Lista de Enfermedades Raras Orphanet

January 2019
List of rare diseases and synonyms:

Listed in alphabetical order
www.orpha.net www.orphadata.org
METHODOLOGY Data collection
Orphanet provides a comprehensive inventory of rare
As new scientific knowledge arises, the Orphanet rare
diseases in Europe, published biannually as a list.
diseases inventory is updated through the regular
Rare diseases registered in Orphanet are defined
addition/update of diseases via two non-exclusive
according to two scopes:
sources: documented sources and/or expert advice.
 Every entity is defined by its clinical The scientific knowledge is monitored through:
homogeneity, regardless of its etiology or the
number of causing genes identified;
 A bi-monthly analysis of a defined set of
international peer-reviewed scientific journals
 The rarity is defined according to the European covering the diversity of medical specialities
legislation defining a prevalence threshold of represented in Orphanet;
not more than 5 affected persons per 10’000
(Regulation (EC) N°141/2000 of the European
Parliament and of the Council of 16 December  A monthly Medline search algorithm:
1999 on orphan medicinal products, (nosology[Title] OR classification[Title] OR
http://ec.europa.eu/health/files/eudralex/vol- nomenclature[Title] OR terminology[Title])
1/reg_2000_141/reg_2000_141_en.pdf). AND (rare disease* OR syndrome* OR
disorder*);
Registered rare diseases have been described in the
international scientific literature (peer-reviewed articles)  Specific Medline queries according to requests
with at least two cases confirming that the clinical signs from experts, users of the database or needs
are not associated fortuitously. However, some diseases arising from services newly registered in
are registered although only one case has been reported Orphanet (e.g. diagnostic test, expert centre,
in order to reproduce the comprehensiveness of a patient organisation).
specific classification (notably within the classification
of inborn errors of metabolism). Update of the inventory of rare diseases is assessed
monthly by a medical and scientific committee within
Rare diseases are registered with a preferred name and Orphanet and further validated by consulted experts.
as many synonyms as necessary. A unique identifier,
the ORPHA number, is randomly attributed by the The Orphanet rare disease nomenclature is produced in
database to each disease. This number is never re-used, English and is translated into other languages. A
so it is stable in time. medical validation of the translations is carried out.
ORPHA number of rare diseases registered in the past Data presentation

may be absent from the current inventory. This is due
to: Preferred names and synonyms of diseases are
listed by alphabetical order with their ORPHA
 Obsolescence of entries (e.g. duplicated entities, number.
diseases that are not rare anymore);
Deprecated entities are listed with the ORPHA number
 Deprecation of entities when an entity no longer to be used preceded by the sign “→ “. A table in annex
exists per se but has been recognised as being lists the name of the rare disease and its ORPHA
another entity. In this case, information number to be used instead of the deprecated entries.
regarding the deprecated entity is moved and
the users are redirected to the target entry. Obsolete entries are not listed here. In the case of
duplicates, the nomenclature of the obsolete entry has
been added to the rare disease listed here.
Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - January 2019
http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf
ORPHA ORPHA
Rare diseases listed in number
Disease name
number
Disease name
alphabetical order 505216 3-methylglutaconic aciduria type 9

3-methylglutaconic aciduria with
99763 18-oxidase deficiency
881 45,X syndrome
ORPHA
Disease name 352328 deafness-encephalopathy-Leigh-like 881 45,X/46,XX syndrome
number
syndrome 1772 45,X/46,XY MGD
289157 1-alpha-hydroxylase deficiency
3-methylglutaconic aciduria- 45,X/46,XY mixed gonadal
2,4-dienoyl-CoA reductase 445038 cataract-neurologic involvement- 1772
431361 dysgenesis
deficiency neutropenia syndrome
976
1772 45,X0/46,XY MGD
2,8-dihydroxyadenine urolithiasis 3-methylglutaconic aciduria-
79154
45,X0/46,XY mixed gonadal
2-aminoadipic 2-oxoadipic aciduria 505216 epilepsy-spasticity-severe 1772
dysgenesis
391417 2-methyl-3-hydroxybutyric aciduria intellectual disability syndrome 243 46,XX complete gonadal dysgenesis
2-methyl-3-hydroxybutyric aciduria, 3-methylglutaconyl-CoA hydratase
391428 67046 46,XX disorder of sex development-
classic type deficiency 2973
anorectal anomalies syndrome
2-methyl-3-hydroxybutyric aciduria, 134 3-oxothiolase deficiency
391428 46,XX disorder of sex development-
infantile type 3-phosphoglycerate dehydrogenase 2975
79351 skeletal anomalies syndrome
2-methyl-3-hydroxybutyric aciduria, deficiency, infantile/juvenile form
391457 243 46,XX gonadal dysgenesis
neonatal type 3-phosphoglycerate dehydrogenase
2671 243 46,XX ovarian dysgenesis
2-methyl-3-hydroxybutyryl-CoA deficiency, neonatal form
391417 46,XX ovarian dysgenesis-short
dehydrogenase deficiency 3-phosphoserine phosphatase 444048
79350 stature syndrome
2-methyl-3-hydroxybutyryl-CoA deficiency
391428 dehydrogenase deficiency, classic
2138 46,XX ovotesticular DSD
869 3A syndrome
type 46,XX ovotesticular disorder of sex
7 3C syndrome 2138
2-methyl-3-hydroxybutyryl-CoA development
2616 3M syndrome
391428 dehydrogenase deficiency, infantile 243 46,XX pure gonadal dysgenesis
293843 3MC syndrome
type 393 46,XX testicular DSD
→293843 3MC1 syndrome
2-methyl-3-hydroxybutyryl-CoA 46,XX testicular disorder of sex
→293843 3MC2 syndrome 393
391457 dehydrogenase deficiency, neonatal development
→293843 3MC3 syndrome 199310 46,XX/46,XY chimerism
type
67046 3MG-CoA hydratase deficiency 242 46,XY CGD
2-methylacyl-CoA racemase
79095 2118 4-HPPD deficiency
deficiency 46,XY DSD due to 5-alpha-reductase
4-alpha-hydroxyphenylpyruvate 753
79157 2-methylbutyric aciduria 2118 2 deficiency
2-methylbutyryl-CoA hydroxylase deficiency 46,XY DSD due to LH resistance or
79157 22 4-hydroxybutyric aciduria 755
dehydrogenase deficiency LHB deficiency
255182 2-oxoglutarate complex deficiency 4-hydroxyphenylpyruvic acid 325448 46,XY DSD due to LHB deficiency
2118
869 2A syndrome dioxygenase deficiency 46,XY DSD due to complete LH
869 4A syndrome 96265
2616 3-M syndrome receptor inactivation
88637 4H syndrome 46,XY DSD due to complete LH
3-beta-hydroxy-delta-5-C27-steroid 96265
79301 5-amino-4-imidazole carboxamide
oxidoreductase deficiency 250977 resistance
20 3-hydroxy-3-methylglutaric aciduria ribosiduria 46,XY DSD due to complete
217064 5-fluorouracil intoxication 96265 luteinizing hormone receptor
3-hydroxy-3-methylglutaryl-CoA
20 217064 5-fluorouracil poisoning inactivation
lyase deficiency
3-hydroxy-3-methylglutaryl-CoA 33572 5-oxoprolinase deficiency 46,XY DSD due to complete
35701 96265
synthase deficiency 6-phosphogluconate dehydrogenase luteinizing hormone resistance
99135
939 3-hydroxyisobutyric aciduria deficiency 46,XY DSD due to luteinizing
6-pyruvoyl-tetrahydropterin 755 hormone resistance or luteinizing
134 3-ketothiolase deficiency 13
synthase deficiency hormone beta subunit deficiency
3-mercaptopyruvate
1035 7-dehydrocholesterol reductase 46,XY DSD due to luteinizing
sulfurtransferase deficiency 818 325448
deficiency hormone subunit beta deficiency
3-methylcrotonyl-CoA carboxylase
6 11-beta-hydroxysteroid 46,XY DSD due to partial LH
deficiency 168588 96266
6 dehydrogenase deficiency type 1 receptor inactivation
3-methylcrotonylglycinuria
67046 11-beta-hydroxysteroid 46,XY DSD due to partial LH
3-methylglutaconic aciduria type 1 320 96266
dehydrogenase deficiency type 2 resistance
111 3-methylglutaconic aciduria type 2
17-beta-hydroxysteroid 46,XY DSD due to partial luteinizing
67047 3-methylglutaconic aciduria type 3 752 96266
dehydrogenase 3 deficiency hormone resistance
752 17-ketoreductase deficiency 251510 46,XY PGD
66634 3-methylglutaconic aciduria type 5 242
752 17-ketosteroidreductase deficiency 46,XY complete gonadal dysgenesis
99763 18-hydroxylase deficiency
→ This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used.
ORPHA ORPHA ORPHA
Disease name Disease name Disease name
number number number
46,XY disorder of sex developement 9 48,XXXX syndrome 251056 6q25 microdeletion syndrome
96266 due to partial LH receptor 96263 48,XXXY syndrome 314034 7p22.1 microduplication syndrome
inactivation 10 48,XXYY syndrome 96121 7q11.23 microduplication syndrome
46,XY disorder of sex developement 99329 48,XYYY syndrome 251061 7q31 microdeletion syndrome
96266
due to partial LH resistance 11 49,XXXXX syndrome 459074 7q36.3 microduplication syndrome
46,XY disorder of sex developement 96264 49,XXXXY syndrome 8p inverted duplication/deletion
96266 due to partial luteinizing hormone 96092
261534 49,XXXYY syndrome syndrome
resistance 168953 8p11 myeloproliferative syndrome
99330 49,XYYYY syndrome
46,XY disorder of sex development 251066 8p11.2 deletion syndrome
293948 1p21.3 microdeletion syndrome
752 due to 17-beta-hydroxysteroid
401986 1p31p32 microdeletion syndrome 251076 8p23.1 duplication syndrome
dehydrogenase 3 deficiency
456298 1p35.2 microdeletion syndrome 251071 8p23.1 microdeletion syndrome
46,XY disorder of sex development
1606 1p36 deletion syndrome 228399 8q12 microduplication syndrome
753 due to 5-alpha-reductase 2
deficiency 250989 1q21.1 microdeletion syndrome 2496 8q13 microdeletion syndrome
46,XY disorder of sex development 250994 1q21.1 microduplication syndrome 284160 8q21.11 microdeletion syndrome
755 due to LH resistance or LHB 250999 1q41q42 microdeletion syndrome 178303 8q22.1 microdeletion syndrome
deficiency 238769 1q44 microdeletion syndrome 508488 8q24.3 deletion syndrome
46,XY disorder of sex development 363680 2p13.2 microdeletion syndrome 261112 9p deletion syndrome
325448
due to LHB deficiency 261349 2p15p16.1 microdeletion syndrome 261112 9p- syndrome
46,XY disorder of sex development 163693 2p21 deletion syndrome 324313 9p13 microdeletion syndrome
96265 due to complete LH receptor 163693 2p21 microdeletion syndrome 96147 9q subtelomeric deletion syndrome
inactivation 2p21 microdeletion syndrome 96147 9qSTDS
46,XY disorder of sex development 369881
96265 without cystinuria 352665 9q21 microdeletion syndrome
due to complete LH resistance 228402 2q23.1 microdeletion syndrome 9q31.1q31.3 microdeletion
46,XY disorder of sex development 401923
313947 2q23.1 microduplication syndrome syndrome
96265 due to complete luteinizing hormone 9q33.3q34.11 microdeletion
1617 2q24 microdeletion syndrome 495818
receptor inactivation syndrome
251014 2q31.1 microdeletion syndrome
46,XY disorder of sex development 284169 10p12p11 microdeletion syndrome
251019 2q32q33 microdeletion syndrome
96265 due to complete luteinizing hormone 10q22.3q23.3 microdeletion
resistance
251028 2q33.1 microdeletion syndrome 276413
1001 2q37 microdeletion syndrome syndrome
46,XY disorder of sex development 10q22.3q23.3 microduplication
90796 due to isolated 17,20-lyase 1620 3p- syndrome 276422
435638 3p25.3 microdeletion syndrome syndrome
deficiency
1307 10q24 microduplication syndrome
46,XY disorder of sex development 65286 3q subtelomere deletion syndrome
65286 3qter deletion
52022 11p11.2 deletion
due to luteinizing hormone
755 300305 11p15.4 microduplication syndrome
resistance or luteinizing hormone 1621 3q13 microdeletion syndrome
beta subunit deficiency 96095 3q26 microduplication syndrome 11q22.2q22.3 microdeletion
444002
46,XY disorder of sex development syndrome
325448 due to luteinizing hormone subunit 313884 12p12.1 microdeletion syndrome
beta deficiency 280325 12p13.33 microdeletion syndrome
65286 3q29 microdeletion syndrome
46,XY disorder of sex development 94063 12q14 microdeletion syndrome
251038 3q29 microduplication syndrome
443087 due to testicular 17,20-desmolase 12q15q21.1 microdeletion
280 4p- syndrome 289513
deficiency syndrome
96072 4p16.3 microduplication syndrome
46,XY disorder of sex development- 412035 13q12.3 microdeletion syndrome
238750 4q21 microdeletion syndrome
168558 adrenal insufficiency due to 1590 13q32 deletion
CYP11A1 deficiency
502437 4q25 proximal deletion syndrome
329802 5p13 microduplication syndrome
46,XY gonadal dysgenesis-motor 261229 14q11.2 microduplication syndrome
168563 86841 5q- syndrome
and sensory neuropathy syndrome 261144 14q12 microdeletion syndrome
325345 46,XY ovotesticular DSD 228384 5q14.3 microdeletion syndrome
→3157 14q22 microdeletion syndrome
46,XY ovotesticular disorder of sex 436003 5q23 microdeletion syndrome
325345 264200 14q22-q23 microdeletion syndrome
development 314655 5q31.3 microdeletion syndrome
251510 46,XY partial gonadal dysgenesis 228415 5q35 microduplication syndrome
14q24.1q24.3 microdeletion
251510 46,XY partial testicular dysgenesis 96125 6p subtelomeric deletion syndrome 401935
syndrome
242 46,XY pure gonadal dysgenesis 251046 6p22 microdeletion syndrome 488280 14q32 duplication syndrome
3375 47,XXX syndrome 96125 6p25 microdeletion syndrome 314585 15q overgrowth syndrome
8 47,XYY syndrome 75857 6q terminal deletion syndrome
171829 6q16 deletion syndrome
ORPHA ORPHA ORPHA
15q11.2 BP1-BP2 microdeletion 574 21q- syndrome 97345 ABri amyloidosis
261183
syndrome 21q22.11q22.12 microdeletion 921 Abruzzo-Erickson syndrome
261323
261183 15q11.2 microdeletion syndrome syndrome 69739 ABSD
238446 15q11q13 duplication syndrome 21q22.13q22.2 microdeletion Absence deformity of leg-cataract
268261 2310
15q11q13 microduplication syndrome syndrome
238446
syndrome 567 22q11DS 99112 Absence of brachiocephalic vein
199318 15q13.3 microdeletion syndrome 567 22q11.2 deletion syndrome Absence of dermatoglyphics-
1658
261190 15q14 microdeletion syndrome 1727 22q11.2 microduplication syndrome congenital milia syndrome
94065 15q24 microdeletion syndrome 48652 22q13 deletion Absence of fingerprints-congenital
1658
1596 15q26 deletion syndrome 85445 AA amyloidosis milia syndrome
363992 15q26.3 microdeletion syndrome 869 AAA syndrome 99112 Absence of innominate vein
16p11.2p12.2 microdeletion 35708 AADC deficiency Absence of pulmonary valve-Fallot
261211
syndrome 100055 AAE 2 101206 tetralogy-absence of ductus
16p11.2p12.2 microduplication 100055 AAE II arteriosus syndrome
261204
syndrome 1414 Aagenaes syndrome Absence of pulmonary valve-
485405 16p12.1p12.3 triplication syndrome 99048 ventricular septal defect-persistent
284460 AAOR
261236 16p13.11 microdeletion syndrome ductus arteriosus syndrome
93560 AApoAI amyloidosis
16p13.11 microduplication 980 Absence of the pulmonary artery
261243 238269 AApoAII amyloidosis
syndrome 99114 Absence of the superior caval vein
439232 AApoAIV amyloidosis
500055 16p13.2 microdeletion syndrome 99114 Absence of the superior vena cava
915 Aarskog syndrome
96078 16p13.3 microduplication syndrome 99114 Absence of the SVC
1974 Aarskog-like syndrome
352629 16q24.1 microdeletion syndrome Absent eyebrows and eyelashes-
3163 Aarskog-Ose-Pande syndrome 2985
261250 16q24.3 microdeletion syndrome intellectual disability syndrome
915 Aarskog-Scott syndrome
819 17p11.2 microdeletion syndrome Absent patellae-scrotal hypoplasia-
124 Aase syndrome 85201 renal anomalies-facial dysmorphism-
1713 17p11.2 microduplication syndrome 916 Aase-Smith I syndrome intellectual disability syndrome
17p11.2p12 microduplication 124 Aase-Smith II syndrome
477817 Absent radius-anogenital anomalies
syndrome 916 Aase-Smith syndrome 3016
syndrome
217385 17p13.3 duplication syndrome 69663 ABCB4-related cholelithiasis Absent thumb-short stature-
217385 17p13.3 microduplication syndrome →897 ABCD syndrome
2951
immunodeficiency syndrome
97685 17q11 microdeletion syndrome Abdominal muscle deficiency 988 Absent tibia-polydactyly syndrome
139474 17q11.2 microduplication syndrome 2970
syndrome Absent tibia-polydactyly-arachnoid
261265 17q12 microdeletion syndrome 3328
529799 ABE cyst syndrome
261272 17q12 microduplication syndrome 800 Aberfeld syndrome 225147 ABSN
363958 17q21.31 microdeletion syndrome 85446 ABeta2Mwt amyloidosis 99901 ACAD9 deficiency
17q21.31 microduplication 324723 ABeta amyloidosis, Arctic type 42 ACADM deficiency
217340
syndrome 100006 ABeta amyloidosis, Dutch type 26792 ACADS deficiency
17q23.1q23.2 microdeletion 324718 ABeta amyloidosis, Flemish type
261279 945 Acalvaria
syndrome
324708 ABeta amyloidosis, Iowa type 67043 Acanthamoeba keratitis
324713 ABeta amyloidosis, Italian type 79468 Acanthokeratolytic verrucous nevus
1598 18p- syndrome
324703 ABeta amyloidosis, Piedmont type 300504 Acanthoma of the nail matrix
1600 18q deletion syndrome
324718 ABetaA21G amyloidosis Acanthosis nigricans-insulin
1600 18q- syndrome
324718 ABetaA21G-related amyloidosis 90301 resistance-muscle cramps-acral
324708 ABetaD23N amyloidosis enlargement syndrome
324723 ABetaE22G amyloidosis 926 Acatalasemia
447980 19p13.3 microduplication syndrome
324713 ABetaE22K amyloidosis 2508 ACC-abnormal genitalia syndrome
217346 19q13.11 microdeletion syndrome Accelerated skeletal maturation-
100006 ABetaE22Q amyloidosis
20p subtelomeric deletion 561 facial dysmorphism-failure to thrive
313781 324703 ABetaL34V amyloidosis
syndrome syndrome
324703 ABetaL34V-related amyloidosis
261295 20p12.3 microdeletion syndrome 180182 Accessory breasts
14 Abetalipoproteinemia
313781 20p13 microdeletion syndrome 99061 Accessory mitral valve tissue
920 Ablepharon macrostomia syndrome
444051 20q11.2 microdeletion syndrome 141096 Accessory nostril
99089 Abnormal number of coronary ostia
363659 20q11.2 microduplication syndrome 674 Accessory pancreas
Abnormal origin of right or left
261311 20q13.33 microdeletion syndrome 99050 95462
pulmonary artery from the aorta Accessory tricuspid valve tissue
574 21q deletion syndrome 1005 ACD-intellectual disability syndrome
1164 ABPA
ORPHA ORPHA ORPHA
210122 ACDMPV Acquired adult-onset Acquired neurogenic diabetes
306431 95626
ACE inhibitor-related acquired immunodeficiency insipidus
100057
angioedema Acquired aneurysmal subarachnoid 84142 Acquired neuromyotonia
90065
100057 ACEI-related acquired angioedema hemorrhage 79087 Acquired partial lipodystrophy
529970 acephalic spermatozoa syndrome 100056 Acquired angioedema type 1 314697 Acquired porencephaly
ACER3-related early childhood- 100055 Acquired angioedema type 2 729 Acquired primary erythrocytosis
502444
onset progressive leukodystrophy Acquired angioedema with C1Inh 26348 Acquired prothrombin deficiency
528663
48818 Aceruloplasminemia deficiency Acquired pseudoxanthoma
228247
464458 Acetaminophen poisoning Acquired angioedema with normal elasticum
100057
Acetazolamide-responsive C1 inhibitor 49566 Acquired purpura fulminans
99736
congenital myotonia Acquired angioedema with normal 228247 Acquired PXE
100057
99736 Acetazolamide-responsive myotonia C1INH 206575 Acquired rippling muscle disease
2008 ACFS Acquired angioneurotic edema type 485275 Acquired schizencephaly
100056
930 Achalasia cardia 1 Acquired thrombotic
Acquired angioneurotic edema type 93585
Achalasia-addisonianism-alacrima 100055 thrombocytopenic purpura
869 2
syndrome 93585 Acquired TTP
→869 Achalasia-alacrimia syndrome Acquired angioneurotic edema with 99147 Acquired von Willebrand disease
528663
929 Achalasia-microcephaly syndrome C1 inhibitor deficiency
99147 Acquired von Willebrand syndrome
294983 Acheiria Acquired angioneurotic edema with
528663 263534 Acral deciduous skin
C1Inh deficiency
931 Acheiropodia Acral dysostosis with facial and
95626 Acquired CDI 97360
931 Acheiropody genital abnormalities
95626 Acquired central diabetes insipidus
49382 ACHM Acral dystrophic epidermolysis
454700 Acquired Creutzfeldt-Jakob disease 158673
932 Achondrogenesis bullosa
228285 Acquired cutis laxa 263534 Acral peeling skin syndrome
93299 Achondrogenesis type 1A
Acquired cystic disease-associated 90396 Acral persistent papular mucinosis
93298 Achondrogenesis type 1B 404514
renal cell carcinoma
93296 Achondrogenesis type 2 263534 Acral PSS
46487 Acquired epidermolysis bullosa
Achondrogenesis, Houston-Harris 281127 Acral self-healing collodion baby
93299 98818 Acquired epileptic aphasia
type 281127 Acral SHCB
Acquired Fanconi syndrome
Achondrogenesis, Langer-Saldino Acro-dermato-ungual-lacrimal-tooth
93296 91136 secondary to monoclonal 978
type syndrome
gammopathy
Achondrogenesis, Parenti-Fraccaro 958 Acro-renal-mandibular syndrome
93298 79086 Acquired generalized lipodystrophy
type 959 Acro-renal-ocular syndrome
Acquired Gronblad-Strandberg-
15 Achondroplasia 228247 36 Acrocallosal syndrome
Touraine syndrome
935 Achondroplasia-SCID syndrome 63446 Acrocapitofemoral dysplasia
231401 Acquired HbH disease
Achondroplasia-severe combined 2008 Acrocardiofacial syndrome
935 231401 Acquired hemoglobin H disease
immunodeficiency syndrome 221054 Acrocephalopolydactylous dysplasia
Acquired hemophagocytic
Achondroplasia-Swiss type 221054 Acrocephalopolydactyly
935 158057 lymphohistiocytosis associated with
agammaglobulinemia syndrome 65759 Acrocephalopolysyndactyly type 2
malignant disease
49382 Achromatopsia 65798
73274 Acquired hemophilia Acrocephalopolysyndactyly type 4
355 Acid beta-glucosidase deficiency 87 Acrocephalosyndactyly type 1
2221 Acquired hypertrichosis lanuginosa
333 Acid ceramidase deficiency 794 Acrocephalosyndactyly type 3
26348 Acquired hypoprothrombinemia
424046 Acinar cell carcinoma of pancreas 710 Acrocephalosyndactyly type 5
454 Acquired ichthyosis
40366 Acitretin/etretinate embryopathy 63440 Acrocephaly
Acquired idiopathic sideroblastic
79099 Ackerman dermatitis syndrome 75564
anemia 949 Acrocraniofacial dysostosis
Ackerman fused molar roots 37559 Acquired kinky hair syndrome 955 Acrodentoosteodysplasia
2561
syndrome Acrodermatitis continua of
79086 Acquired lipoatrophic diabetes
79099 Ackerman syndrome 163931
464453 Acquired methemoglobinemia Hallopeau
51890 ACNES 37 Acrodermatitis enteropathica
Acquired monoclonal Ig light chain-
43115 Aconitase deficiency 91136
associated Fanconi syndrome Acrodermatitis enteropathica, zinc
252175 Acoustic neurilemoma 37
Acquired monoclonal deficiency type
252175 Acoustic neurinoma 91136 immunoglobulin light chain- 950 Acrodysostosis
252175 Acoustic neuroma associated Fanconi syndrome Acrodysostosis with multiple
280651
65759 ACPS2 589 Acquired myasthenia hormone resistance
65798 ACPS4 950 Acrodysplasia
ORPHA ORPHA ORPHA
2956 Acrodysplasia scoliosis 36 ACS Acute infantile liver failure-
1786 Acrofacial dysostosis, Catania type 87 ACS1 466794 cerebellar ataxia-peripheral sensory
Acrofacial dysostosis, Genee- 794 ACS3 motor neuropathy syndrome
246
Wiedmann type 710 ACS5 Acute infantile liver failure-
Acrofacial dysostosis, Kennedy- 98904 Actin myopathy 370088 multisystemic involvement
64542 syndrome
Teebi type 254395 Actinic lichen planus
Acrofacial dysostosis, Palagonia 254395 Actinic LP Acute inflammatory demyelinating
1787 98916
type polyradiculoneuropathy
330061 Actinic prurigo
Acrofacial dysostosis, Rodríguez Acute inflammatory
1788 330064 Actinic reticuloid 98916
type polyneuropathy
457095 Actinomycosis
952 Acrofacial dysostosis, Weyers type 79276 Acute intermittent porphyria
Action myoclonus-renal failure
1784 Acrofrontofacionasal dysostosis 163696 79126 Acute interstitial pneumonia
syndrome
Acrofrontofacionasal dysostosis 79126 Acute interstitial pneumonitis
2211 397596 Activated PI3K-delta syndrome
type 2 73423 Acute intoxication by Blighia sapida
Activation-induced cytidine
Acrofrontofacionasal syndrome 101089 529799 Acute kernicterus
2211 deaminase deficiency
type 2 73423 Acute ackee fruit intoxication
90062 Acute liver failure
2500 Acrogeria 178320 Acute lung injury
95409 Acute adrenal failure
2500 Acrogeria, Gottron type 95409 Acute adrenal insufficiency
488239 Acute macular neuroretinopathy
38 Acrokeratoelastoidosis of Costa 518 Acute megakaryoblastic leukemia
95409 Acute adrenocortical insufficiency
166113 Acrokeratosis of Bazex Acute megakaryoblastic leukemia in
Acute and disseminated Langerhans 99887
166113 Acrokeratosis paraneoplastica 99870 Down syndrome
cell histiocytosis
Acrokeratosis paraneoplastica of 284460 Acute annular outer retinopathy Acute megakaryoblastic leukemia
166113 329469
Bazex without Down syndrome
86849 Acute basophilic leukemia
79151 Acrokeratosis verruciformis of Hopf 518 Acute megakaryocytic leukemia
225147 Acute bilateral striatal necrosis
Acromegaloid facial appearance 514 Acute monoblastic leukemia
965 529799 Acute bilirubin encephalopathy
syndrome 514 Acute monocytic leukemia
98837 Acute biphenotypic leukemia
963 Acromegaly Acute motor and sensory axonal
2901 Acute brachial plexus neuritis 98917
Acromegaly-cutis verticis gyrata- neuropathy
→2796 83597 Acute disseminated encephalitis
corneal leukoma syndrome 98918 Acute motor axonal neuropathy
Acute disseminated
39 Acromelanosis 83597 98917 Acute motor-sensory axonal GBS
encephalomyelitis
1827 Acromelic frontonasal dysostosis Acute motor-sensory axonal
Acute encephalitis with refractory 98917
1827 Acromelic frontonasal dysplasia 163703 Guillain-Barré syndrome
repetitive partial seizures
968 Acromesomelic dwarfism Acute multiple sclerosis, Marburg
Acute encephalopathy with biphasic 228157
Acromesomelic dysplasia, Grebe 363549 type
2098 seizures and late reduced diffusion
type Acute multiple sclerosis, Marburg
279888 Acute endophthalmitis 228157
Acromesomelic dysplasia, Hunter- variant
968 318 Acute erythroid leukemia
Thompson type 520 Acute myeloblastic leukemia 3
243367 Acute fatty liver of pregnancy
Acromesomelic dysplasia, 98833 Acute myeloblastic leukemia M1
40 Acute febrile neutrophilic
Maroteaux type 3243 98834 Acute myeloblastic leukemia M2
dermatosis
2500 Acrometageria Acute myeloblastic leukemia with
Acute generalized exanthematous 98834
969 Acromicric dysplasia 293173 maturation
pustulosis
955 Acroosteolysis dominant type Acute myeloblastic leukemia
99920 Acute graft versus host disease 98833
Acroosteolysis with osteoporosis without maturation
955 90062 Acute hepatic failure
and changes in skull and mandible Acute myelodysplasia with
Acute idiopathic demyelinating 86843
Acroosteolysis-keloid-like lesions- 98916 myelofibrosis
363665 polyneuropathy
premature aging syndrome 86843 Acute myelofibrosis
Acute infantile encephalopathy
2980 Acrootoocular syndrome Acute myeloid leukaemia with
363549 predominantly affecting the frontal 86845
85203 Acropectoral syndrome myelodysplasia-related features
lobes
→2911 Acropectororenal dysplasia Acute myeloid leukemia and
Acute infantile liver failure due to
957 Acropectorovertebral dysplasia 102379 myelodysplastic syndromes related
217371 synthesis defect of mitochondrial
41 Acropigmentation of Dohi to alkylating agent
DNA-encoded proteins
Acrorenal defect-ectodermal Acute myeloid leukemia and
1133 Acute infantile liver failure due to
dysplasia-diabetes syndrome
164726 myelodysplastic syndromes related
217371 synthesis defect of mtDNA-encoded
to radiation
971 Acrorenal syndrome proteins
85203 ACRP syndrome
ORPHA ORPHA ORPHA
Acute myeloid leukemia and 98918 Acute pure motor GBS 85138 Addison disease
102381 myelodysplastic syndromes related Acute pure motor Guillain-Barré 95409 Addisonian crisis
98918
to topoisomerase type 2 inhibitor syndrome 2953 Adducted thumb-clubfoot syndrome
318 Acute myeloid leukemia M6 231450 Acute pure sensory GBS Adducted thumbs-arthrogryposis
2952
518 Acute myeloid leukemia M7 Acute pure sensory Guillain-Barré syndrome, Christian type
231450
Acute myeloid leukemia with 11q23 syndrome 101046 ADEAF
98831
abnormalities 231450 Acute pure sensory neuropathy 83597 ADEM
Acute myeloid leukemia with 454831 Acute radiation sickness Adenine phosphoribosyltransferase
98829 abnormal bone marrow eosinophils 976
454831 Acute radiation syndrome deficiency
inv(16)(p13q22) or t(16;16)(p13;q22) Acute respiratory coronavirus 213504 Adenocarcinoma of ovary
140896
Acute myeloid leukemia with CEBPA infection 424016 Adenocarcinoma of the anal canal
319480
somatic mutations 3099 Acute rheumatic fever 213772 Adenocarcinoma of the cervix uteri
Acute myeloid leukemia with Acute sensorineural hearing loss by 99976 Adenocarcinoma of the esophagus
402020
inv3(q21;q26.2) or t(3;3)(q21;q26.2) acute acoustic trauma or sudden
90059 Adenocarcinoma of the gallbladder
Acute myeloid leukemia with deafness or surgery induced acoustic 424991
98832 and EBT
minimal differentiation trauma Adenocarcinoma of the gallbladder
Acute myeloid leukemia with 231466 Acute sensory ataxic GBS 424991
86845 and extrahepatic biliary tract
multilineage dysplasia Acute sensory ataxic Guillain-Barré
231466 424943 Adenocarcinoma of the liver and IBT
Acute myeloid leukemia with NPM1 syndrome
402026 Adenocarcinoma of the liver and
somatic mutations 231466 Acute sensory ataxic neuropathy 424943
intrahepatic biliary tract
Acute myeloid leukemia with 139417 Acute transverse myelitis
402014 363478 Adenocarcinoma of the paratestis
t(6;9)(p23;q34) Acute tricyclic antidepressant
43117 398053 Adenocarcinoma of the penis
Acute myeloid leukemia with poisoning
370026 104075 Adenocarcinoma of the small bowel
t(8;16)(p11;p13) translocation Acute tubulointerstitial nephritis
Acute myeloid leukemia with 91500 Adenocarcinoma of the small
and uveitis syndrome 104075
102724 instestine
t(8;21)(q22;q22) translocation 98835 Acute undifferentiated leukemia
Acute myeloid leukemia with
494454 Adenocarcinoma of the vulva
402017 Acute zonal occult outer 95512 Adenohypophysitis
t(9;11)(p22;q23) 284454
retinopathy Adenoid basal carcinoma of the
Acute myeloid leukemia with 137754 ACY1D 213828
520 t(15;17)(q22;q12);(PML/RARalpha) cervix uteri
141 ACY2 deficiency Adenoid cystic carcinoma of the
and variants 213823
Acyl-CoA dehydrogenase 9 cervix uteri
Acute myeloid leukemia, minimal 99901
98835 deficiency Adenoid cystic carcinoma of the
differentiation, FAB M0 213741
100008 ACys amyloidosis corpus uteri
517 Acute myelomonocytic leukemia
99736 ACZ-responsive congenital myotonia 93292 Adenoma of pancreas
86843 Acute myelosclerosis
99736 ACZ-responsive myotonia 26790 Adenomucinosis
Acute necrotizing encephalopathy
263524 93608 AD dRTA 213792 Adenosarcoma of the cervix uteri
of childhood
247546 Acute neonatal citrullinemia type 1
428 AD hypocalcemia 213600 Adenosarcoma of the corpus uteri
314889 AD pRTA Adenosine monophosphate
247546 Acute neonatal citrullinemia type I 45
169189 AD-CNM deaminase deficiency
Acute neuronopathic Gaucher
77260 1810 AD-HED 28
disease Adenosylcobalamin deficiency
2314 AD-HIES Adenovirus infection in
Acute non-herpetic encephalitis 91127
163703 with severe refractory status 447753 AD-SPG9A immunocompromised patients
epilepticus 447757 AD-SPG9B 46 Adenylosuccinase deficiency
35889 Acute opioid poisoning 277 ADA deficiency 46 Adenylosuccinate lyase deficiency
231457 Acute panautonomic GBS 973 Adactyly of hand, unilateral Adenylosuccinate synthetase-like 1-
482601
Acute panautonomic Guillain-Barré 216796 Adair-Dighton syndrome related distal myopathy
231457
syndrome 55881 Adamantinoma 137817 Adhesive arachnoiditis
231457 Acute panautonomic neuropathy 55881 Adamantinoma of long bones 89937 ADHR
231457 Acute pandysautonomia 974 Adams-Oliver syndrome 454718 Adie syndrome
Acute panmyelosis with 97346 ADan amyloidosis 36397 Adiposalgia
86843
myelofibrosis 88619 ADANE 36397 Adipose tissue rheumatism
90064 Acute peripheral arterial occlusion 314404 ADCA-DN syndrome 36397 Adiposis dolorosa
Acute poisoning by drugs with 90348 ADCL 289290 ADK hypermethioninemia
43119
membrane-stabilizing effect 86814 ADCME 99027 ADLD
520 Acute promyelocytic leukemia 101046 ADLTE
ORPHA ORPHA ORPHA
98784 ADNFLE 206583 Adult polyglucosan body disease Adult-onset multiple mtDNA
329211 ADNIV 902 Adult progeria 329314 deletion syndrome due to DGUOK
404448 ADNP syndrome Adult pulmonary Langerhans cell deficiency
99874
ADNP-related syndromic intellectual histiocytosis 391490 Adult-onset myasthenia gravis
404448
disability-autism spectrum disorder 98872 Adult pure red cell aplasia 171442 Adult-onset nemaline myopathy
1544 Adolescent benign focal crisis 247676 Adult Rathburn disease Adult-onset non-insulinoma
306588 ADOS 773 Adult Refsum disease 276608 persistent hyperinsulinemic
2924 ADPCLD 978 ADULT syndrome hypoglycemia
101046 ADPEAF 86875 Adult T-cell leukemia/lymphoma 206572 Adult-onset overlap myositis
254892 35689 Adult-onset PLS
adPEO 391490 Adult-onset acquired myasthenia
730 ADPKD Adult-onset Alpha-N- 35689 Adult-onset primary lateral sclerosis
79280 829 Adult-onset Still disease
95409 Adrenal crisis acetylgalactosaminidase deficiency
Adrenal insufficiency-achalasia- Adult-onset autoimmune Adult-onset vitelliform macular
869 391490 99000
alacrima syndrome myasthenia gravis dystrophy
1501 Adrenocortical carcinoma Adult-onset autosomal dominant 3086 ADVIRC
99027
demyelinating leukodystrophy 682 Adynamia episodica hereditaria
Adrenocortical carcinoma with pure
231625 1071 AEC syndrome
aldosterone hypersecretion Adult-onset autosomal dominant
99027
95409 Adrenocortical crisis leukodystrophy 281139 AEI
Adrenocorticotropic hormone Adult-onset autosomal recessive 163703 AERRPS
99889 284289
secretion syndrome cerebellar ataxia 363549 AESD
139399 Adrenomyeloneuropathy Adult-onset autosomal recessive 178345 AEXS
255132
977 Adrenomyodystrophy sideroblastic anemia 37 AEZ
228169 ADSD Adult-onset cervical dystonia, 220460 AFAP
420492
46 ADSL deficiency DYT23 type AFG3L2-related spastic ataxia-
482601 ADSSL1-related distal myopathy Adult-onset chronic progressive 313772 myoclonic epilepsy-neuropathy
329336 external ophthalmoplegia with syndrome
34149 ADTKD
mitochondrial myopathy 93562 AFib amyloidosis
88949 ADTKD-MUC1
247585 Adult-onset citrin deficiency 243367 AFLP
217330 ADTKD-REN
247573 Adult-onset citrullinemia type 1 1827 AFND
88950 ADTKD-UMOD
247585 Adult-onset citrullinemia type 2 398147 AFP
Adult acute respiratory distress
70578 247573 Adult-onset citrullinemia type I 139507
syndrome African iron overload
247585 Adult-onset citrullinemia type II 101334 African tick typhus
70578 Adult ARDS
Adult-onset CPEO with 3385 African trypanosomiasis
93605 Adult Bartter syndrome 329336
mitochondrial myopathy Agammaglobulinemia, non-Bruton
157846 Adult basal ganglia disease 33110
411641 Adult-onset cystinosis type
874 Adult cardiac tumor
Adult-onset distal myopathy due to Agammaglobulinemia-
221 Adult dermatomyositis 329478
VCP mutation 83617 microcephaly-craniosynostosis-
Adult familial nephronophthisis- 199351 Adult-onset dystonia-parkinsonism
2666 severe dermatitis syndrome
spastic quadriparesia syndrome
Adult-onset foveomacular 388 Aganglionic megacolon
309169 Adult GM2 gangliosidosis 0 variant 99000
dystrophy 35704 AGAT deficiency
210159 Adult HCC Adult-onset foveomacular
874 Adult heart tumor
353217 AGC1 deficiency
99000 dystrophy with choroidal 85448 AGel amyloidosis
210159 Adult hepatocellular carcinoma neovascularization
247676 Adult hypophosphatasia Agenesis and aplasia of uterine
Adult-onset foveomacular 180142
99000 body
2688 Adult idiopathic neutropenia vitelliform dystrophy
Agenesis of corpus callosum with
178487 Adult intestinal botulism 79257 Adult-onset GM1 gangliosidosis 50
chorioretinal abnormality
Adult intestinal colonization Adult-onset immunodeficiency with
178487 99114 Agenesis of the superior caval vein
botulism 306431 anti-interferon-gamma
99114 Agenesis of the superior vena cava
178487 Adult intestinal toxemia botulism autoantibodies
99114 Agenesis of the SVC
Adult intestinal toxin-mediated Adult-onset leukoencephalopathy
178487 293173 AGEP
botulism 313808 with axonal spheroids and
206448 Adult Krabbe disease pigmented glia 873 Aggressive fibromatosis
Adult-onset multiple mitochondrial 86873 Aggressive NK-cell leukemia
79262 Adult NCL
329314 DNA deletion syndrome due to 86873 Aggressive NK-cell lymphoma
79262 Adult neuronal ceroid lipofuscinosis
247676 Adult phosphoethanolaminuria DGUOK deficiency 98850 Aggressive systemic mastocytosis
989 Aglossia-adactylia syndrome
ORPHA ORPHA ORPHA
Agnathia-holoprosencephaly-situs →324737 Al-Gazali-Dattani syndrome Aldosterone synthase deficiency
990 99764
inversus syndrome Alacrimia-choreoathetosis-liver unrelated to CYP11B2
404454
824 Agnogenic myeloid metaplasia dysfunction syndrome Aldosterone synthase deficiency
100070 Agramatic variant of PPA 100924 ALAD porphyria 99764 unrelated to the aldosterone
Agramatic variant of primary 52 Alagille syndrome synthase gene
100070
progressive aphasia Alagille syndrome due to 20p12 85332 Aldred syndrome
261600
442582 AH amyloidosis microdeletion 439224 ALECT2 amyloidosis
2131 AHC Alagille syndrome due to a JAG1 158799 Aleukemic mast cell leukemia
261619
AHDC1-related intellectual point mutation 58 Alexander disease
412069 disability-obstructive sleep apnea- Alagille syndrome due to a NOTCH2 363717 Alexander disease type I
261629
mild dysmorphism syndrome point mutation 363722 Alexander disease type II
59 AHDS Alagille syndrome due to 261112 Alfi syndrome
261600
50812 Ahn-Lerman-Sagie syndrome del(20)(p12) 79327 ALG1-CDG
79443 AHO-PHP syndrome Ia Alagille syndrome due to 79326 ALG2-CDG
261600
79445 AHO-PPHP syndrome monosomy 20p12 79321 ALG3-CDG
2134 aHUS 52 Alagille-Watson syndrome 79320 ALG6-CDG
93581 aHUS with anti-factor H antibodies Alagille-Watson syndrome due to a 79325 ALG8-CDG
261619
93578 aHUS with B factor anomaly JAG1 point mutation 79328 ALG9-CDG
93575 aHUS with C3 anomaly Alagille-Watson syndrome due to a 280071 ALG11-CDG
261629
357008 aHUS with DGKE deficiency NOTCH2 point mutation
79324 ALG12-CDG
93579 aHUS with H factor anomaly Alagille-Watson syndrome due to
261600 324422 ALG13-CDG
monosomy 20p12
93580 aHUS with I factor anomaly 99995 Algodystrophy
178333 Åland Islands eye disease
93576 aHUS with MCP/CD46 anomaly 300895 ALK+ ALCL
Alar cartilages hypoplasia-
aHUS with thrombomodulin 2007 300895 ALK+ anaplastic large cell lymphoma
217023 coloboma-telecanthus syndrome
anomaly 364043 ALK+ large B-cell lymphoma
141242 Alar cleft
250977 AICA-ribosiduria 364043 ALK+ LBCL
141242 Alar rim cleft
50 Aicardi syndrome 300903 ALK- ALCL
319671 Alazami syndrome
51 Aicardi-Goutières syndrome 300903 ALK- anaplastic large cell lymphoma
53 Albers-Schönberg osteopetrosis
101089 AID deficiency ALK-negative anaplastic large cell
Albinism-black lock-cell migration 300903
98916 AIDP lymphoma
disorder of the neurocytes of the
90081 AIDS wasting syndrome →897 ALK-positive anaplastic large cell
gut-sensorineural deafness 300895
178333 AIED syndrome lymphoma
363549 AIEF 998 Albinism-deafness syndrome 364043 ALK-positive large B-cell lymphoma
86886 AILT →457059 Albright hereditary osteodystrophy 502444 Alkaline ceramidase 3 deficiency
103919 AIP Albright hereditary osteodystrophy 56 Alkaptonuria
280302 AIP type 1 1001 59
type 3 Allan-Herndon-Dudley syndrome
280315 AIP type 2 Albright hereditary osteodystrophy- 1164 Allergic aspergillosis
1001
75564 AISA like syndrome Allergic bronchopulmonary
1164
33355 AK2 deficiency Albright hereditary osteodystrophy- aspergillosis
79443
38 AKE PHP syndrome Ia 869 Allgrove syndrome
→357225 Akesson syndrome Albright hereditary osteodystrophy- 69063 Alloimmune neonatal renal disease
79445
AKT2-related familial partial PPHP syndrome 93925 Alobar holoprosencephaly
79085
lipodystrophy 98841 ALCL 1006 Alopecia antibody deficiency
79085 AKT2-related FPLD 60039 Alcock syndrome 700 Alopecia totalis
79151 AKV of Hopf 1915 Alcohol-related birth defects 701 Alopecia universalis
85443 AL amyloidosis Alcohol-related Alopecia-anosmia-conductive
1915
2232 Al Awadi-Farag-Teebi syndrome neurodevelopmental disorder 2316 hearing loss-hypogonadism
2879 Al Awadi-Raas-Rothschild syndrome 36899 Alcohol-responsive dystonia syndrome
→3157 Al Frayh-Facharzt-Haque syndrome 43 ALD Alopecia-anosmia-deafness-
2316
2725 Al Gazali-Al Talabani syndrome 324977 ALDD syndrome hypogonadism syndrome
2865 Al Gazali-Aziz-Salem syndrome ALDH18A1-related De Barsy Alopecia-contractures-dwarfism-
35664 1005
2153 Al Gazali-Donnai-Muller syndrome syndrome intellectual disability syndrome
2725 Al Gazali-Lytle syndrome 99763 Aldosterone synthase deficiency Alopecia-deafness-hypogonadism
202
syndrome
2773 Al Gazali-Nair syndrome
ORPHA ORPHA ORPHA
Alopecia-epilepsy-intellectual Alpha-N-acetylgalactosaminidase 1021 Amaurosis-hypertrichosis syndrome
2574 79280
disability syndrome, Moynahan type deficiency type 2 Ambiguous genitalia-disordered
Alopecia-epilepsy-pyorrhea- Alpha-N-acetylgalactosaminidase →95699 steroidogenesis Antley-Bixler-like
1008 79281
intellectual disability syndrome deficiency type 3 syndrome
Alopecia-hypogonadism- 62 Alpha-sarcoglycanopathy 1023 Ambras syndrome
→3464
extrapyramidal syndrome 846 Alpha-thalassemia 294969 Amelia of lower limb
Alopecia-intellectual disability 163596 Alpha-thalassemia hydrops fetalis 294967 Amelia of upper limb
2850
syndrome 93616 Alpha-thalassemia intermedia 314422 Ameloblastic carcinoma
Alopecia-intellectual disability- 163596 Alpha-thalassemia major 314419 Ameloblastoma
1014 hypergonadotropic hypogonadism Alpha-thalassemia-intellectual Amelocerebrohypohidrotic
syndrome 1946
98791 disability syndrome linked to syndrome
Alopecia-progressive neurological chromosome 16 88661 Amelogenesis imperfecta
157954
defect-endocrinopathy syndrome Alpha-thalassemia-myelodysplastic 100031 Amelogenesis imperfecta type 1
Alopecia-sensorineural deafness- 231401
202 syndrome 100033 Amelogenesis imperfecta type 2
hypogonadism syndrome Alpha-thalassemia-X-linked
847 100032 Amelogenesis imperfecta type 3
Alpers progressive sclerosing intellectual disability syndrome
726 100034 Amelogenesis imperfecta type 4
poliodystrophy 63 Alport deafness-nephropathy Amelogenesis imperfecta-gingival
726 Alpers syndrome 63 Alport syndrome →1031
hyperplasia syndrome
726 Alpers-Huttenlocher syndrome Alport syndrome with leukocyte Amelogenesis imperfecta-
734 Alpha delta granule deficiency →182050 inclusions and 1031
nephrocalcinosis syndrome
734 Alpha dense granule deficiency macrothrombocytopenia Ameloonychohypohidrotic
134 Alpha methylacetoacetic aciduria Alport syndrome with 1028
→182050 syndrome
721 Alpha storage pool deficiency macrothrombocytopenia 83595 American mountain fever
Alpha thalassemia-intellectual Alport syndrome-intellectual 3386 American trypanosomiasis
98791
disability syndrome, deletion type 86818 disability-midface hypoplasia-
2116 Aminoaciduria, Hartnup type
Alpha-1,4-glucosidase acid elliptocytosis syndrome
365 141 Aminoacylase 2 deficiency
deficiency 3261 ALPS
Aminopterin embryopathy
Alpha-1,4-glucosidase acid 436159 ALPS due to CTLA4 haploinsuffiency 1908
308552 syndrome
deficiency, infantile onset 275517 ALPS with recurrent viral infections
Aminopterin syndrome-like sine
Alpha-1,4-glucosidase acid 803 ALS 221120
420429 aminopterin
deficiency, late-onset 357043 ALS4 Aminopterin/methotrexate
60 Alpha-1-antitrypsin deficiency 86815 ALSG 1908
embryofetopathy
79154 Alpha-aminoadipic aciduria 313808 ALSP →33364 Amish brittle hair syndrome
Alpha-B crystallin-related late-onset 64 Alström syndrome 171714 Amish infantile epilepsy syndrome
399058
distal myopathy 99971 ALT 99742 Amish lethal microcephaly
Alpha-B crystallin-related late-onset 2131 Alternating hemiplegia of childhood
399058 98902 Amish nemaline myopathy
myopathy Alveolar capillary dysplasia with
210122 518 AMKL
324 Alpha-galactosidase A deficiency misalignment of pulmonary veins AML and myelodysplastic
100025 Alpha-HCD Alveolar capillary dysplasia with 102379 syndromes related to alkylating
100025 Alpha-heavy chain disease 210122
misalignment of pulmonary vessels agent
Alpha-ketoglutarate dehydrogenase 199306 Alveolar cleft lip and palate AML and myelodysplastic
31
deficiency 164726
284 Alveolar echinococcosis syndromes related to radiation
349 Alpha-L-fucosidase deficiency 99756 Alveolar rhabdomyosarcoma AML and myelodysplastic
579 Alpha-L-iduronidase deficiency 163699 Alveolar soft part sarcoma 102381 syndromes related to topoisomerase
61 Alpha-mannosidosis 163699 Alveolar soft tissue sarcoma type 2 inhibitor
309288 Alpha-mannosidosis, adult form Alveolar synechia-ankyloblepharon- 98832 AML M0
309282 Alpha-mannosidosis, infantile form →1071
ectodermal dysplasia syndrome 98833 AML M1
Alpha-methyl-acetoacetyl-CoA 306542 ALX1-related frontonasal dysplasia 98834 AML M2
134
thiolase deficiency 391474 ALX3-related frontonasal dysplasia 520 AML M3
Alpha-methyl-acyl-CoA racemase 228390 ALX4-related FNDAG 517 AML M4
79095
deficiency 169095 Alymphoid cystic thymic dysgenesis 514 AML M5
Alpha-N-acetylgalactosaminidase 93561 ALys amyloidosis 318 AML M6
3137
deficiency
79095 AMACR deficiency 518 AML M7
Alpha-N-acetylgalactosaminidase
79279 98918 AMAN 98831 AML with 11q23 abnormalities
deficiency type 1
65 Amaurosis congenita of Leber
ORPHA ORPHA ORPHA
AML with abnormal bone marrow 761 Anaphylactoid purpura Angioimmunoblastic T-cell
86886
98829 eosinophils inv(16)(p13q22) or 251589 Anaplastic astrocytoma lymphoma
t(16;16)(p13;q22) 251646 Anaplastic ependymoma 324 Angiokeratoma corporis diffusum
319480 AML with CEBPA somatic mutations 251957 Anaplastic ganglioglioma 95429 Angioma serpiginosum
AML with inv3(q21;q26.2) or 98841 Anaplastic large cell lymphoma 2346 Angioosteohypertrophic syndrome
402020
t(3;3)(q21;q26.2) 251663 Anaplastic oligoastrocytoma 75508 Angioosteohypotrophic syndrome
86845 AML with multilineage dysplasia 251630 263413 Angiosarcoma
Anaplastic oligodendroglioma
AML with myelodysplasia-related 142 Anaplastic thyroid carcinoma 74 Angiostrongyliasis
86845
features Anaplastic/large cell 98839 Angiotropic large cell lymphoma
402026 AML with NPM1 somatic mutations 251855
medulloblastoma 370039 Angora hair nevus
402014 AML with t(6;9)(p23;q34) 93347 Anauxetic dysplasia 76 Anguilluliasis
AML with t(8;16)(p11;p13) 79262 ANCL 76 Anguillulosis
370026
translocation 78 Ancylostomiasis 238468 Anhidrotic ectodermal dysplasia
AML with t(8;21)(q22;q22) 1496 Andermann syndrome Anhidrotic ectodermal dysplasia
102724
translocation 98813
367 Andersen disease with immunodeficiency
402017 AML with t(9;11)(p22;q23)
37553 Andersen syndrome Anhidrotic ectodermal dysplasia-
AML with 69088 immunodeficiency-osteopetrosis-
37553 Andersen-Tawil syndrome
520 t(15;17)(q22;q12);(PML/RARalpha) lymphedema syndrome
and variants
71 Anderson disease
324 Anderson-Fabry disease Anhidrotic ectodermic dysplasia-
86818 AMME complex →1071
99916 Androblastoma cleft lip/palate syndrome
86818 AMME syndrome 1069 Aniridia-absent patella syndrome
517 AMMoL
329813 Androgenetic/biparental mosaicism
157954 ANE syndrome Aniridia-cerebellar ataxia-
295000 Amniotic band sequence 1065
intellectual disability syndrome
263524 ANEC
295000 Amniotic band syndrome Aniridia-intellectual disability
1054 Aneurysm of sinus of Valsalva 1068
488239 AMNR syndrome
251663 aMOA Aneurysm or dilatation of ascending
95484 Aniridia-ptosis-intellectual
aorta 1067
Amoebiasis due to Entamoeba disability-familial obesity syndrome
67 284984 Aneurysm-osteoarthritis syndrome
histolytica Aniridia-renal agenesis-
480553 Aneurysmal bone cyst 1064
Amoebiasis due to free-living psychomotor retardation syndrome
68 353344 Aneurysmal telangiectasia
amoebae 1070 Anisakiasis
45 AMP deaminase deficiency Angel-shaped phalango-epiphyseal ANK3-related intellectual disability-
63442
dysplasia 356996
1035 Ampola syndrome sleep disturbance syndrome
72 Angelman syndrome
66529 Ampulla cardiomyopathy 86873 ANKCL
300557 Ampullary carcinoma Angelman syndrome due to a point Ankyloblepharon filiforme
411511
mutation 1072
300557 Ampulloma adnatum-cleft palate syndrome
Angelman syndrome due to Ankyloblepharon filiforme
163696 AMRF 411515
imprinting defect in 15q11-q13 1074 adnatum-imperforate anus
98917 AMSAN
Angelman syndrome due to syndrome
366 Amylo-1,6-glucosidase deficiency 98794
maternal 15q11q13 deletion Ankyloblepharon-ectodermal
49804 Amyloid lichen 1071
Angelman syndrome due to defects-cleft lip/palate syndrome
319635 Amyloidosis cutis dyschromia 98794
maternal monosomy 15q11q13 Ankylosing vertebral hyperostosis
319635 Amyloidosis cutis dyschromica Angelman syndrome due to 2206
with tylosis
85450 Amyloidosis, Ostertag type 98795 paternal uniparental disomy of 1077 Ankylosis of teeth
367 Amylopectinosis chromosome 15
78 Ankylostomiasis
488586 Amyoplasia congenita Angiocentric cutaneous T-cell
364039 254411 Annular atrophic lichen planus
803 Amyotrophic lateral sclerosis lymphoma of childhood
254411 Annular atrophic LP
357043 Amyotrophic lateral sclerosis type 4 251671 Angiocentric glioma
281139 Annular epidermolytic ichthyosis
Amyotrophic lateral sclerosis- 86879 Angiocentric T-cell lymphoma
90020 254424 Annular lichen planus
parkinsonism-dementia complex Angiodysgenetic necrotizing
79093 254424 Annular LP
Amyotrophic lateral sclerosis- myelopathy
90020 parkinsonism-dementia of Guam 675 Annular pancreas
Angioendotheliomatosis proliferans
98839 229 Annuloaortic ectasia
syndrome systemisata
Amyotrophy-fat tissue anomaly Angiofollicular ganglionic 457205 ANOAC
2615 160
syndrome hyperplasia 99797 Anodontia
228113 Anal fistula 160 Angiofollicular lymph hyperplasia Anomaly of the mitral subvalvular
101932
31150 Analphalipoproteinemia apparatus
ORPHA ORPHA ORPHA
94150 Anonychia congenita totalis 435372 Anterior urethral valve 974 AOS
Anonychia with flexural 90079 Anthracycline extravasation 829 AOSD
69125
pigmentation 36412 Anti-C1q vasculitis 280763 AP4 deficiency syndrome
1094 Anonychia-microcephaly syndrome 375 Anti-GBM syndrome 747 aPAP
Anonychia-onychodystrophy Anti-glomerular basement 206583 APBD
90390 375
syndrome membrane disease 247806 APC-related AFAP
Anonychia-onychodystrophy with 2194 Anti-HLA hyperimmunization APC-related attenuated familial
1487 hypoplasia or absence of distal 247806
206569 Anti-HMG-CoA myopathy adenomatous polyposis
phalanges syndrome 420789 Anti-IgLON5 disease APC-related attenuated familial
1104 Anophthalmia plus syndrome 247806
420789 Anti-IgLON5 syndrome polyposis coli
Anophthalmia-heart and pulmonary 81 Anti-Jo1 syndrome 247806 APC-related attenuated FAP
→2470 anomalies-intellectual disability 275944 Anti-K HDN 397596 APDS
syndrome 3453 APECED syndrome
639 Anti-MAG neuropathy
Anophthalmia-hypothalamo- 87 Apert syndrome
→3157 454710 Anti-p200 pemphigoid
pituitary insufficiency syndrome
206569 Anti-SRP myopathy Aphalangy-hemivertebrae-
Anophthalmia-megalocornea- 1112 urogenital-intestinal dysgenesis
1101 cardiopathy-skeletal anomalies Antineutrophil cytoplasmic
97564 antibody-negative pauci-immune syndrome
syndrome
glomerulonephritis Aphalangy-syndactyly-microcephaly
Anophthalmia-pulmonary 1113
2470 2821 Antinolo-Nieto-Borrego syndrome syndrome
hypoplasia syndrome
3006 Antiquitin deficiency 49 Aphallia
1106 Anophthalmia-syndactyly syndrome
81 Antisynthetase syndrome Aphonia-deafness-retinal
Anophthalmia/microphthalmia- 324540 dystrophy-bifid halluces-intellectual
77298 83 Antley-Bixler syndrome
esophageal atresia syndrome disability syndrome
1882 ANOTHER syndrome →95699 Antley-Bixler syndrome type 2
Antley-Bixler syndrome with genital Aphonia-deafness-retinal
93976 Anotia 324540 dystrophy-duplicated halluces-
→95699 anomaly and disorder of
2987 Antecubital pterygium syndrome intellectual disability syndrome
steroidogenesis
93604 Antenatal Bartter syndrome Aphonia-hearing loss-retinal
Antley-Bixler syndrome, POR-
294 Antenatal CMV infection →95699 324540 dystrophy-duplicated halluces-
related
294 Antenatal cytomegalovirus infection intellectual disability syndrome
1190 AO1
70596 Antenatal EBV infection 66529 Apical ballooning syndrome
56304 AO2
292 Antenatal enterovirus infection 324530 APLAID
56305 AO3
Antenatal Epstein-Barr virus 1114 Aplasia cutis congenita
70596 1168 AOA1
infection Aplasia cutis congenita-epibulbar
64753 AOA2 3339
Antenatal herpes simplex virus dermoids syndrome
293 459033 AOA4
infection Aplasia cutis congenita-intestinal
99000 AOFMD 1116
Antenatal multiminicore disease lymphangiectasia syndrome
178148 with arthrogryposis multiplex 1190 AOI Aplasia cutis congenita-nevus
56304 AOII 370046
congenita sebaceus syndrome
291 Antenatal varicella virus infection 56305 AOIII 1117 Aplasia cutis-myopia syndrome
Anterior basement membrane 1457 Aorta coarctation Aplasia of lacrimal and salivary
98956 86815
dystrophy Aortic aneurysm syndrome due to glands
60030
Anterior bowing of legs with TGF-beta receptors anomalies Aplasia of tibia with split-
3344 3329
dwarfism Aortic arch anomaly-facial hand/split-foot deformity
Anterior cutaneous nerve 1110 dysmorphism-intellectual disability Aplasia/hypoplasia of limbs and
51890 2879
entrapment syndrome syndrome pelvis
1931 Anterior encephalocele 2299 Aortic arch interruption 520 APML
Anterior limiting membrane Aortic dilatation-joint 70590 Apnea of infancy
98961 →91387
dystrophy type 1 hypermobility-arterial tortuosity 99981 Apnea of prematurity
Anterior limiting membrane syndrome
98960 425 ApoA-I deficiency
dystrophy type 2 95448 Aortic valve atresia
294986 Apodia
Anterior limiting membrane 101043 Aortic valve dysplasia
98961 93560 Apolipoprotein A-I amyloidosis
dystrophy type I 99071 Aorto-left ventricular tunnel
425 Apolipoprotein A-I deficiency
Anterior limiting membrane 99070 Aorto-right ventricular tunnel
98960 238269 Apolipoprotein A-II amyloidosis
dystrophy type II 3400 Aorto-ventricular tunnel
439232 Apolipoprotein A-IV amyloidosis
95512 Anterior pituitary hypophysitis Aortopulmonary coronary arterial
99086 320 Apparent mineralocorticoid excess
course
ORPHA ORPHA ORPHA
Appendiceal mucinous 2697 ARC syndrome Arrhinia-choanal atresia-
391723 1135
adenocarcinoma 88644 ARCA1 microphthalmia syndrome
100079 Appendiceal NEN 139485 ARCA2 260305 ARSA
Appendiceal neuroendocrine 90349 ARCL1 98 ARSACS
100079
neoplasm 221145 ARCL1C 314603 ARSAL
1201 Apple peel syndrome 357074 ARCL2, classic type 583 ARSB deficiency
Apple-peel intestinal atresia-ocular 357074 ARCL2, Debré type 357107 Arterial cervical rib syndrome
506307
anomalies-microcephaly syndrome 357064 ARCL2, progeroid type 357107 Arterial costoclavicular syndrome
Aprosencephaly cerebellar 357058 ARCL2A Arterial dissection-lentiginosis
1126 1682
dysgenesis 357064 ARCL2B syndrome
976 APRT deficiency 357107 Arterial hyperabduction syndrome
324442 ARCMT2-NM
3453 APS1 101097 ARCMT2K 357107 Arterial scalenus anticus syndrome
3143 APS2 Arterial thoracic outlet compression
466775 ARCMT2X 357107
227982 APS3 syndrome
1133 AREDYLD syndrome
227990 APS4 357107 Arterial thoracic outlet syndrome
101096 Aregenerative anemia
3453 APS type 1 512103 AREI 3342 Arterial tortuosity syndrome
3143 APS type 2 357107 Arterial TOS
→702 Arena syndrome
227982 APS type 3 52 Arteriohepatic dysplasia
75377 Areolar atrophy of the macula
227990 APS type 4 Arteriohepatic dysplasia due to a
319223 Argentine hemorrhagic fever 261619
101206 APV/ADA, Fallot type JAG1 point mutation
319223 Argentinian hemorrhagic fever
99048 APV/PDA, non-Fallot type Arteriohepatic dysplasia due to a
90 Arginase deficiency 261629
498359 Aquagenic keratoderma NOTCH2 point mutation
90 Argininemia
Aquagenic palmoplantar Arteriohepatic dysplasia due to
498359 23 Argininosuccinase deficiency 261600
keratoderma monosomy 20p12
Argininosuccinate synthase
Aquagenic syringeal 247525 Arteriovenous malformation of
498359 deficiency 141174
acrokeratoderma mandible
Argininosuccinate synthetase
498359 Aquagenic wrinkling of the palms 247525 Arteriovenous malformation of
deficiency 141171
402041 AR dRTA maxilla
23 Argininosuccinatelyase deficiency
→402041 AR dRTA with deafness 29207 Arthritis urethritica
Argininosuccinic acid lyase
→402041 AR dRTA with hearing loss 23 955 Arthrodentoosteodysplasia
deficiency
→402041 AR dRTA without deafness Arthrogryposis multiplex congenita-
Argininosuccinic acid synthase 994
→402041 AR dRTA without hearing loss 247525 pulmonary hypoplasia syndrome
deficiency
93607 AR pRTA Arthrogryposis multiplex congenita-
Argininosuccinic acid synthetase 1150
90119 AR-CMT2 with acrodystrophy
247525 whistling face syndrome
deficiency
90118 AR-CMT2, Ouvrier type Arthrogryposis-ectodermal
23 Argininosuccinic aciduria 3200
dysplasia-other anomalies syndrome
98856 AR-CMT2B1 60014 Argyria
Arthrogryposis-hyperkeratosis
101101 AR-CMT2B2 289176 ARHR 1485
syndrome, lethal form
228374 AR-CMT2B5 79235 Arias syndrome Arthrogryposis-like hand anomaly-
101102 AR-CMT2C 2318 Arima syndrome 1144
sensorineural deafness syndrome
495274 AR-CMT2T 950 Arkless-Graham syndrome 1149 Arthrogryposis-like syndrome
169186 AR-CNM 85276 Armfield syndrome Arthrogryposis-oculomotor
248 AR-HED 1915 ARND 1154 limitation-electroretinal anomalies
88616 AR-NSID 167635 Arndt-Gottron disease syndrome
731 AR-PKD 268882 Arnold-Chiari malformation type 1 Arthrogryposis-renal dysfunction-
2697
447760 AR-SPG9B 1136 Arnold-Chiari malformation type 2 cholestasis syndrome
Arachnodactyly-abnormal 268882 Arnold-Chiari malformation type I Arthrogryposis-severe scoliosis
65720
1129 ossification-intellectual disability 1136 Arnold-Chiari malformation type II syndrome
syndrome 91 Aromatase deficiency Arthropathy-camptodactyly
2848
Arachnodactyly-intellectual 178345 Aromatase excess syndrome syndrome
1130
disability-dysmorphism syndrome Aromatic L-amino acid 1187 Arts syndrome
2356 Arachnoid cyst 35708
decarboxylase deficiency 512 Arylsulfatase A deficiency
137817 Arachnoiditis 254886 arPEO Arylsulfatase A deficiency, adult
309271
324442 ARAN-NM 99916 form
Arrhenoblastoma
1915 ARBD
ORPHA ORPHA ORPHA
Arylsulfatase A deficiency, juvenile Ataxia with isolated vitamin E 231401 ATMDS
309263 96
form deficiency 163934 Atopic keratoconjunctivitis
Arylsulfatase A deficiency, late 3008 Ataxia with lactic acidosis type 2 357107 ATOS
309256
infantile form 3008 Ataxia with lactic acidosis type II ATP1A1-related autosomal
583 Arylsulfatase B deficiency 94147 Ataxia with pigmentary retinopathy 521414 dominant Charcot-Marie-Tooth
Arylsulfatase B deficiency, rapidly 96 Ataxia with vitamin E deficiency disease type 2
276212
progressing Ataxia-deafness-intellectual 521414 ATP1A1-related CMT2
1188
Arylsulfatase B deficiency, slowly disability syndrome ATP7A-related distal motor
276223 139557
progressing Ataxia-delayed dentition- neuropathy
137639
81 AS syndrome hypomyelination syndrome ATP-binding cassette transporter A1
31150
23 ASA deficiency Ataxia-diabetes-goiter-gonadal deficiency
1227
231466 ASAN insufficiency syndrome ATP13A2-related juvenile neuronal
314632
583 ASB deficiency Ataxia-hearing loss-intellectual ceroid lipofuscinosis
1188
2302 Asbestos intoxication disability syndrome ATR syndrome linked to
98791
2302 Asbestosis Ataxia-hypogonadism-choroidal chromosome 16
1180
1253 Ascher syndrome dystrophy syndrome 98791 ATR syndrome, deletion type
447997 ASCT1 deficiency Ataxia-intellectual disability- 98791 ATR-16 syndrome
1478 ASD 370022 oculomotor apraxia-cerebellar cysts 847 ATR-X syndrome
352490 ASD due to AUTS2 deficiency syndrome 1201 Atresia of small intestine
1168 Ataxia-oculomotor apraxia type 1 105 Atresia of urethra
99104 ASD, coronary sinus type
99106 ASD, ostium primum type
64753 Ataxia-oculomotor apraxia type 2 Atrial cardiomyopathy with heart
1344
459033 Ataxia-oculomotor apraxia type 4 block
99103 ASD, ostium secundum type
2585 Ataxia-pancytopenia syndrome 99107 Atrial septal aneurysm
99105 ASD, sinus venosus type
54251 Aseptic abscesses syndrome Ataxia-photosensitivity-short 1478 Atrial septal defect
1184
stature syndrome Atrial septal defect, coronary sinus
97337 Aseptic necrosis of patella 99104
Ataxia-tapetoretinal degeneration type
Aseptic necrosis of phalangeal 1178
3314 syndrome Atrial septal defect, ostium primum
epiphyses 99106
100 Ataxia-telangiectasia type
Aseptic necrosis of the capital
2380 370109 Ataxia-telangiectasia variant Atrial septal defect, ostium
femoral epiphysis 99103
Aseptic necrosis of the capital
647 Ataxia-telangiectasia, variant 1 secundum type
97336 251347 Ataxia-telangiectasia-like disorder Atrial septal defect, sinus venosus
humerus 99105
97332 Aseptic necrosis of the lunate bone Ataxie spinocérébelleuse à début type
352403
2054 Aseptic necrosis of the tarsal bone infantile avec retard psychomoteur Atrial septal defect-atrioventricular
1479
1183 Ataxo-opso-myoclonus syndrome conduction defects syndrome
Aseptic necrosis of the tibial
97335 1190 Atelosteogenesis type 1 1344 Atrial standstill
tubercle
57194 Aseptic osteitis 56304 Atelosteogenesis type 2 Atrial tachyarrhythmia with short
844
56305 Atelosteogenesis type 3 PR interval
54251 Aseptic systemic abscesses
1190 Atelosteogenesis type I 86819 Atrichia with papular lesions
137686 Asherman syndrome
56304 Atelosteogenesis type II 392 Atriodigital dysplasia type 1
276198 Asidan
56305 Atelosteogenesis type III 1350 Atriodigital dysplasia type 2
23 ASL deficiency
Athabascan brainstem dysgenesis 1342 Atriodigital dysplasia type 3
391376 Asparagine synthetase deficiency 69739
syndrome Atriodigital dysplasia, Slovenian
141 Aspartoacylase deficiency 168796
Athabaskan brainstem dysgenesis type
93 Aspartylglucosaminidase deficiency 69739
syndrome Atrioventricular defect-
93 Aspartylglucosaminuria
Atherosclerosis-deafness-diabetes- 1352 blepharophimosis-radial and anal
63442 ASPED 1192 defect syndrome
epilepsy-nephropathy syndrome
1163 Aspergillosis 86813 Atrophia areata
95713 Athyreosis
Asphyxiating thoracic dystrophy of 649 Atrophia bulborum hereditaria
474 Athyroidal hypothyroidism-spiky
the newborn 1226
254449 Atrophic lichen planus
hair-cleft palate syndrome
163699 ASPS 254449 Atrophic LP
250977 ATIC deficiency
247525 ASS deficiency
1193 Atkin-Flaitz syndrome 79100 Atrophoderma vermiculata
221120 ASSA
99666 Atlantoaxial subluxation 99966 ATRT
85175 Astley-Kendall dysplasia 71289 ATRUS syndrome
251347 ATLD
251679 Astroblastoma
86875 ATLL 3342 ATS
647 AT V1
139423 ATM/TM 86818 ATS-MR
ORPHA ORPHA ORPHA
Attenuated Chédiak-Higashi 93580 Atypical HUS with I factor anomaly Autism spectrum disorder-epilepsy-
352723 370943
syndrome Atypical HUS with MCP/CD46 arthrogryposis syndrome
93576
Attenuated familial adenomatous anomaly Autism-epilepsy syndrome due to
220460
polyposis Atypical HUS with thrombomodulin 308410 branched chain ketoacid
217023
220460 Attenuated familial polyposis coli anomaly dehydrogenase kinase deficiency
220460 Attenuated FAP Atypical hypotonia-cystinuria Autism-facial port-wine stain
238523 137911
85451 ATTR cardiomyopathy syndrome syndrome
85451 ATTRV122I amyloidosis 391411 Atypical juvenile parkinsonism Autoerythrocyte sensitization
324636
85451 ATTRV122I-related amyloidosis 86797 Atypical lichen myxedematosus syndrome
85447 ATTRV30M amyloidosis 99971 Atypical lipoma 85138 Autoimmune Addison disease
85447 ATTRV30M-related amyloidosis 99971 Atypical lipomatous tumor 85138 Autoimmune adrenalitis
330001 ATTRwt amyloidosis 314466 Atypical Meigs syndrome Autoimmune encephalopathy with
2578 Atypical MRKH syndrome 420789 parasomnia and obstructive sleep
330001 ATTRwt-related amyloidosis
289863 Atypical NKA apnea
199627 Atypical autism
Atypical non-ketotic Autoimmune enteropathy and
352723 Atypical Chédiak-Higashi syndrome 289863 391487 endocrinopathy-susceptibility to
251902 Atypical choroid plexus papilloma hyperglycinemia
chronic infections syndrome
98824 Atypical chronic myeloid leukemia Atypical Norrie disease due to
261501 37042 Autoimmune enteropathy type 1
1456 Atypical coarctation of aorta del(X)(p11.3)
Atypical Norrie disease due to Autoimmune hemolytic anemia and
251902 Atypical CPP 1959
261501 autoimmune thrombocytopenia
314466 Atypical Demons-Meigs syndrome monosomy Xp11.3
Atypical Norrie disease due to Autoimmune hemolytic anemia,
Atypical dentin dysplasia due to 90033
261501 warm type
314721 Xp11.3 microdeletion
SMOC2 deficiency Autoimmune hemolytic anemia-
398147 Atypical facial pain Atypical pantothenate kinase-
216873 autoimmune thrombocytopenia-
associated neurodegeneration 444463
Atypical Gaucher disease due to primary immunodeficiency
309252 251902 Atypical papilloma of choroid plexus
saposin C deficiency syndrome
289863 Atypical glycine encephalopathy Atypical parkinsonism in the
97355 2137 Autoimmune hepatitis
Caribbean
98961 Atypical granular corneal dystrophy 36913 Autoimmune hypoparathyroidism
79474 Atypical progeroid syndrome
238523 Atypical HCS Autoimmune hypoparathyroidism-
Atypical progressive supranuclear
Atypical hemolytic-uremic 99750 3453 chronic candidiasis-Addison disease
2134 palsy syndrome
syndrome syndrome
99750 Atypical PSP syndrome
Atypical hemolytic-uremic Autoimmune interstitial lung
3095 Atypical Rett syndrome 444092
93581 syndrome with anti-factor H disease-arthritis syndrome
antibodies 3095 Atypical RTT Autoimmune lymphoproliferative
99966 Atypical teratoid rhabdoid tumor 3261
Atypical hemolytic-uremic syndrome
93578 Atypical tuberous myxedema of
syndrome with B factor anomaly 90393 Autoimmune lymphoproliferative
Atypical hemolytic-uremic Jadassohn-Dosseker 436159 syndrome due to CTLA4
93575 79474 Atypical Werner syndrome
syndrome with C3 anomaly haploinsuffiency
Atypical hemolytic-uremic 16 Atypical X-linked achromatopsia Autoimmune lymphoproliferative
357008
syndrome with DGKE deficiency 453504 Au-Kline syndrome 275517 syndrome with recurrent viral
Atypical hemolytic-uremic 166415 Audiogenic seizures infections
93579
syndrome with H factor anomaly 1074 Aughton-Hufnagle syndrome 589 Autoimmune myasthenia gravis
Atypical hemolytic-uremic Aural atresia-multiple congenital 206569 Autoimmune necrotizing myositis
93580
syndrome with I factor anomaly 1488 anomalies-intellectual disability 103919 Autoimmune pancreatitis
Atypical hemolytic-uremic syndrome 280302 Autoimmune pancreatitis type 1
93576
syndrome with MCP/CD46 anomaly →794 Auralcephalosyndactyly 280315 Autoimmune pancreatitis type 2
Atypical hemolytic-uremic Auricular abnormalities-cleft lip 747 Autoimmune PAP
217023 syndrome with thrombomodulin 77300 with or without cleft palate-ocular Autoimmune polyendocrine
anomaly abnormalities syndrome 3453
syndrome type 1
2134 Atypical HUS 137888 Auriculocondylar syndrome Autoimmune polyendocrine
Atypical HUS with anti-factor H 114 Auriculoosteodysplasia 3143
93581 syndrome type 2
antibodies →794 Aurocephalosyndactyly Autoimmune polyendocrine
93578 Atypical HUS with B factor anomaly 227982
Ausems-Wittebol Post-Hennekam syndrome type 3
1995
93575 Atypical HUS with C3 anomaly syndrome Autoimmune polyendocrine
227990
357008 Atypical HUS with DGKE deficiency Autism spectrum disorder due to syndrome type 4
352490
93579 Atypical HUS with H factor anomaly AUTS2 deficiency
ORPHA ORPHA ORPHA
Autoimmune polyendocrinopathy Autosomal dominant centronuclear Autosomal dominant Charcot-
3453 169189 99945
type 1 myopathy Marie-Tooth disease type 2L
Autoimmune polyendocrinopathy Autosomal dominant cerebellar Autosomal dominant Charcot-
3143 228179
type 2 314404 ataxia-deafness-narcolepsy Marie-Tooth disease type 2M
Autoimmune polyendocrinopathy syndrome Autosomal dominant Charcot-
227982 228174
type 3 Autosomal dominant Charcot- Marie-Tooth disease type 2N
Autoimmune polyendocrinopathy 487814 Marie-Tooth disease type 2 due to Autosomal dominant Charcot-
227990 284232
type 4 DGAT2 mutation Marie-Tooth disease type 2O
Autoimmune polyendocrinopathy- Autosomal dominant Charcot- Autosomal dominant Charcot-
329258
3453 candidiasis-ectodermal dystrophy 488333 Marie-Tooth disease type 2 due to Marie-Tooth disease type 2Q
syndrome HARS mutation Autosomal dominant Charcot-
397735
Autoimmune polyglandular Autosomal dominant Charcot- Marie-Tooth disease type 2U
3453
syndrome type 1 324611 Marie-Tooth disease type 2 due to Autosomal dominant Charcot-
KIF5A mutation 447964
Autoimmune polyglandular Marie-Tooth disease type 2V
3143
syndrome type 2 Autosomal dominant Charcot- Autosomal dominant Charcot-
397735 Marie-Tooth disease type 2 due to 488333
Autoimmune polyglandular Marie-Tooth disease type 2W
227982 MARS mutation
syndrome type 3 Autosomal dominant Charcot-
435387
Autoimmune polyglandular Autosomal dominant Charcot- Marie-Tooth disease type 2Y
227990 466768 Marie-Tooth disease type 2 due to
syndrome type 4 Autosomal dominant Charcot-
MORC2 mutation 466768
Autoimmune pulmonary alveolar Marie-Tooth disease type 2Z
747 Autosomal dominant Charcot-
proteinosis 98975 Autosomal dominant CHED
Autoimmune thrombotic 447964 Marie-Tooth disease type 2 due to
93585 Autosomal dominant childhood-
thrombocytopenic purpura NAGLU mutation 363447 onset proximal spinal muscular
Autoimmune thyroid disease and/or Autosomal dominant Charcot- atrophy
3143 type 1 diabetes-Addison disease 435819 Marie-Tooth disease type 2 due to Autosomal dominant
TFG mutation 79344
syndrome chondrodysplasia punctata
Autoinflammation-lipodystrophy- Autosomal dominant Charcot- Autosomal dominant
324977 435387 Marie-Tooth disease type 2 due to
dermatosis syndrome →2526 chorioretinopathy-microcephaly
Autoinflammation-PLCG2- VCP mutation syndrome
324530 associated antibody deficiency- Autosomal dominant Charcot- Autosomal dominant coarctation of
401964 Marie-Tooth disease type 2 with 1455
immune dysregulation aorta
Autoinflammatory disease due to giant axons
Autosomal dominant congenital
Autosomal dominant Charcot- 1216
210115 interleukin-1 receptor antagonist 99946 benign spinal muscular atrophy
deficiency Marie-Tooth disease type 2A1
Autosomal dominant congenital
Autoinflammatory syndrome with 99947 hereditary endothelial dystrophy
329173 pyogenic bacterial infection and Marie-Tooth disease type 2A2
Autosomal dominant cortical
amylopectinosis 99936 myoclonus and epilepsy
33110 Autosomal agammaglobulinemia Marie-Tooth disease type 2B
90348 Autosomal dominant cutis laxa
Autosomal dominant adult-onset Autosomal dominant Charcot-
209335 99937 Autosomal dominant cystoid
proximal SMA Marie-Tooth disease type 2C 75381
macular edema
Autosomal dominant adult-onset Autosomal dominant Charcot-
209335 99938 Autosomal dominant deafness-
proximal spinal muscular atrophy Marie-Tooth disease type 2D 79499
onychodystrophy syndrome
Autosomal dominant Alport Autosomal dominant Charcot-
88918 521414 Autosomal dominant diffuse
syndrome Marie-Tooth disease type 2DD
2337 palmoplantar keratoderma,
Autosomal dominant anhidrotic Autosomal dominant Charcot- Norrbotten type
1810 99939
ectodermal dysplasia Marie-Tooth disease type 2E
Autosomal dominant distal axonal
Autosomal dominant aplasia and Autosomal dominant Charcot- 476093 motor neuropathy-myofibrillar
314399 99940
myelodysplasia Marie-Tooth disease type 2F myopathy syndrome
Autosomal dominant aplastic Autosomal dominant Charcot- Autosomal dominant distal juvenile
314399 99941
Marie-Tooth disease type 2G 139518
anemia and myelodysplasia spinal muscular atrophy type 1
Autosomal dominant benign distal Autosomal dominant Charcot- Autosomal dominant distal renal
1216 99942
Marie-Tooth disease type 2I 93608
spinal muscular atrophy tubular acidosis
Autosomal dominant beta2- Autosomal dominant Charcot- Autosomal dominant dopa-
314652 99943
Marie-Tooth disease type 2J 98808
microglobulinic amyloidosis responsive dystonia
93304 Autosomal dominant brachyolmia Autosomal dominant Charcot-
99944
Marie-Tooth disease type 2K
ORPHA ORPHA ORPHA
Autosomal dominant dystrophic Autosomal dominant Autosomal dominant limb-girdle
89937 34517
→231568 epidermolysis bullosa, Cockayne- hypophosphatemic rickets muscular dystrophy type 1E
Touraine type Autosomal dominant intellectual Autosomal dominant limb-girdle
55595
Autosomal dominant dystrophic 457193 disability-craniofacial anomalies- muscular dystrophy type 1F
231568 epidermolysis bullosa, Pasini and cardiac defects syndrome Autosomal dominant limb-girdle
55596
Cockayne-Touraine types Autosomal dominant intermediate muscular dystrophy type 1G
100043
Autosomal dominant dystrophic Charcot-Marie-Tooth disease type A Autosomal dominant limb-girdle
→231568 238755
epidermolysis bullosa, Pasini type Autosomal dominant intermediate muscular dystrophy type 1H
100044
Autosomal dominant ectodermal Charcot-Marie-Tooth disease type B Autosomal dominant
140957
300576 dysplasia-cancer predisposition Autosomal dominant intermediate macrothrombocytopenia
100045
syndrome Charcot-Marie-Tooth disease type C Autosomal dominant medullary
34149
Autosomal dominant Emery- Autosomal dominant intermediate cystic kidney disease
98853 100046
Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type D Autosomal dominant medullary
88950
Autosomal dominant epidermolytic Autosomal dominant intermediate cystic kidney disease type 2
312 93114
ichthyosis Charcot-Marie-Tooth disease type E Autosomal dominant mendelian
Autosomal dominant epilepsy with Autosomal dominant intermediate susceptibility to mycobacterial
101046 352670 319581
auditory features Charcot-Marie-Tooth disease type F diseases due to partial IFNgammaR1
Autosomal dominant familial Autosomal dominant intermediate deficiency
73229 hematuria-retinal arteriolar 324585 Charcot-Marie-Tooth disease with Autosomal dominant mendelian
tortuosity-contractures syndrome neuropathic pain susceptibility to mycobacterial
319589
Autosomal dominant focal dystonia, Autosomal dominant isolated diseases due to partial IFNgammaR2
329466 90635
DYT25 type neurosensory deafness type DFNA deficiency
Autosomal dominant focal non- Autosomal dominant isolated Autosomal dominant mendelian
402003 epidermolytic palmoplantar 90635 neurosensory hearing loss type susceptibility to mycobacterial
319581
keratoderma with plantar blistering DFNA diseases due to partial interferon
Autosomal dominant gingival Autosomal dominant isolated gamma receptor 1 deficiency
2024 90635
fibromatosis sensorineural deafness type DFNA Autosomal dominant mendelian
Autosomal dominant gingival Autosomal dominant isolated susceptibility to mycobacterial
2024 319589
hyperplasia 90635 sensorineural hearing loss type diseases due to partial interferon
Autosomal dominant hereditary DFNA gamma receptor 2 deficiency
139491
hemochromatosis Autosomal dominant Kenny-Caffey Autosomal dominant mitochondrial
93325 457050
Autosomal dominant hereditary syndrome myopathy with exercise intolerance
401964 motor and sensory neuropathy type 2334 Autosomal dominant keratitis Autosomal dominant MSMD due to
319581
2 with giant axons Autosomal dominant keratoconus partial IFNgammaR1 deficiency
2314 Autosomal dominant HIES 293936 with early-onset anterior polar Autosomal dominant MSMD due to
319589
Autosomal dominant hyper-IgE cataracts partial IFNgammaR2 deficiency
2314
syndrome Autosomal dominant late-onset Autosomal dominant MSMD due to
411602 319581 partial interferon gamma receptor 1
Autosomal dominant Parkinson disease
2314
hyperimmunoglobulin E syndrome Autosomal dominant late-onset deficiency
67042 Autosomal dominant MSMD due to
Autosomal dominant retinal degeneration
276580 hyperinsulinemic hypoglycemia due Autosomal dominant late-onset 319589 partial interferon gamma receptor 2
209335 deficiency
to Kir6.2 deficiency spinal muscular atrophy, Finkel type
Autosomal dominant Autosomal dominant lateral Autosomal dominant multiple
101046 65743
276575 hyperinsulinemic hypoglycemia due temporal lobe epilepsy pterygium syndrome
to SUR1 deficiency Autosomal dominant 99846 Autosomal dominant myoglobinuria
Autosomal dominant 313808 leukoencephalopathy with Autosomal dominant myopia-
276580 hyperinsulinism due to Kir6.2 neuroaxonal spheroids midfacial retrusion-sensorineural
440354
deficiency Autosomal dominant limb-girdle hearing loss-rhizomelic dysplasia
266 syndrome
Autosomal dominant muscular dystrophy type 1A
276575 hyperinsulinism due to SUR1 Autosomal dominant limb-girdle Autosomal dominant neovascular
264 329211
deficiency muscular dystrophy type 1B inflammatory vitreoretinopathy
428 Autosomal dominant hypocalcemia Autosomal dominant limb-girdle Autosomal dominant nocturnal
265 98784
Autosomal dominant hypohidrotic muscular dystrophy type 1C frontal lobe epilepsy
1810
ectodermal dysplasia Autosomal dominant limb-girdle Autosomal dominant non-
34516 178469
Autosomal dominant muscular dystrophy type 1D syndromic intellectual disability
89937
hypophosphatemia
ORPHA ORPHA ORPHA
Autosomal dominant non- Autosomal dominant preaxial Autosomal dominant spastic
101009
90635 syndromic neurosensory deafness 476119 polydactyly-upperback paraplegia type 29
type DFNA hypertrichosis syndrome Autosomal dominant spastic
101011
Autosomal dominant non- Autosomal dominant primary paraplegia type 31
34528
90635 syndromic neurosensory hearing loss hypomagnesemia with hypocalciuria Autosomal dominant spastic
320365
type DFNA Autosomal dominant primary paraplegia type 36
2514
Autosomal dominant non- microcephaly Autosomal dominant spastic
171612
90635 syndromic sensorineural deafness 2964 Autosomal dominant prognathism paraplegia type 37
type DFNA Autosomal dominant progressive Autosomal dominant spastic
254892 171617
Autosomal dominant non- external ophthalmoplegia paraplegia type 38
90635 syndromic sensorineural hearing loss Autosomal dominant progressive Autosomal dominant spastic
type DFNA 88659 320355
nephropathy with hypertension paraplegia type 41
93328 Autosomal dominant omodysplasia Autosomal dominant proximal renal Autosomal dominant spastic
314889 171863
Autosomal dominant Opitz BBB/G tubular acidosis paraplegia type 42
306588
syndrome Autosomal dominant Autosomal dominant spastic
171871 444099
Autosomal dominant Opitz G/BBB pseudohypoaldosteronism type 1 paraplegia type 73
306588
syndrome Autosomal dominant Autosomal dominant
209867 1797
Autosomal dominant Opitz rhegmatogenous retinal detachment spondylocostal dysostosis
306588
syndrome Autosomal dominant Robinow Autosomal dominant
3107 1797
Autosomal dominant optic atrophy syndrome spondylocostal dysplasia
67036
and cataract Autosomal dominant secondary Autosomal dominant striatal
247511 228169
Autosomal dominant optic atrophy erythrocytosis neurodegeneration
→1215
and congenital deafness Autosomal dominant secondary Autosomal dominant
247511
Autosomal dominant optic atrophy polycythemia 466806 thrombocytopenia with platelet
250932
and peripheral neuropathy Autosomal dominant Segawa secretion defect
98808
Autosomal dominant optic atrophy syndrome Autosomal dominant
1215 34149
plus syndrome Autosomal dominant severe tubulointerstitial kidney disease
486
Autosomal dominant optic atrophy congenital neutropenia Autosomal dominant
67036 3086
type 3 Autosomal dominant slowed nerve vitreoretinochoroidopathy
140481
Autosomal dominant optic atrophy, conduction velocity Autosomal erythropoietic
98673 79278
classic form Autosomal dominant spastic ataxia protoporphyria
251282
Autosomal dominant optic atrophy, type 1 Autosomal recessive Alport
98673 88919
Kjer type Autosomal dominant spastic ataxia syndrome
1182
Autosomal dominant osteopetrosis type 7 1027 Autosomal recessive amelia
2783
type 1 Autosomal dominant spastic Autosomal recessive anhidrotic
100984 248
Autosomal dominant osteosclerosis, paraplegia type 3 ectodermal dysplasia
1798
Stanescu type Autosomal dominant spastic Autosomal recessive anterior
100985 519388
Autosomal dominant osteosclerosis, paraplegia type 4 segment dysgenesis
2790
Worth type Autosomal dominant spastic 1116 Autosomal recessive aplasia cutis
100988
Autosomal dominant palmoplantar paraplegia type 6 Autosomal recessive ataxia due to
1010 hyperkeratosis and congenital 139485
Autosomal dominant spastic coenzyme Q10 deficiency
alopecia 100989
paraplegia type 8 Autosomal recessive ataxia due to
247815
Autosomal dominant palmoplantar Autosomal dominant spastic PEX10 deficiency
1010 keratoderma and congenital 447753
paraplegia type 9A Autosomal recessive ataxia due to
alopecia 139485
Autosomal dominant spastic ubiquinone deficiency
Autosomal dominant polycystic 447757
730 paraplegia type 9B Autosomal recessive ataxia, Beauce
kidney disease 88644
Autosomal dominant spastic type
Autosomal dominant polycystic 100991
paraplegia type 10 Autosomal recessive axonal
88924 kidney disease type 1 with tuberous Autosomal dominant spastic 521411 Charcot-Marie-Tooth disease due to
sclerosis 100993
paraplegia type 12 copper metabolism defect
Autosomal dominant polycystic liver Autosomal dominant spastic Autosomal recessive axonal
2924 100994
disease paraplegia type 13 101101 Charcot-Marie-Tooth disease type
Autosomal dominant popliteal Autosomal dominant spastic 2B2
1300 100998
pterygium syndrome paraplegia type 17 Autosomal recessive axonal
Autosomal dominant spastic 101097 Charcot-Marie-Tooth disease type
100999
paraplegia type 19 2K
ORPHA ORPHA ORPHA
Autosomal recessive axonal Autosomal recessive Charcot-Marie- Autosomal recessive cutis laxa type
495274 357074
Charcot-Marie-Tooth disease type 2T 466775 Tooth disease type 2 due to SPG11 2, Debré type
Autosomal recessive axonal mutation Autosomal recessive cutis laxa type
357064
90119 Charcot-Marie-Tooth disease with Autosomal recessive Charcot-Marie- 2, progeroid type
acrodystrophy 324442 Tooth disease type 2 with Autosomal recessive cutis laxa type
357058
Autosomal recessive axonal neuromyotonia 2A
98856
CMT4C1 Autosomal recessive Charcot-Marie- Autosomal recessive cutis laxa type
98856 357064
Autosomal recessive axonal Tooth disease type 2B1 2B
101102
CMT4C2 Autosomal recessive Charcot-Marie- Autosomal recessive cutis laxa with
228374 90349
Autosomal recessive axonal Tooth disease type 2B5 severe systemic involvement
101101
CMT4C3 Autosomal recessive Charcot-Marie- Autosomal recessive cutis laxa,
466775 90349
Autosomal recessive axonal Tooth disease type 2X pulmonary emphysema type
101097
CMT4C4 Autosomal recessive Charcot-Marie- Autosomal recessive deafness-
101097 79500
Autosomal recessive axonal Tooth disease with hoarseness onychodystrophy syndrome
324442
neuropathy with neuromyotonia Autosomal recessive Charcot-Marie- Autosomal recessive distal
90118 2776
Autosomal recessive Tooth disease, Ouvrier type osteolysis syndrome
139455
bestrophinopathy Autosomal recessive Charcot-Marie- Autosomal recessive distal renal
90119 402041
448242 Autosomal recessive brachyolmia Tooth type 2 with acrodystrophy tubular acidosis
Autosomal recessive carpotarsal 293603 Autosomal recessive CHED Autosomal recessive distal renal
→3460 →402041
osteolysis Autosomal recessive childhood- tubular acidosis with deafness
508093
Autosomal recessive centronuclear onset dystonia, DYT29 type Autosomal recessive distal renal
169186 →402041
myopathy Autosomal recessive tubular acidosis with hearing loss
Autosomal recessive cerebellar 2518 chorioretinopathy-microcephaly Autosomal recessive distal renal
453521 →402041
ataxia due to CWF19L1 deficiency syndrome tubular acidosis without deafness
Autosomal recessive cerebellar Autosomal recessive Autosomal recessive distal renal
352641 →402041
ataxia due to GBA2 deficiency 2518 chorioretinopathy-microcephaly- tubular acidosis without hearing loss
Autosomal recessive cerebellar intellectual disability syndrome 402041 Autosomal recessive distal RTA
412057
ataxia due to STUB1 deficiency Autosomal recessive complex Autosomal recessive distal RTA with
506353 spastic paraplegia due to Kennedy →402041
Autosomal recessive cerebellar deafness
88644 pathway dysfunction
ataxia type 1 Autosomal recessive distal spinal
Autosomal recessive complex SPG 98920
Autosomal recessive cerebellar muscular atrophy type 1
139485 506353
ataxia type 2 due to Kennedy pathway Autosomal recessive distal spinal
dysfunction 139552
352641 Autosomal recessive congenital
ataxia with late-onset spasticity Autosomal recessive distal spinal
363432 cerebellar ataxia due to GRID2 139547
404499 ataxia-epilepsy-intellectual disability deficiency Autosomal recessive distal spinal
Autosomal recessive congenital 206580
syndrome due to RUBCN deficiency muscular atrophy type 4
Autosomal recessive cerebellar cerebellar ataxia due to ionotropic Autosomal recessive distal spinal
363432
glutamate receptor delta-2 subunit 314485
404493 ataxia-epilepsy-intellectual disability muscular atrophy type 5
syndrome due to TUD deficiency deficiency
Autosomal recessive dopa-
Autosomal recessive congenital 101150
Autosomal recessive cerebellar responsive dystonia
284282 ataxia-epilepsy-intellectual disability cerebellar ataxia due to
324262 Autosomal recessive dystrophic
syndrome due to WWOX deficiency metabotropic glutamate receptor 1
79408 epidermolysis bullosa generalisata
Autosomal recessive cerebellar deficiency
284271 gravis
ataxia-psychomotor delay syndrome Autosomal recessive congenital
Autosomal recessive dystrophic
324262 cerebellar ataxia due to MGLUR1
Autosomal recessive cerebellar 89842 epidermolysis bullosa generalisata
363429 ataxia-pyramidal signs-nystagmus- deficiency
mitis
oculomotor apraxia syndrome Autosomal recessive congenital
293603 Autosomal recessive dystrophic
Autosomal recessive cerebellar hereditary endothelial dystrophy
89842 epidermolysis bullosa, generalized
95434 Autosomal recessive congenital
ataxia-saccadic intrusion syndrome 99951 other
Autosomal recessive hypomyelinating neuropathy
Autosomal recessive dystrophic
1170 cerebelloparenchymal disorder type Autosomal recessive cutis laxa type 79408 epidermolysis bullosa, Hallopeau-
90349
3 1 Siemens type
Autosomal recessive cerebral Autosomal recessive cutis laxa type Autosomal recessive Emery-Dreifuss
363969 221145
1C 98855
atrophy muscular dystrophy
Autosomal recessive cutis laxa type
357074
2, classic type
ORPHA ORPHA ORPHA
Autosomal recessive epidermolytic Autosomal recessive lethal Autosomal recessive limb-girdle
512103 363623
ichthyosis 1842 chondrodysplasia, round femoral muscular dystrophy type 2T
Autosomal recessive exfoliative inferior epiphysis type Autosomal recessive limb-girdle
289586 352479
ichthyosis Autosomal recessive lethal multiple muscular dystrophy type 2U
33108
Autosomal recessive pterygium syndrome Autosomal recessive limb-girdle
1974 466801
faciodigitogenital syndrome Autosomal recessive muscular dystrophy type 2W
Autosomal recessive leukoencephalopathy-ischemic Autosomal recessive limb-girdle
329329 314572 476084
frontotemporal pachygyria stroke-retinitis pigmentosa muscular dystrophy type 2X
Autosomal recessive hyper-IgE syndrome Autosomal recessive limb-girdle
331226 424261
syndrome due to TYK2 deficiency Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive 363543 muscular dystrophy due to desmin Autosomal recessive limb-girdle
deficiency 480682
79644 hyperinsulinemic hypoglycemia due muscular dystrophy type 2Z
to Kir6.2 deficiency Autosomal recessive limb-girdle Autosomal recessive limb-girdle
Autosomal recessive 352479 muscular dystrophy due to ISPD 476084 muscular dystrophy-cardiac
79643 hyperinsulinemic hypoglycemia due deficiency arrhythmia syndrome
to SUR1 deficiency Autosomal recessive limb-girdle Autosomal recessive lower motor
254361 muscular dystrophy due to plectin 206580
Autosomal recessive neuron disease with childhood onset
79644 hyperinsulinism due to Kir6.2 deficiency Autosomal recessive
Autosomal recessive limb-girdle 238505
deficiency 267 lymphoproliferative disease
Autosomal recessive muscular dystrophy type 2A Autosomal recessive malignant
Autosomal recessive limb-girdle 667
79643 hyperinsulinism due to SUR1 osteopetrosis
268
deficiency muscular dystrophy type 2B Autosomal recessive mendelian
Autosomal recessive hypohidrotic Autosomal recessive limb-girdle susceptibility to mycobacterial
248 353 477857
ectodermal dysplasia muscular dystrophy type 2C diseases due to complete
Autosomal recessive Autosomal recessive limb-girdle RORgamma receptor deficiency
62
527497 hypomyelinating leukodystrophy- muscular dystrophy type 2D Autosomal recessive mendelian
progressive spastic ataxia Autosomal recessive limb-girdle susceptibility to mycobacterial
119 319569
Autosomal recessive muscular dystrophy type 2E diseases due to partial IFNgammaR1
289176
hypophosphatemic rickets Autosomal recessive limb-girdle deficiency
219
Autosomal recessive infantile muscular dystrophy type 2F Autosomal recessive mendelian
300547
hypercalcemia Autosomal recessive limb-girdle susceptibility to mycobacterial
34514 319574
Autosomal recessive infantile muscular dystrophy type 2G diseases due to partial IFNgammaR2
93591
nephronophthisis Autosomal recessive limb-girdle deficiency
1878
93591 Autosomal recessive infantile NPHP muscular dystrophy type 2H Autosomal recessive mendelian
Autosomal recessive intellectual Autosomal recessive limb-girdle susceptibility to mycobacterial
352530 34515 319569
disability due to TRAPPC9 deficiency muscular dystrophy type 2I diseases due to partial interferon
Autosomal recessive intermediate Autosomal recessive limb-girdle gamma receptor 1 deficiency
217055 140922
Charcot-Marie-Tooth disease type A muscular dystrophy type 2J Autosomal recessive mendelian
Autosomal recessive intermediate Autosomal recessive limb-girdle susceptibility to mycobacterial
254334 86812 319574
Charcot-Marie-Tooth disease type B muscular dystrophy type 2K diseases due to partial interferon
Autosomal recessive intermediate Autosomal recessive limb-girdle gamma receptor 2 deficiency
369867 206549 Autosomal recessive metaphyseal
Charcot-Marie-Tooth disease type C muscular dystrophy type 2L 175
Autosomal recessive intermediate Autosomal recessive limb-girdle chondrodysplasia
435998 206554 Autosomal recessive
Charcot-Marie-Tooth disease type D muscular dystrophy type 2M 621
Autosomal recessive intermediate Autosomal recessive limb-girdle methemoglobinemia
210110 206559 Autosomal recessive MSMD due to
osteopetrosis muscular dystrophy type 2N
Autosomal recessive isolated Autosomal recessive limb-girdle 477857 complete RORgamma receptor
90636 206564 defiency
neurosensory deafness type DFNB muscular dystrophy type 2O
Autosomal recessive isolated optic Autosomal recessive limb-girdle Autosomal recessive MSMD due to
280333 319569
98676 partial IFNgammaR1 deficiency
atrophy muscular dystrophy type 2P
Autosomal recessive isolated Autosomal recessive limb-girdle Autosomal recessive MSMD due to
254361 319574
90636 partial IFNgammaR2 deficiency
sensorineural deafness type DFNB muscular dystrophy type 2Q
Autosomal recessive Kenny-Caffey Autosomal recessive limb-girdle Autosomal recessive MSMD due to
93324 363543 319569 partial interferon gamma receptor 1
syndrome muscular dystrophy type 2R
Autosomal recessive limb-girdle deficiency
369840
muscular dystrophy type 2S
ORPHA ORPHA ORPHA
Autosomal recessive MSMD due to Autosomal recessive primary Autosomal recessive spastic ataxia
98
319574 partial interferon gamma receptor 2 immunodeficiency with defective type 6
437552
deficiency spontaneous natural killer cell Autosomal recessive spastic ataxia
314603
Autosomal recessive multiple cytotoxicity with leukoencephalopathy
93307
epiphyseal dysplasia Autosomal recessive primary Autosomal recessive spastic ataxia-
254343
Autosomal recessive multiple 437552 immunodeficiency with defective optic atrophy-dysarthria syndrome
2990
pterygium syndrome spontaneous NK cell cytotoxicity Autosomal recessive spastic
100986
Autosomal recessive muscular Autosomal recessive primary paraplegia type 5A
424261 2512
dystrophy due to LAP1B deficiency microcephaly Autosomal recessive spastic
447760
Autosomal recessive muscular Autosomal recessive progressive paraplegia type 9B
254886
424261 dystrophy due to Torsin-1A- external ophthalmoplegia Autosomal recessive spastic
2822
interacting protein 1 deficiency Autosomal recessive proximal renal paraplegia type 11
93607
319332 Autosomal recessive myogenic AMC tubular acidosis Autosomal recessive spastic
100995
Autosomal recessive myogenic Autosomal recessive paraplegia type 14
319332 171876
arthrogryposis multiplex congenita pseudohypoaldosteronism type 1 Autosomal recessive spastic
100996
280654 Autosomal recessive nail dysplasia Autosomal recessive Robinow paraplegia type 15
1507
Autosomal recessive non-lethal syndrome Autosomal recessive spastic
2990 209951
multiple pterygium syndrome Autosomal recessive secondary paraplegia type 18
Autosomal recessive non-syndromic 247378 erythrocytosis not associated with Autosomal recessive spastic
88616 VHL gene 101000
intellectual disability paraplegia type 20
Autosomal recessive non-syndromic Autosomal recessive secondary Autosomal recessive spastic
90636 247378 101001
neurosensory deafness type DFNB erythrocytosis, non-Chuvash type paraplegia type 21
Autosomal recessive non-syndromic Autosomal recessive secondary Autosomal recessive spastic
98676 247378 polycythemia not associated with 101003
optic atrophy paraplegia type 23
Autosomal recessive non-syndromic VHL gene Autosomal recessive spastic
90636 Autosomal recessive secondary 101004
sensorineural deafness type DFNB 247378 paraplegia type 24
93329 Autosomal recessive omodysplasia polycythemia, non-Chuvash type Autosomal recessive spastic
Autosomal recessive Segawa 101005
Autosomal recessive optic atrophy 101150 paraplegia type 25
67047 syndrome
plus syndrome Autosomal recessive spastic
Autosomal recessive sensory 101006
Autosomal recessive optic atrophy 970 paraplegia type 26
67047 radicular neuropathy
type 3 Autosomal recessive spastic
101007
Autosomal recessive optic atrophy, Autosomal recessive sepiapterin paraplegia type 27
227976 70594
OPA7 type reductase-deficient DRD Autosomal recessive spastic
Autosomal recessive severe 101008
Autosomal recessive osteoclast- paraplegia type 28
178389 poor osteopetrosis with 420702 congenital neutropenia due to CSF3R Autosomal recessive spastic
deficiency 171622
hypogammaglobulinemia paraplegia type 32
Autosomal recessive osteopetrosis Autosomal recessive severe Autosomal recessive spastic
178389 420699 congenital neutropenia due to 171629
type 7 paraplegia type 35
Autosomal recessive palmoplantar CXCR2 deficiency Autosomal recessive spastic
Autosomal recessive severe 139480
1366 hyperkeratosis and congenital paraplegia type 39
alopecia 331176 congenital neutropenia due to Autosomal recessive spastic
G6PC3 deficiency 320370
Autosomal recessive palmoplantar paraplegia type 43
1366 keratoderma and congenital Autosomal recessive severe Autosomal recessive spastic
423384 congenital neutropenia due to 320401
alopecia paraplegia type 44
Autosomal recessive polycystic JAGN1 deficiency
731 Autosomal recessive spastic
Autosomal recessive sideroblastic 320396
kidney disease 260305 paraplegia type 45
Autosomal recessive popliteal anemia
1234 Autosomal recessive spastic
Autosomal recessive spastic ataxia 320391
pterygium syndrome 98 paraplegia type 46
Autosomal recessive posterior of Charlevoix-Saguenay
Autosomal recessive spastic
88628 column ataxia and retinitis 314603 paraplegia type 48
pigmentosa type 3
Autosomal recessive primary 254343 paraplegia type 49
477857 immunodeficiency due to RORC type 4
mutation 313772 paraplegia type 53
type 5
320380
paraplegia type 54
ORPHA ORPHA ORPHA
Autosomal recessive spastic Autosomal recessive 96 AVED
320375 284324
paraplegia type 55 spinocerebellar ataxia type 7 98963 Avellino corneal dystrophy
Autosomal recessive spastic Autosomal recessive 454836 Avian influenza
320411 139485
paraplegia type 56 spinocerebellar ataxia type 9 99000 AVMD
Autosomal recessive spastic Autosomal recessive 58 AxD
431329 284289
paraplegia type 57 spinocerebellar ataxia type 10 363717 AxD type I
Autosomal recessive spastic Autosomal recessive 363722 AxD type II
401795 284271
paraplegia type 59 spinocerebellar ataxia type 11 98978 Axenfeld anomaly
Autosomal recessive spastic Autosomal recessive 782 Axenfeld syndrome
401800 284282
paraplegia type 60 spinocerebellar ataxia type 12
782 Axenfeld-Rieger syndrome
Autosomal recessive spastic Autosomal recessive
401780 324262 Axial mesodermal dysplasia
paraplegia type 61 spinocerebellar ataxia type 13 1834
spectrum
401785 352403 2777 Axial osteosclerosis
Axial spondylometaphyseal
Autosomal recessive spastic Autosomal recessive 168549
401805 404499 dysplasia
401911 AXIN2-related AFAP
401810 397709 AXIN2-related attenuated familial
adenomatous polyposis
320396 466794 AXIN2-related attenuated familial
polyposis coli
401815 401911 AXIN2-related attenuated FAP
paraplegia type 66 95433 spinocerebellar ataxia-blindness-
Autosomal recessive spastic deafness syndrome Axonal Charcot-Marie-Tooth disease
101102
401820 with pyramidal involvement
paraplegia type 67 Autosomal recessive
Autosomal recessive spastic 95433 spinocerebellar ataxia-blindness- Axonal neuropathy-optic atrophy-
457205
320406 cognitive deficit syndrome
paraplegia type 68 hearing loss syndrome
Autosomal recessive spastic Autosomal recessive spondylocostal Axonal polyneuropathy associated
→320406 2311 209004 with IgG/IgM/IgA monoclonal
paraplegia type 68 dysostosis
Autosomal recessive gammopathy
401830 1435 Ayazi syndrome
paraplegia type 69 401979 spondylometaphyseal dysplasia,
Mégarbané type 1272 Aymé-Gripp syndrome
401835 284454 AZOOR
paraplegia type 70 Autosomal recessive Stickler
250984
Autosomal recessive spastic syndrome Azoospermia due to maturation
401840 →399805
paraplegia type 71 Autosomal recessive thrombophilia arrest
Autosomal recessive spastic 745 due to congenital protein C →399805 Azoospermia due to meiosis defect
468661 deficiency Azoospermia-sinopulmonary
paraplegia type 74 3471
Autosomal recessive spastic Autosomal recessive thrombophilia infections syndrome
459056 743 due to congenital protein S Azorean disease of the nervous
paraplegia type 75 98757
Autosomal recessive spastic deficiency system
488594
paraplegia type 76 Autosomal recessive thrombophilia Azygos continuation of the inferior
745 99121
Autosomal recessive spastic due to PC deficiency caval vein
466722 Autosomal semi-dominant severe Azygos continuation of the inferior
paraplegia type 77 280365 99121
Autosomal recessive spastic lipodystrophic laminopathy vena cava
513436 300345 Autosomal SLE 99121 Azygos continuation of the IVC
paraplegia type 78
Autosomal recessive spastic 397946 Autosomal spastic ataxia type 2 79332 B4GALT1-CDG
101005
paraplegia-disc herniation syndrome Autosomal spastic paraplegia type 75496 B4GALT7-CDG
101010
Autosomal recessive spinal 30 99860 B-ALL
98920 muscular atrophy with respiratory Autosomal spastic paraplegia type 67038 B-cell chronic lymphocytic leukemia
397946
distress 58 67038 B-cell chronic lymphoid leukemia
Autosomal recessive Autosomal spastic paraplegia type B-cell expansion with NF-kB and T-
1170 401849 464336
spinocerebellar ataxia type 2 72 cell anergy disease
Autosomal recessive Autosomal systemic lupus 86852 B-cell prolymphocytic leukemia
95433 300345
spinocerebellar ataxia type 3 erythematosus 67038 B-CLL
Autosomal recessive Autosomal thrombocytopenia with 404560 B-K mole syndrome
284332 168629
spinocerebellar ataxia type 6 normal platelets 86852 B-PLL
352490 AUTS2 syndrome 108 Babesiosis
ORPHA ORPHA ORPHA
206994 Bacterial myositis 112 Bartter syndrome Beckwith-Wiedemann syndrome
96076
36234 Bacterial toxic-shock syndrome 93605 Bartter syndrome type 3 due to 11p15 microduplication
36234 Bacterial TSS 89938 Bartter syndrome type 4 Beckwith-Wiedemann syndrome
69736 BADI 263417 Bartter syndrome type 5 231130 due to 11p15
86814 BAFME 93605 Bartter syndrome type III translocation/inversion
2819 Bahemuka-Brown syndrome 89938 Bartter syndrome type IV Beckwith-Wiedemann syndrome
231120
352577 Bainbridge-Roppers syndrome 263417 Bartter syndrome type V due to CDKN1C mutation
1658 Baird syndrome Bartter syndrome with Beckwith-Wiedemann syndrome
231117
263417 due to imprinting defect of 11p15
139471 Bakrania-Ragge syndrome hypocalcemia
93604 Bartter syndrome, furosemide type Beckwith-Wiedemann syndrome
1223 Balantidiasis 238613
due to NSD1 mutation
1223 Balantidiosis Bartter syndrome, furosemide-
93604 Beckwith-Wiedemann syndrome
139450 Balikova-Vermeesch syndrome amiloride type
96193 due to paternal uniparental disomy
363746 Balint syndrome 494451 Basal cell carcinoma of vulva
of chromosome 11
363746 Balint-Holmes syndrome 377 Basal cell nevus syndrome
1945 BECRS
93395 Ballard syndrome 268829 Basal encephalocele
1945 BECTS
1225 Baller-Gerold syndrome →1658 Basan syndrome
2572 Bedouin spastic ataxia syndrome
66529 Ballooning cardiomyopathy 79301 BASD1
322 BEEC
228165 Baló concentric sclerosis 79303 BASD2
1237 Beemer-Ertbruggen syndrome
634 Bamboo hair syndrome 79302 BASD3
Behavioral variant of
1226 Bamforth syndrome 79095 BASD4 275864
frontotemporal dementia
1226 Bamforth-Lazarus syndrome 50810 Basel-Vanagaite-Sirota syndrome 2705 Behrens-Baumann-Vogel syndrome
Band-shaped and whorled 244283 BASM syndrome 117 Behçet disease
98955 microcystic dystrophy of the corneal 14 Bassen-Kornzweig disease 476102 Behçet-like disease due to HA20
epithelium 1875 Bassoe syndrome Behçet-like disease due to
1227 Bangstad syndrome 100976 Bathing suit ichthyosis 476102
haploinsufficiency of A20
130 Bangungut 1948 Battaglia-Neri syndrome 247203 Bellini carcinoma
1228 Banki syndrome 79264 Batten disease 247203 Bellini duct carcinoma
Bannayan-Riley-Ruvalcaba 1401 Baughman syndrome 1240 Bellini syndrome
109
syndrome 166113 Bazex syndrome 100978 Benallegue-Lacete syndrome
139507 Bantu siderosis 113 Bazex-Dupré-Christol syndrome 1241 Bencze syndrome
BAP1-related tumor predisposition 65284 BBGD Benign adult familial myoclonic
289539
syndrome 363444 BBIS 86814
epilepsy
1229 Baraitser-Brett-Piesowicz syndrome 110 BBS Benign adult familial myoclonus
2753 Baraitser-Burn syndrome 86814
401777 BBSOAS epilepsy
1229 Baraitser-Reardon syndrome 41751 BCD Benign autosomal dominant
610
Baraitser-Winter 1997 BCD syndrome myopathy
2995
cerebrofrontofacial syndrome 312 BCIE 157997 Benign cephalic histiocytosis
2237 Barakat syndrome 511 Benign childhood occipital epilepsy,
BCKD deficiency
1231 98816
Barber-Say syndrome 511 BCKDH deficiency Gastaut type
110 Bardet-Biedl syndrome 247203 BDC Benign childhood occipital epilepsy,
98815
34592 Bare lymphocyte syndrome type 1 113 Panayiotopoulos type
BDCS
572 Bare lymphocyte syndrome type 2 115 Beals syndrome Benign chronic familial pemphigus
2841
3317 Barnes syndrome 115 Beals-Hecht syndrome of Hailey-Hailey
443084 Baroreflex failure 1059 Bean syndrome Benign concentric annular macular
251287
79087 Barraquer-Simons syndrome Beare-Stevenson cutis gyrata dystrophy
2698 Bart-Pumphrey syndrome 1555 Benign congenital sixth cranial
syndrome 440233
111 Barth syndrome 363444 Beaulieu-Boycott-Innes syndrome nerve palsy
Bartonellosis due to Bartonella 254864 Benign COX deficiency
64692 98895 Becker dystrophinopathy
bacilliformis infection 98895 Becker muscular dystrophy Benign epilepsy of childhood with
1945
Bartonellosis due to Bartonella centrotemporal spikes
50839 64755 Becker nevus syndrome
henselae infection Benign epithelial tumor of salivary
116 Beckwith-Wiedemann syndrome 276148
Bartonellosis due to Bartonella glands
64694 Beckwith-Wiedemann syndrome
quintana infection 231127 1429 Benign familial chorea
due to 11p15 microdeletion
1234 Bartsocas-Papas syndrome
ORPHA ORPHA ORPHA
Benign familial epilepsy of Benign recurrent intrahepatic 140927 BFNIS
1945 99961
childhood with rolandic spikes cholestasis type 2 1949 BFNS
306 Benign familial infantile convulsions 342 Benign recurrent polyserositis 293284 BH4-responsive HPA/PKU
306 Benign familial infantile epilepsy 1945 Benign rolandic epilepsy BH4-responsive
306 Benign familial infantile seizures Benign Samaritan congenital 293284 hyperphenylalaninemia/phenylketo
324581
Benign familial mesial temporal myopathy nuria
163717
lobe epilepsy 252164 Benign schwannoma 1429 BHC
Benign familial neonatal 180237 Benign tumor of fallopian tubes 93311 BHMED
1949
convulsions 2198 Bennion-Patterson syndrome 98964 Biber-Haab-Dimmer dystrophy
1949 Benign familial neonatal epilepsy 54247 Benson syndrome BICD2-related autosomal dominant
1949 Benign familial neonatal seizures 464336 BENTA disease 363454 childhood-onset proximal spinal
Benign familial neonatal-infantile 528 Beradinelli-Seip syndrome muscular atrophy
140927
seizures 171839 Berant syndrome BICD2-related lower extremity-
163717 Benign FMTLE Berardinelli-Seip congenital predominant autosomal dominant
528 363454
65684 Benign focal amyotrophy lipodystrophy proximal spinal muscular atrophy
1544 Benign focal seizures of adolescence 2241 Berdon syndrome with contractures
1429 Benign hereditary chorea 180086 Bicervical bicornuate uterus
647 Berlin breakage syndrome
254704 Benign hyperferritinemia 1816 Berlin syndrome Bicervical bicornuate uterus and
180106
64545 Benign idiopathic neonatal seizures blind hemivagina
274 Bernard-Soulier syndrome
Benign infantile focal epilepsy with Bicervical bicornuate uterus with
178528 Berti lymphoma 180111
166308 midline spikes and waves during patent cervix and vagina
133 Berylliosis
sleep 2088 Bickel-Fanconi glycogenosis
797 Besnier-Boeck-Schaumann disease
Benign infantile seizures associated 2182 Bickers-Adams syndrome
166305 321 Bessel-Hagen disease
with mild gastroenteritis 79138 Bickerstaff brainstem encephalitis
1243 Best disease
238624 Benign intracranial hypertension Bidirectional tachycardia induced by
1243 Best macular dystrophy 3286
Benign joint hypermobility catecholamine
285 1243 Best vitelliform macular dystrophy
syndrome →33364 BIDS syndrome
Beta-1,4-galactosyltransferase 1246 Biemond syndrome
464359 Benign metanephric tumour 79332
deficiency
Benign multicystic peritoneal 141333 Biemond syndrome type 2
168816 65287 Beta-alanine synthase deficiency
mesothelioma Bietti crystalline corneoretinal
309310 Beta-D-galactosidase deficiency 41751
Benign myoclonic epilepsy of dystrophy
86909 354 Beta-galactosidase-1 deficiency
infancy 41751 Bietti crystalline dystrophy
584 Beta-glucuronidase deficiency
Benign myoclonus epilepsy of 41751 Bietti crystalline retinopathy
86909 134 Beta-ketothiolase deficiency
infancy Bifid femur-monodactylous
118 Beta-mannosidase deficiency 1986
140927 Benign neonatal-infantile epilepsy ectrodactyly syndrome
118 Beta-mannosidosis 2695 Bifid nose
Benign nocturnal alternating
209973 Beta-mercaptolactate cysteine
hemiplegia of childhood 1035 Bifid nose with or without anorectal
disulfiduria 217266
Benign nonfamilial neonatal and renal anomalies
64545 Beta-propeller protein-associated
seizures 329284 99771 Bifid uvula
25968 Benign occipital epilepsy neurodegeneration 99771 Bifidity of the uvula
342 Benign paroxysmal peritonitis
119 Beta-sarcoglycanopathy 300 Bifunctional enzyme deficiency
848 Beta-thalassemia
Benign paroxysmal tonic upgaze of 637 Bilateral acoustic neurofibromatosis
1179 231222 Beta-thalassemia intermedia
childhood with ataxia Bilateral acute depigmentation of
231214 Beta-thalassemia major 69736
Benign paroxysmal torticollis of the iris
71518 Beta-thalassemia-
infancy →33364 319205 Bilateral adrenal hemorrhage
Benign partial epilepsy of infancy trichothiodystrophy syndrome 325124 Bilateral anorchia
166299 Beta-thalassemia-X-linked
with complex partial seizures 231393 Bilateral anterior opercular
thrombocytopenia syndrome 2048
Benign partial epilepsy with syndrome
166302 secondarily generalized seizures in 65287 Beta-ureidopropionase deficiency Bilateral band-like calcification with
infancy 610 Bethlem myopathy 1229
polymicrogyria
Benign recurrent intrahepatic 2114 Beukes familial hip dysplasia 208444
65682 Bilateral frontal polymicrogyria
cholestasis 2114 BFHD Bilateral frontoparietal
Benign recurrent intrahepatic 306 101070
BFIE polymicrogyria
99960
cholestasis type 1 306 BFIS 208447 Bilateral generalized polymicrogyria
127 BFLS
ORPHA ORPHA ORPHA
Bilateral hereditary micro- Biotin-responsive basal ganglia →2353 Blepharofacioskeletal syndrome
93311 65284
epiphyseal dysplasia disease Blepharonasofacial malformation
1252
Bilateral hip and radial head Biotin-thiamine-responsive basal syndrome
65284
dislocations-short stature-scoliosis- ganglia disease Blepharophimosis syndrome, Ohdo
438117 2728
carpal coalitions-pes cavus-facial 79241 Biotinidase deficiency type
dysmorphism syndrome 54247 Biparietal Alzheimer disease 126 Blepharophimosis types 1 and 2
Bilateral massive adrenal 364198 Bipartite talus Blepharophimosis types 1 and 2 due
319205 261572
hemorrhage 99908 Bird fancier lung to a point mutation
97364 Bilateral MCDK Blepharophimosis types 1 and 2 due
Bird-headed dwarfism, Montreal 261579
Bilateral microtia-deafness-cleft 2617
140963 type to copy number variations
palate syndrome 179 Birdshot chorioretinitis Blepharophimosis-epicanthus
Bilateral multicystic dysplastic 179 Birdshot chorioretinopathy 261559 inversus-ptosis due to 3q23
97364
kidney 179 Birdshot retinochoroiditis rearrangement syndrome
97364 Bilateral multicystic renal dysplasia 179 Birdshot retinochoroidopathy Blepharophimosis-epicanthus
261579
Bilateral parasagittal parieto- 122 Birt-Hogg-Dubé syndrome inversus-ptosis due to a CNV
208441
occipital polymicrogyria Blepharophimosis-epicanthus
79133 Bitemporal aplasia cutis congenita
98889 Bilateral perisylvian polymicrogyria 261572 inversus-ptosis due to a point
2213 Bixler-Christian-Gorlin syndrome
268940 Bilateral polymicrogyria mutation syndrome
285 BJHS
Bilateral striopallidodentate Blepharophimosis-epicanthus
1980 123 Björnstad syndrome
calcinosis 261579 inversus-ptosis due to copy number
124 Blackfan-Diamond anemia variations
Bilateral symmetrical thalamic
1314 93930 Bladder exstrophy
gliosis Blepharophimosis-epicanthus
Bladder exstrophy-epispadias- 126
Bile acid CoA ligase deficiency and 322 inversus-ptosis syndrome
276066 cloacal extrophy complex
defective amidation Blepharophimosis-intellectual
37202 Bladder pain syndrome →2707 disability syndrome due to UBE3B
70567 Bile duct cancer
98922 Blake pouch cyst deficiency
1276 Bilginturan brachydactyly
254379 Blaschkoid lichen planus Blepharophimosis-intellectual
1276 Bilginturan syndrome 293725
1247 Bilharziasis
254379 Blaschkoid LP disability syndrome type V
86870 Blastic NK-cell lymphoma Blepharophimosis-intellectual
Biliary atresia with splenic
244283 Blastic plasmacytoid dendritic cell 293707 disability syndrome, Maat-Kievit-
malformation syndrome 86870
neoplasm Brunner type
424982 Biliary cystadenocarcinoma
1834 Blastogenesis defect Blepharophimosis-intellectual
386 Biliary hamartoma 293707
90340 Blau syndrome disability syndrome, MKB type
Biliary tract malformation-renal
→2697 50945 BLC Blepharophimosis-intellectual
failure syndrome 2728
1229 BLC-PMG disability syndrome, Ohdo type
98836 Bilineal acute leukemia
Bleeding diathesis due to a collagen Blepharophimosis-intellectual
Bilirubin uridinediphosphate 73271 3047
205 receptor defect disability syndrome, SBBYS type
glucuronosyltransferase deficiency
Bleeding diathesis due to Blepharophimosis-intellectual
Bilirubin uridinediphosphate 98885 293725
glycoprotein VI deficiency disability syndrome, Verloes type
79234 glucuronosyltransferase deficiency
Bleeding diathesis due to integrin Blepharophimosis-ptosis-esotropia-
type 1 98886 2057
alpha2-beta1 deficiency syndactyly-short stature syndrome
Bilirubin uridinediphosphate
Bleeding diathesis due to Blepharophimosis-telecanthus-
79235 glucuronosyltransferase deficiency 220443 1968
thromboxane synthesis deficiency microstomia syndrome
type 2
Bleeding disorder due to ADP Blepharoptosis-myopia-ectopia
Bilirubin-induced neurological 36355 1259
529808 platelet receptor P2Y12 defect lentis syndrome
dysfunction
Bleeding disorder due to calcium- Blepharospasm-oromandibular
205 Bilirubin-UGT deficiency 93964
420566 and DAG-regulated guanine dystonia syndrome
79234 Bilirubin-UGT deficiency type 1
exchange factor-1 deficiency Blindness-scoliosis-arachnodactyly
79235 Bilirubin-UGT deficiency type 2 171844
Bleeding disorder due to CalDAG- syndrome
1799 Billard-Toutain-Maheut syndrome 420566
GEFI deficiency 464 Bloch-Siemens syndrome
166308 BIMSE 464 Bloch-Sulzberger syndrome
Bleeding disorder due to P2Y12
529808 BIND 36355
defect 50945 Blomstrand chondrodysplasia
1248 Binder syndrome
1997 Blepharo-cheilo-odontic syndrome 50945 Blomstrand lethal chondrodysplasia
3304 Bindewald-Ulmer-Müller syndrome 50945 Blomstrand osteochondrodysplasia
Blepharochalasis-double lip
64545 BINS 1253
syndrome 125 Bloom syndrome
1997 Blepharocheilodontic syndrome 2768 Blount disease
ORPHA ORPHA ORPHA
88629 Blue colour blindness Borjeson-Forssman-Lehmann Brachydactyly-arterial hypertension
127 1276
16 Blue cone monochromacy syndrome syndrome
16 Blue cone monochromatism 1264 Bork syndrome Brachydactyly-elbow wrist dysplasia
1275
94086 Blue diaper syndrome 90001 Bornholm eye disease syndrome
1059 Blue rubber bleb nevus 36273 Borrmann gastric cancer type 4 Brachydactyly-intellectual disability
1001
98989 Blue-dot cataract 97297 BOS syndrome syndrome
319205 BMAH Bosch-Boonstra-Schaaf optic Brachydactyly-joint dysplasia
401777 1275
1243 BMD atrophy syndrome syndrome
98895 BMD 69737 Bosley-Salih-Alorainy syndrome Brachydactyly-long thumb
2946
Bosma arhinia-microphthalmia syndrome
293725 BMRS type V 2250
syndrome Brachydactyly-mesomelia-
293707 BMRS, Maat-Kievit-Brunner type
1277 intellectual disability-heart defects
293707 BMRS, MKB type Bosma-Henkin-Christiansen
2250 syndrome
2728 BMRS, Ohdo type syndrome
85128 Bothnia retinal dystrophy Brachydactyly-nystagmus-cerebellar
293725 BMRS, Verloes type 1246
128 Bothriocephalosis ataxia syndrome
353253 BMS Brachydactyly-preaxial hallux varus
217266 BNAR syndrome
1267 Botulism 1278
syndrome
1180 Boucher-Neuhäuser syndrome
50945 BOCD Brachydactyly-scoliosis-carpal
805 Bourneville syndrome 2956
217008 Bockenheimer syndrome fusion syndrome
1292 BOD syndrome
83313 Boutonneuse fever
Brachydactyly-short stature-
→912 Bowen syndrome 391646
2724 Boder syndrome microcephaly syndrome
1270 Bowen syndrome, Hutterite type
48686 Body cavity-based lymphoma Brachydactyly-short stature-retinitis
1270 Bowen-Conradi syndrome 166035
Body skin hyperlaxity due to pigmentosa syndrome
91135 vitamin K-dependent coagulation 97353 Boxer's dementia Brachydactyly-symphalangism
50814 Boyadjiev-Jabs syndrome 3168
factor deficiency syndrome
797 Boeck sarcoid 329284 BPAN 93409 Brachydactyly-syndactyly, Zhao type
797 Boeck's sarcoid 70589 BPD 93394 Brachymesophalangy II and V
1297 BOFS 86870 BPDCN Brachymorphism-onychodysplasia-
1292
97297 Bohring syndrome 2901 Brachial plexus neuritis dysphalangism syndrome
97297 Bohring-Opitz syndrome 199 Brachmann-de Lange syndrome →448242 Brachyolmia type 1, Hobaek type
84081 Boichis disease 1519 Brachycephalofrontonasal dysplasia →448242 Brachyolmia type 1, Toledo type
401874 BOLA3 deficiency Brachycephaly-deafness-cataract- 93302 Brachyolmia type 2
1272
319229 Bolivian hemorrhagic fever intellectual disability syndrome 93304 Brachyolmia type 3
Bone dysplasia, lethal Holmgren Brachydactylous dwarfism, Mseleni 448242 Brachyolmia, Hobaek/Toledo type
1842 2619
type type 93302 Brachyolmia, Maroteaux type
Bone dysplasia-medullary 93388 Brachydactyly type A1 Brachyolmia-amelogenesis
85182 93396 Brachydactyly type A2 2899
fibrosarcoma syndrome imperfecta syndrome
Bone fragility-contractures-arterial 93394 Brachydactyly type A4 Brachytelephalangic
300284 79345
rupture-deafness syndrome 93389 Brachydactyly type A5 chondrodysplasia punctata
Bone fragility-craniosynostosis- 93382 Brachydactyly type A6 Brachytelephalangy-dysmorphism-
2050 1295
proptosis-hydrocephalus syndrome 93397 Brachydactyly type A7 Kallmann syndrome
2934 Bonneau syndrome 93383 Brachydactyly type B 441 Bradbury-Eggleston syndrome
163 Bonneau-Beaumont syndrome 140908 Brachydactyly type B2 52047 Braddock syndrome
2941 Bonnemann-Meinecke syndrome 93384 Brachydactyly type C 3323 Braddock-Carey syndrome
Bonnemann-Meinecke-Reich 93387 Brachydactyly type E Braddock-Jones-Superneau
1261 1538
syndrome Brachydactyly type E, with short syndrome
1276
53719 Bonnet-Dechaume-Blanc syndrome stature and hypertension 75374 Bradyopsia
1262 Böök syndrome Brachydactyly, combined B and E 178506 Brain calcification, Rajab type
93395
1263 Boomerang dysplasia types Brain demyelination due to
1302 BOOP 93388 Brachydactyly, Farabee type 168598 methionine adenosyltransferase
1933 Booth-Haworth-Dilling syndrome 2946 Brachydactyly, long thumb type deficiency
107 BOR syndrome 93396 Brachydactyly, Mohr-Wriedt type Brain dopamine-serotonin vesicular
352649
206473 Borderline epithelial tumor of ovary 93397 Brachydactyly, Smorgasbord type transport disease
206473 Borderline ovarian epithelial tumor 93394 Brachydactyly, Temtamy type Brain malformation-congenital
75389 heart disease-postaxial polydactyly
syndrome
ORPHA ORPHA ORPHA
Brain malformations- 1116 Bronspiegel-Zelnick syndrome 99001 Butterfly-shaped pigment dystrophy
musculoskeletal abnormalities-facial 99829 Bronze John Butterfly-shaped pigmentary
500150 99001
dysmorphism-intellectual disability 79493 Brooke-Spiegler syndrome macular dystrophy
syndrome 97229 Brown-Vialetto-van Laere syndrome 1307 Buttiens-Fryns syndrome
Brain stem asymmetry-superior 109 BRRS 132 Butyrylcholinesterase deficiency
467166 cerebellar and basal ganglia 275864
2353 BRSS bv-FTD
dysplasia syndrome 1243 BVMD
1304 Brucellosis
209905 Brain-lung-thyroid syndrome 116 BWS
2771 Bruck syndrome
99084 Branch pulmonary artery stenosis
130 Brugada syndrome 79306 Byler disease
Branched chain alpha-ketoacid 459353 C1 inhibitor deficiency
255182 3057 Brunner syndrome
dehydrogenase complex deficiency
1305 Brunner-Winter syndrome 280133 C3 deficiency
Branched-chain 2-ketoacid
511 391641 Brunner-Winter syndrome type 1 C3 deposition glomerulonephritis
dehydrogenase deficiency →329931
391646 Brunner-Winter syndrome type 2 without proliferation
511 Branched-chain ketoaciduria
528 Brunzell syndrome 329931 C3 glomerulonephritis
Branchial dysplasia-intellectual
1296 →528 Brunzell syndrome 329918 C3 glomerulopathy
disability-inguinal hernia syndrome
47 Bruton type agammaglobulinemia C9ORF72-related Huntington
1297 Branchio-oculo-facial syndrome 401901
528 BSCL disease phenocopy
50815 Branchiogenic deafness syndrome
79304 BSEP deficiency C9ORF72-related Huntington
52429 Branchiootic syndrome 401901
1299 BSG syndrome disease-like syndrome
107 Branchiootorenal syndrome
100976 BSI
1308 C syndrome
1299 Branchioskeletogenital syndrome 231242 C-beta-thalassemia
79133 Brauer syndrome 1980 BSPDC
97297 C-like syndrome
2669 Braun-Bayer syndrome 125 BSyn
65284 BTBGD C11ORF73-related autosomal
319239 Brazilian hemorrhagic fever 495844 recessive hypomyelinating
1059 BRBN 79241 BTD deficiency
leukodystrophy
1945 BRE 111 BTHS
C11ORF73-related autosomal
85284 BRESEK syndrome 47 BTK-deficiency 495844 recessive hypomyelinating
85284 BRESHECK syndrome 2314 Buckley syndrome leukoencephalopathy
65682 BRIC 131 Budd-Chiari syndrome 401948 CA-VA deficiency
99960 BRIC1 36258 Buerger disease 85293 Cabezas syndrome
99961 BRIC2 2285 Bull-Nixon syndrome 504476 CABV syndrome
99960 BRIC type 1 Bullous congenital ichthyosiform 1309 Cacchi-Ricci disease
312
99961 BRIC type 2 erythroderma 75377 CACD
99990 Brill disease Bullous congenital ichthyosiform 135 CACH syndrome
312
erythroderma of Brock
99990 Brill-Zinsser disease 2848 CACP syndrome
280785 Bullous DCM
666 Brittle bone disease 159 CACT deficiency
Bullous diffuse cutaneous
90354 Brittle cornea syndrome 280785 56425 CAD
mastocytosis
→33364 Brittle hair syndrome, Sabinas type 448010 CAD-CDG
312 Bullous ichthyosis
Brittle hair-mental deficiency 136 CADASIL
→33364 36237 Bullous impetigo
syndrome 369942 CADDS
33408 Bullous lichen planus
783 Broad thumb-hallux syndrome 2566 CAEBV syndrome
703 Bullous pemphigoid
783 Broad thumbs-halluces syndrome 1310 Caffey disease
→193 Buntinx-Lormans-Martin syndrome
412 Broad-betalipoproteinemia 436174 CAGSSS
98976 Buphthalmia
53347 Brody myopathy CAH due to 3-beta-hydroxysteroid
98976 Buphthalmos 90791
66529 Broken heart syndrome dehydrogenase deficiency
98976 Buphthalmus
97287 Bronchial NET CAH due to 11-beta-hydroxylase
543 Burkitt lymphoma 90795
97287 Bronchial neuroendocrine tumor deficiency
1200 Burn-McKeown syndrome
Bronchiectasis-oligospermia CAH due to 17-alpha-hydroxylase
→3471 353253 Burning mouth syndrome 90793
syndrome deficiency
Bronchiolitis obliterans organizing
800 Burton skeletal dysplasia 1375 CAHMR syndrome
1302 800 Burton syndrome
pneumonia 435988 CAID syndrome
Bronchiolitis obliterans with 352763 Buschke scleredema 99429 CAIS
1303 79501 Buschke-Fischer-Brauer syndrome
obstructive pulmonary disease 289601 Calcification of joints and arteries
2357 Bronchogenic cyst 1306 Buschke-Ollendorff syndrome Calcified epithelial carcinoma of
99001 Butterfly-shaped pattern dystrophy 499182
70589 Bronchopulmonary dysplasia Malherbe
ORPHA ORPHA ORPHA
199260 Calcifying aponeurotic fibroma 289385 Cancer diagnosed during pregnancy Carbohydrate deficient glycoprotein
79326
499182 Calcifying epitheliocarcinoma 180242 Cancer of fallopian tubes syndrome type Ii
Calcinosis-Raynaud phenomenon- 71505 Cancer-associated retinopathy Carbohydrate deficient glycoprotein
esophageal involvement- 2700 Cancrum oris 397941 syndrome type II due to MAN1B1
90290
sclerodactyly-telangiectasia 325004 CANDLE syndrome deficiency
syndrome 71279 CANOMAD syndrome Carbohydrate deficient glycoprotein
79329
280062 Calciphylaxis Cantalamessa-Baldini-Ambrosi syndrome type IIa
280065 Calciphylaxis cutis 2233 Carbohydrate deficient glycoprotein
syndrome 79330
Calcium pyrophosphate dihydrate 1335 Cantrell deformity syndrome type IIb
1416
crystal deposition disease 1335 Cantrell syndrome Carbohydrate deficient glycoprotein
79332
1408 Calderón-González-Cantu syndrome syndrome type IId
Cantu craniofaciofrontodigital
228123 California disease 363705 Carbohydrate deficient glycoprotein
syndrome 79333
83483 Californian encephalitis syndrome type IIe
504476 CANVAS
289601 CALJA Carbohydrate deficient glycoprotein
171881 Cap disease 238459
Calvarial doughnut lesions-bone syndrome type IIf
85192 160148 Cap inflammatory polyposis
fragility syndrome Carbohydrate deficient glycoprotein
171881 Cap myopathy 263508
→1466 CAMAK syndrome syndrome type IIg
160148 Cap polyposis Carbohydrate deficient glycoprotein
3003 Camera syndrome 85199 CAP syndrome 95428
syndrome type IIh
2163 Camero-Lituania-Cohen syndrome 166260 Capdepont teeth Carbohydrate deficient glycoprotein
→1466 CAMFAK syndrome 75327 263487
CAPE dystrophy syndrome type IIi
79395 Camisa disease 75327 CAPED Carbohydrate deficient glycoprotein
83472 CAMOS syndrome 263501
Capillary hyperpermeability syndrome type IIj
1318 Campomelia, Cumming type 188
syndrome Carbohydrate deficient glycoprotein
140 Campomelic dwarfism 314667
188 Capillary leak syndrome syndrome type IIk
140 Campomelic dysplasia 79490 Capillary lymphangioma Carbohydrate deficient glycoprotein
1319 Camptobrachydactyly 468699
79490 Capillary lymphatic malformation syndrome type IIn
295016 Camptodactyly of fingers Capillary malformation- Carbohydrate deficient glycoprotein
137667 468684
Camptodactyly syndrome, arteriovenous malformation syndrome type IIo
1327
Guadalajara type 1 1171 CAPOS syndrome Carbohydrate deficient glycoprotein
466703
Camptodactyly syndrome, 171839 Capra-DeMarco syndrome syndrome type IIp
1326
Guadalajara type 2 464343 CAPS Carbohydrate deficient glycoprotein
86309
Camptodactyly syndrome, 71505 CAR syndrome syndrome type Ij
488434
Guadalajara type 3 199354 CARASIL Carbohydrate deficient glycoprotein
79327
Camptodactyly-arthropathy-coxa- Carbamoyl-phosphate synthetase 1 syndrome type Ik
2848
vara-pericarditis syndrome 147 Carbohydrate deficient glycoprotein
deficiency 79328
Camptodactyly-cleft palate-clubfoot Carbamoyl-phosphate synthetase syndrome type IL
376
syndrome 147 Carbohydrate deficient glycoprotein
deficiency 91131
Camptodactyly-fibrous tissue Carbamoyl-phosphate synthetase I syndrome type Im
1321 hyperplasia-skeletal dysplasia 147 Carbohydrate deficient glycoprotein
deficiency 244310
syndrome syndrome type In
Carbohydrate deficient glycoprotein
Camptodactyly-joint contractures- 79318 Carbohydrate deficient glycoprotein
1323 syndrome type Ia 263494
facial skeletal defects syndrome syndrome type Io
Camptodactyly-overgrowth-unusual 79319 Carbohydrate deficient glycoprotein
3447 syndrome type Ib 280071
facies syndrome syndrome type Ip
Camptodactyly-tall stature-scoliosis- 79320 Carbohydrate deficient glycoprotein
85164 syndrome type Ic 300536
hearing loss syndrome syndrome type Ir
1325 Camptodactyly-taurinuria syndrome 79321 Carbohydrate deficient glycoprotein
syndrome type Id 329178
1766 CAMRQ syndrome syndrome type Iu
141194 CAMS1 79322 Carbohydrate deficient glycoprotein
syndrome type Ie 370924
53719 CAMS2 Carbohydrate deficient glycoprotein syndrome type Ix
141199 CAMS3 79323 Carbohydrate deficient glycoprotein
syndrome type If 370927
3319 CAMT Carbohydrate deficient glycoprotein syndrome type Iy
79324 Carbohydrate deficient glycoprotein
1328 Camurati-Engelmann disease syndrome type Ig 448010
3261 Canale-Smith syndrome Carbohydrate deficient glycoprotein syndrome type Iz
79325
141 Canavan disease syndrome type Ih
ORPHA ORPHA ORPHA
Carbon monoxide-induced 1359 Carney complex 93973 Carpenter-Waziri syndrome
306686
parkinsonism 319340 Carney complex variant 2767 Carpotarsal osteochondromatosis
2785 Carbonic anhydrase 2 deficiency Carney complex-trismus- 64692 Carrion disease
319340
213605 Carcinofibroma of the corpus uteri pseudocamptodactyly syndrome 175 Cartilage-hair hypoplasia
100093 Carcinoid syndrome 97286 Carney dyad Cartilage-hair hypoplasia-like-
Carcinoma associated with 1359 Carney syndrome →175 skeletal dysplasia without
319308
MITF/TFE translocation 139411 Carney triad hypotrichosis syndrome
Carcinoma of esophagus, salivary 97286 Carney-Stratakis dyad 65282 Carvajal syndrome
418945
gland type 97286 Carney-Stratakis syndrome 209908 CAS
Carcinoma of stomach, salivary Carnitine deficiency secondary to 56425 CAS
423781
gland type 42 medium-chain acyl-CoA Casamassima-Morton-Nance
94095
300557 Carcinoma of the ampulla of Vater dehydrogenase deficiency syndrome
213787 Carcinosarcoma of the cervix uteri Carnitine palmitoyl transferase 1A 275517 Caspase 8 deficiency syndrome
156
213610 Carcinosarcoma of the corpus uteri deficiency 1101 Cassia Stocco dos Santos syndrome
Cardiac anomalies-heterotaxy Carnitine palmitoyl transferase 160 Castleman disease
137628 228302
syndrome deficiency type 2, adult-onset form Castro Gago-Pombo-Novo
2513
Cardiac conduction disease-dilated Carnitine palmitoyl transferase syndrome
168796 cardiomyopathy-brachydactyly 228305 deficiency type 2, 195 Cat-eye syndrome
syndrome hepatocardiomuscular form 50839 Cat-scratch disease
1686 Cardiac diverticulum Carnitine palmitoyl transferase 926 Catalase deficiency
875 Cardiac tumor of child 228308 deficiency type 2, lethal systemic Cataract-aberrant oral frenula-
Cardiocranial syndrome, Pfeiffer form 1373
2872 growth delay syndrome
type Carnitine palmitoyl transferase Cataract-alopecia-sclerodactyly
228302
1340 Cardiofaciocutaneous syndrome deficiency type 2, myopathic form 1366
syndrome
97292 Cardiogenic shock Carnitine palmitoyl transferase 1368 Cataract-ataxia-deafness syndrome
228308
2229 Cardiogenital syndrome deficiency type 2, neonatal form
Cataract-congenital heart disease-
Carnitine palmitoyl transferase 314993
1342 Cardiomelic syndrome type 3 neural tube defect syndrome
228305 deficiency type 2, severe infantile
500 Cardiomyopathic lentiginosis Cataract-deafness-hypogonadism
form 1383
Cardiomyopathy with hypotonia syndrome
70474 due to cytochrome C oxidase Carnitine palmitoyl transferase IA
156 162 Cataract-glaucoma syndrome
deficiency deficiency
Cataract-growth hormone
Cardiomyopathy with myopathy Carnitine palmitoyl transferase II
228302 deficiency-sensory neuropathy-
70474 deficiency, adult-onset form 436174
due to COX deficiency sensorineural hearing loss-skeletal
Cardiomyopathy-cataract-hip spine Carnitine palmitoyl transferase II dysplasia syndrome
1345 228305 deficiency, hepatocardiomuscular
disease syndrome Cataract-hypertrichosis-intellectual
form 1375
Cardiomyopathy-hypotonia-lactic disability syndrome
91130 Carnitine palmitoyl transferase II
acidosis syndrome 228308 Cataract-intellectual disability-anal
deficiency, lethal systemic form 1381
Cardiomyopathy-renal anomalies atresia-urinary defects syndrome
90022 Carnitine palmitoyl transferase II
syndrome 228302 Cataract-intellectual disability-
deficiency, myopathic form 1387
Cardioskeletal myopathy with hypogonadism syndrome
111 neutropenia and abnormal Carnitine palmitoyl transferase II
228308 Cataract-microcephaly-
mitochondria deficiency, neonatal form →1466
arthrogryposis-kyphosis syndrome
Cardioskeletal myopathy- Carnitine palmitoyl transferase II
228305 Cataract-microcephaly-failure to
111 deficiency, severe infantile form →1466
neutropenia syndrome thrive-kyphoscoliosis syndrome
Cardiospondylocarpofacial Carnitine palmitoyltransferase
157 1377 Cataract-microcornea syndrome
3238 deficiency type 2
syndrome Cataract-microphthalmia-
2072 Cardiovascular Gaucher disease Carnitine palmitoyltransferase II
157 2712 radiculomegaly-cardiac septal defect
deficiency
1358 Carey-Fineman-Ziter syndrome syndrome
158 Carnitine transporter defect
97355 Caribbean parkinsonism Cataract-nephropathy-
158 Carnitine uptake deficiency 1380
79403 Carmi syndrome encephalopathy syndrome
Carnitine-acylcarnitine translocase Cataracts-motor neuropathy-short
→293843 Carnevale syndrome 159
deficiency 447753
Carnevale-Hernández-del Castillo stature-skeletal anomalies syndrome
2947 1361 Carnosinase deficiency
syndrome Catastrophic antiphospholipid
53035 Caroli disease 464343
Carnevale-Krajewska-Fischetto syndrome
→293843 480520 Caroli syndrome
syndrome 464343 Catastrophic APS
65759 Carpenter syndrome
ORPHA ORPHA ORPHA
567 CATCH 22 238505 CD27 deficiency 263487 CDG2I
Catecholaminergic polymorphic CD30 positive anaplastic large cell 263501 CDG2J
3286 98841
ventricular tachycardia lymphoma 314667 CDG2K
800 Catel-Hempel syndrome 293825 CDA due to KLF1 mutation 464443 CDG2L
1388 Catel-Manzke syndrome 98869 CDA I 356961 CDG2M
228337 Cathepsin D deficiency 98873 CDA II 468699 CDG2N
60015 Catlin marks 98870 CDA III 468684 CDG2O
85164 CATSHL syndrome 293825 CDA IV 466703 CDG2P
Caudal appendage-deafness 98869 CDA type 1 79318 CDG syndrome type Ia
1123
syndrome 98873 CDA type 2 79319 CDG syndrome type Ib
1756 Caudal duplication 98870 CDA type 3 79320 CDG syndrome type Ic
3027 Caudal dysplasia 293825 CDA type 4 79321 CDG syndrome type Id
3027 Caudal regression sequence 98869 CDA type I 79322 CDG syndrome type Ie
99994 Causalgia 98873 CDA type II 79323 CDG syndrome type If
1329 CAVC 98870 CDA type III 79324 CDG syndrome type Ig
99068 CAVC-Fallot tetralogy syndrome 293825 CDA type IV 79325 CDG syndrome type Ih
CAVC-left heart obstruction 85199 CDAGS syndrome 79326 CDG syndrome type Ii
99066
syndrome 293825 CDAN4 79329 CDG syndrome type IIa
CAVC-ventricle hypoplasia 247203 CDC 79330 CDG syndrome type IIb
99067
syndrome 163681 CDFE syndrome 99843 CDG syndrome type IIc
Cavernous hemangiomas of face- 163681 CDFES 79332 CDG syndrome type IId
2124 supraumbilical midline raphe 79318 CDG1A 79333 CDG syndrome type IIe
syndrome
79319 CDG1B 238459 CDG syndrome type IIf
79489 Cavernous lymphangioma
79320 CDG1C 263508 CDG syndrome type IIg
79489 Cavernous lymphatic malformation
79321 CDG1D 95428 CDG syndrome type IIh
165958 Cavitary myiasis
79322 CDG1E 263487 CDG syndrome type IIi
567 Cayler cardiofacial syndrome
79323 CDG1F 263501 CDG syndrome type IIj
94122 Cayman ataxia
79324 CDG1G 314667 CDG syndrome type IIk
529808 CBE
79325 CDG1H 464443 CDG syndrome type IIL
363972 CBL syndrome
79326 CDG1I 356961 CDG syndrome type IIm
79282 CblC defect
86309 CDG1J 468699 CDG syndrome type IIn
79283 CblD defect
79327 CDG1K 468684 CDG syndrome type IIo
79284 CblF defect
79328 CDG1L 466703 CDG syndrome type IIp
369955 CblJ defects
91131 CDG1M 86309 CDG syndrome type Ij
70567 CCA
244310 CDG1N 79327 CDG syndrome type Ik
115 CCA syndrome
263494 CDG1O 79328 CDG syndrome type IL
2444 CCAM
280071 CDG1P 91131 CDG syndrome type Im
280832 CCAM type 1
324737 CDG1Q 244310 CDG syndrome type In
280840 CCAM type 2
300536 CDG1R 263494 CDG syndrome type Io
280847 CCAM type 3
324422 CDG1S 280071 CDG syndrome type Ip
468684 CCDC115-CDG
319646 CDG1T 324737 CDG syndrome type Iq
98972 CCDF
329178 CDG1U 300536 CDG syndrome type Ir
48431 CCFDN
370921 CDG1W 324422 CDG syndrome type Is
2008 CCGE syndrome
370924 CDG1X 319646 CDG syndrome type It
99827 CCHF
370927 CDG1Y 329178 CDG syndrome type Iu
661 CCHS
448010 CDG1Z 370921 CDG syndrome type Iw
289499 CCMCO
79329 CDG2A 370924 CDG syndrome type Ix
319276 CCRCC
79330 CDG2B 370927 CDG syndrome type Iy
2505 CCSF
99843 CDG2C 448010 CDG syndrome type Iz
457246 CCSK
79332 CDG2D 79318 CDG-Ia
280779 CCV
79333 CDG2E 79319 CDG-Ib
CD4+/CD56+ hematodermic
86870 238459 CDG2F 79320 CDG-Ic
neoplasm
263508 CDG2G 79321 CDG-Id
437552 CD16 deficiency
95428 CDG2H
ORPHA ORPHA ORPHA
79322 CDG-Ie 293208 Celiac artery compression syndrome Cerebellar ataxia-ectodermal
1174
79323 CDG-If Celiac disease-epilepsy-cerebral dysplasia syndrome
1459
79324 CDG-Ig calcification syndrome Cerebellar ataxia-hypogonadism
1173
79325 CDG-Ih 3258 Cenani syndactyly syndrome
79326 CDG-Ii 3258 Cenani-Lenz syndactyly Cerebellar ataxia-intellectual
79329 CDG-IIa 3258 Cenani-Lenz syndrome 1766 disability-dysequilibrium syndrome
79330 CDG-IIb 75377 Central areolar choroidal dystrophy syndrome
99843 CDG-IIc 75377 Central areolar choroidal sclerosis Cerebellar ataxia-intellectual
83472 disability-optic atrophy-skin
79332 CDG-IId Central areolar pigment epithelial
75327 abnormalities syndrome
79333 CDG-IIe dystrophy
2431 Central bilateral macrogyria Cerebellar atrophy with progressive
238459 CDG-IIf 97249
microcephaly
263508 CDG-IIg Central cloudy corneal dystrophy of
98972 Cerebellar hypoplasia-tapetoretinal
95428 CDG-IIh François 2246
degeneration syndrome
263487 98972 Central cloudy dystrophy of François
CDG-IIi 251931 Cerebellar liponeurocytoma
263501 CDG-IIj Central congenital hypoventilation
661 Cerebellar syndrome-pigmentary
314667 CDG-IIk syndrome 94147
maculopathy syndrome
597 Central core disease
464443 CDG-IIL Cerebellar vermis hypoplasia-
178029 Central diabetes insipidus
356961 CDG-IIm 1454 oligophrenia-congenital ataxia-
468699 CDG-IIn
→98967 Central discoid corneal dystrophy coloboma-hepatic fibrosis
468684 CDG-IIo Central hypothyroidism due to TRH 444072 Cerebellar-facial-dental syndrome
99832
receptor deficiency
466703 CDG-IIp 444072 Cerebellofaciodental syndrome
Central nervous system
86309 CDG-Ij 2318 Cerebellooculorenal syndrome
3240 calcification-deafness-tubular
79327 CDG-Ik 475 Cerebelloparenchymal disorder IV
acidosis-anemia syndrome
79328 CDG-IL Cerebellotrigeminal-dermal
73256 Central neurocytoma 1532
91131 CDG-Im dysplasia syndrome
637 Central neurofibromatosis
244310 CDG-In Cerebral arteriovenous
295004 Central polydactyly 46724
263494 CDG-Io malformation
759 Central precocious puberty
280071 CDG-Ip Cerebral autosomal dominant
Central retinal pigment epithelial 136 arteriopathy with subcortical
324737 CDG-Iq 75327
dystrophy infarcts and leukoencephalopathy
300536 CDG-Ir 411527 Central retinal vein occlusion
324422 CDG-Is Cerebral autosomal recessive
443079 Central serous chorioretinopathy 199354 arteriopathy with subcortical
319646 CDG-It 90156 Centrifugal lipodystrophy infarcts and leukoencephalopathy
329178 CDG-Iu Centripetal dystrophic
89841 Cerebral dysgenesis-neuropathy-
370921 CDG-Iw epidermolysis bullosa 66631 ichthyosis-palmoplantar
370924 CDG-Ix Centripetal recessive dystrophic keratoderma syndrome
89841
370927 CDG-Iy epidermolysis bullosa 821 Cerebral gigantism
448010 CDG-Iz Centripetalis recessive dystrophic →1900 Cerebral gigantism, Nevo type
89841
2140 CDH epidermolysis bullosa Cerebral gigantism-jaw cysts
1529 Centronuclear myopathy type 4 2081
CDHS 319160 syndrome
178029 CDI 1945 Centrotemporal epilepsy Cerebral juvenile and adult form of
77261
505652 CDKL5 deficiency disorder 79277 CEP Gaucher disease
CDKL5-related epileptic 2398 Cephalothoracic lipodystrophy Cerebral proliferative glomeruloid
505652 221126
encephalopathy 79506 CEPT deficiency vasculopathy
3194 CDO syndrome Cerebellar ataxia with azoospermia 329217 Cerebral sinovenous thrombosis
276183
1490 CDPD and intellectual disability 447788 Cerebral visual impairment
35173 CDPX2 Cerebellar ataxia with bilateral Cerebro-cutaneous syndrome with
504476 397922
35173 CDPXD vestibulopathy syndrome iron overload
158 CDSP Cerebellar ataxia with neuropathy Cerebro-oculo-facial-lymphatic
→2995
468641 CEAS 504476 and bilateral vestibular areflexia syndrome
1459 CEC syndrome 1393 Cerebrocostomandibular syndrome
2718 Cecato de Lima-Pinheiro syndrome 94122 Cerebellar ataxia, Cayman type Cerebrofacial arteriovenous
141194
1515 CED Cerebellar ataxia-areflexia-pes metameric syndrome type 1
1171 cavus-optic atrophy-sensorineural Cerebrofacial arteriovenous
66631 CEDNIK syndrome 53719
hearing loss syndrome metameric syndrome type 2
275517 CEDS
ORPHA ORPHA ORPHA
Cerebrofacial arteriovenous 1520 CFND Charcot-Marie-Tooth disease type
141199 99956
metameric syndrome type 3 1520 CFNS 4B2
314679 Cerebrofacioarticular syndrome 2020 CFTDM Charcot-Marie-Tooth disease type
363981
1394 Cerebrofaciothoracic dysplasia 379 CGD 4B3
912 Cerebrohepatorenal syndrome 2026 CGHT Charcot-Marie-Tooth disease type
99949
Cerebromedullospinal 2388 ChAc 4C
2406
disconnection 307766 CHAC syndrome Charcot-Marie-Tooth disease type
99950
Cerebrooculodentoauriculoskeletal 307766 CHACS 4D
1458
syndrome 3386 Chagas disease Charcot-Marie-Tooth disease type
99951
Cerebrooculofacioskeletal 4E
1466 436159 CHAI
syndrome Charcot-Marie-Tooth disease type
1401 CHAND syndrome 99952
66625 Cerebrooculonasal syndrome 4F
98979 Chandler syndrome
505242 Cerebrorenal syndrome, Perez type Charcot-Marie-Tooth disease type
1401 CHANDS 99953
Cerebroretinal microangiopathy 4G
313838 2235 Chang-Davidson-Carlson syndrome
with calcifications and cysts Charcot-Marie-Tooth disease type
88642 Channelopathy-associated CIP 99954
→247691 Cerebroretinal vasculopathy 4H
Channelopathy-associated Charcot-Marie-Tooth disease type
909 Cerebrotendinous xanthomatosis 88642 139515
congenital insensitivity to pain 4J
1980 Cerebrovascular ferrocalcinosis 3282 Chaotic atrial tachycardia Charcot-Marie-Tooth disease type
169079 Cernunnos deficiency 391351
319244 Chapare hemorrhagic fever 4K
169079 Cernunnos XLFD
46627 Char syndrome 90120 Charcot-Marie-Tooth disease type 6
169079 Cernunnos-XLF deficiency
1964 Char-Douglas-Dungan syndrome Charcot-Marie-Tooth disease with
98989 Cerulean cataract 363981
803 Charcot disease focally folded myelin
213772 Cervical adenocarcinoma
Charcot-Marie-Tooth disease type Charcot-Marie-Tooth disease-
213828 Cervical adenoid basal carcinoma 101081 90658
1A deafness syndrome
213823 Cervical adenoid cystic carcinoma Charcot-Marie-Tooth disease type
101082 Charcot-Marie-Tooth disease-
213792 Cervical adenosarcoma 1B 90103 deafness-intellectual disability
99079 Cervical aortic arch Charcot-Marie-Tooth disease type syndrome
101083
213787 Cervical carcinosarcoma 1C Charcot-Marie-Tooth disease-
93114
141046 Cervical dermoid cyst Charcot-Marie-Tooth disease type nephropathy syndrome
101084
213837 Cervical germ cell cancer 1D Charcot-Marie-Tooth disease-
64751
Cervical hypertrichosis-peripheral Charcot-Marie-Tooth disease type pyramidal features syndrome
2218 90658
neuropathy syndrome 1E 138 CHARGE association
213807 Cervical leiomyosarcoma Charcot-Marie-Tooth disease type 138 CHARGE syndrome
101085
213837 Cervical malignant germ cell tumor 1F 921 CHARGE-like syndrome
Cervical malignant Müllerian mixed Charcot-Marie-Tooth disease type 1496 Charlevoix disease
213787 98856
tumor 2B1 1406 Charlie M syndrome
Cervical malignant peripheral Charcot-Marie-Tooth disease type 168577 CHC type 2
213812 101101
neuroectodermal tumor 2B2 529852 cHCC-CC
213817 Cervical papillary carcinoma Charcot-Marie-Tooth disease type 98975 CHED1
228374
Cervical peripheral 2B5
213812 293603 CHED2
neuroectodermal cancer Charcot-Marie-Tooth disease type
101102 98975 CHEDI
213802 Cervical rhabdomyosarcoma 2H
167 Chédiak-Higashi disease
268392 Cervical spina bifida aperta Charcot-Marie-Tooth disease type
300319 167 Chédiak-Higashi syndrome
268762 Cervical spina bifida cystica 2P
Charcot-Marie-Tooth disease type
381 Chédiak-Higashi-like syndrome
213767 Cervical squamous cell carcinoma 397968
2R Chédiak-Higashi-Steinbrink
141067 Cervicofacial fibrochondroma 167
Charcot-Marie-Tooth disease type syndrome
3456 Cervicooculoacoustic syndrome 443073 293603 CHEDII
2S
268397 Cervicothoracic spina bifida aperta 1221 Cheilitis glandularis
268766 Cervicothoracic spina bifida cystica 495274 99647 Cheirospondyloenchondromatosis
2T
195 CES 955 Cheney syndrome
64748 Charcot-Marie-Tooth disease type 3
231573 CEVD Cherry-red spot-myoclonus
Charcot-Marie-Tooth disease type 812
586 CF 99948 syndrome
4A
2032 CFA 184 Cherubism
1340 CFC syndrome 99955
4B1
ORPHA ORPHA ORPHA
Cherubism-gingival fibromatosis- Childhood-onset spasticity with Chondroectodermal dysplasia with
3019 401866 319195
intellectual disability syndrome hyperglycinemia night blindness
→672 CHHS Childhood-onset spasticity with 404507 Chondromyxoid fibroma
401866
268882 Chiari malformation type 1 variant non-ketotic hyperglycinemia 55880 Chondrosarcoma
1136 Chiari malformation type 2 3474 CHIME syndrome 444077 CHOPS syndrome
268882 Chiari malformation type I Chitayat-Meunier-Hodgkinson 251674 Chordoid glioma
2888
1136 Chiari malformation type II syndrome 178 Chordoma
324625 Chikungunya 3218 Chitty-Hall-Baraitser syndrome 2388 Chorea-acanthocytosis
90280 Chilblain lupus 757 Chloride shunt syndrome 2388 Choreoacanthocytosis
139 CHILD nevus 86850 Chloroma Choreoathetosis-hypothyroidism-
139 CHILD syndrome 180 CHM 209905 neonatal respiratory distress
64280 Childhood absence epilepsy 1434 CHM-hypopituitarism syndrome syndrome
439175 Childhood AIS 137914 Choanal atresia Choriocarcinoma of the central
252015
209908 Childhood apraxia of speech 137920 Choanal atresia, bilateral nervous system
439175 Childhood arterial ischemic stroke 137917 Choanal atresia, unilateral 251899 Choroid plexus carcinoma
Childhood ataxia with diffuse Choanal atresia-hearing loss-cardiac 2807 Choroid plexus papilloma
135 central nervous system 1200 defects-craniofacial dysmorphism Choroidal atrophy-alopecia
1433
hypomyelination syndrome syndrome
168782 Childhood disintegrative disorder 70567 Cholangiocarcinoma 39044 Choroidal melanoma
Childhood encephalopathy due to 480501 Choledochal cyst 180 Choroideremia
293955 thiamine pyrophosphokinase 173 Cholera Choroideremia-deafness-obesity
1435
deficiency Cholestasis with delta(4)-3- syndrome
391497 Childhood myasthenia gravis 79303 oxosteroid 5-beta-reductase Choroideremia-hypopituitarism
1434
Childhood-onset autosomal deficiency syndrome
363677 recessive myopathy with external 1414 Cholestasis-lymphedema syndrome 94087 CHP
ophthalmoplegia Cholestasis-pigmentary retinopathy- 440727 CHR-RPE
1415
Childhood-onset autosomal cleft palate syndrome 181 Christ-Siemens-Touraine syndrome
284324 recessive slowly progressive Cholestatic jaundice-renal tubular 1436 Christian syndrome
→2697
spinocerebellar ataxia insufficiency syndrome 85278 Christianson syndrome
Childhood-onset basal ganglia 75234 Cholesterol ester storage disease 1808 Christianson-Fourie syndrome
497906
degeneration syndrome Cholesterol-ester transfer protein 98879 Christmas disease
79506
Childhood-onset benign chorea with deficiency 182 Chromoblastomycosis
494541
striatal involvement 75234 Cholesteryl ester storage disease 182 Chromomycosis
Childhood-onset collagenous Chondrodysplasia punctata, Chromophobe renal cell
487809 79344
gastritis Sheffield type 319303
adenocarcinoma
Childhood-onset generalized Chondrodysplasia punctata, tibial- 319303 Chromophobe renal cell carcinoma
508093 79346
dystonia-optic atrophy syndrome metacarpal type 3380 Chromosome 18 duplication
33402 Childhood-onset HCC Chondrodysplasia punctata, Toriello
79347 1445 Chromosome 21 en anneau
Childhood-onset hepatocellular type
33402 330064 Chronic actinic dermatitis
carcinoma Chondrodysplasia with congenital
263463 314928 Chronic adult hydrocephalus
247667 Childhood-onset hypophosphatasia joint dislocations, CHST3 type
Chronic and localized Langerhans
Childhood-onset motor and Chondrodysplasia with joint 99871
280586 cell histiocytosis
500180 cognitive regression syndrome with dislocations, gPAPP type
137817 Chronic arachnoiditis
extrapyramidal movement disorder Chondrodysplasia with snail-like
3144 Chronic ataxic neuropathy-
Childhood-onset nemaline pelvis
171439 ophthalmoplegia-IgM paraprotein-
myopathy 50945 Chondrodysplasia, Blomstrand type 71279
cold agglutinins-disialosyl antibodies
Childhood-onset 2098 Chondrodysplasia, Grebe type
247667 syndrome
phosphoethanolaminuria Chondrodysplasia-dentinogenesis
166272 Chronic atrial and intestinal
Childhood-onset progressive imperfecta-joint laxity syndrome 435988
dysrhythmia syndrome
466921 contractures-limb-girdle weakness- Chondrodysplasia-disorder of sex
muscle dystrophy syndrome 1422 Chronic atrial dysrhythmia-
development syndrome 435988
intestinal motility disorder
247667 Childhood-onset Rathburn disease Chondrodystrophia calcificans
35173 Chronic atypical neutrophilic
Childhood-onset spastic congenita 325004 dermatosis-lipodystrophy-elevated
101000 paraparesis-distal muscle wasting 289 Chondroectodermal dysplasia temperature syndrome
syndrome
2137 Chronic autoimmune hepatitis
ORPHA ORPHA ORPHA
133 Chronic berylliosis Chronic neuronopathic Gaucher 443811 CID due to PGM3 deficiency
77261
133 Chronic beryllium disease disease 157949 CID due to RAG 1/2 deficiency
133 Chronic beryllium lung disease 86829 Chronic neutrophilic leukemia 317430 CID due to STIM1 deficiency
529808 Chronic bilirubin encephalopathy 512017 Chronic NK lymphocytosis 314689 CID due to STK4 deficiency
56425 Chronic cold agglutinin disease 512017 Chronic NK-cell lymphocytosis 476113 CID due to TFRC deficiency
Chronic dacryoadenitis and Chronic nonbacterial CID with expansion of gamma delta
79078 231154
sialadenitis 324964 osteomyelitis/Chronic recurrent T cells
Chronic diarrhea due to multifocal osteomyelitis 436252 CID-MIA/early-onset IBD
103907
glucoamylase deficiency Chronic obstetric brachial plexus CIDEC-related familial partial
439202 435651
Chronic diarrhea due to guanylate injury lipodystrophy
314373
cyclase 2C overactivity Chronic obstetric brachial plexus 435651 CIDEC-related FPLD
439202
Chronic diarrhea with hereditary palsy 2932 CIDP
397606
sensory and autonomic neuropathy Chronic pain requiring intraspinal 79394 CIE
95426
397606 Chronic diarrhea with HSAN analgesia 294422 CIF
Chronic diarrhea with villous 330064 Chronic photosensitivity dermatitis 1223 Ciliary dysentery
1670
atrophy 91359 Chronic pneumonitis of infancy 2114 Cilliers-Beighton syndrome
2566 Chronic EBV infection syndrome Chronic recurrent isolated optic 1451 CINCA syndrome
499085
279891 Chronic endophthalmitis neuritis
CIP with hyperhidrosis and
Chronic enteropathy associated Chronic recurrent multifocal 391397
468641 gastrointestinal dysfunction
with SLCO2A1 gene osteomyelitis-congenital
77297 642 CIP-anhidrosis syndrome
168940 Chronic eosinophilic leukemia dyserythropoietic anemia-
2978 CIPO
2902 Chronic eosinophilic pneumonia neutrophilic dermatosis syndrome
Chronic relapsing inflammatory Circumferential skin creases, Kunze
Chronic Epstein-Barr virus infection 2505
499085 type
2566 optic neuropathy
syndrome Circumscribed palmoplantar
99921 Chronic graft versus host disease Chronic respiratory distress with 69744
217566 hypokeratosis
surfactant metabolism deficiency
521 Chronic granulocytic leukemia Cirrhosis-dystonia-polycythemia-
Chronic sensory ataxic neuropathy 309854
379 Chronic granulomatous disease 71279 hypermanganesemia syndrome
with anti-dyalosyl IgM antibodies
396 Chronic hiccup 57777 Cirrhotic cardiomyopathy
379 Chronic septic granulomatosis
Chronic infantile neurological 157820 CISS
1451 83418 Chronic spinal muscular atrophy
cutaneous articular syndrome 247525 Citrullinemia type 1
Chronic thromboembolic pulmonary
Chronic infantile spinal muscular 70591 247585 Citrullinemia type 2
83418 hypertension
atrophy 247525 Citrullinemia type I
97353 Chronic traumatic encephalopathy
Chronic inflammatory 247585 Citrullinemia type II
2932 37748 Chronic urticaria with gammopathy
demyelinating polyneuropathy 251383 CK syndrome
Chronic inflammatory Chronic urticaria with
37748 90790
macroglobulinemia CLAH
2932 demyelinating
263463 CHST3-related skeletal dysplasia 97249 CLAM
polyradiculoneuropathy
93971 Chudley-Lowry syndrome 168984 CLAPO syndrome
294422 Chronic intestinal failure
93971 Chudley-Lowry-Hoar syndrome 188 Clarkson disease
Chronic intestinal
2978 314597 Chudley-McCullough syndrome 466026 Class I G6PD deficiency
pseudoobstruction
Chronic lymphocytic inflammation 3068 Chudley-Rozdilsky syndrome Class I glucose-6-phosphate
466026
284448 with pontine perivascular 183 Churg-Strauss syndrome dehydrogenase deficiency
enhancement responsive to steroids 238557 Chuvash erythrocytosis 90794 Classic 21-OHD CAH
Chronic lymphoproliferative 238557 Chuvash polycythemia Classic 21-OHD CAH, salt wasting
512017 315306
disorder of natural killer cells 71 Chylomicron retention disease form
Chronic lymphoproliferative 1160 Chylous ascites Classic 21-OHD CAH, simple virilizing
512017 315311
disorder of NK-cells form
46486 Cicatricial pemphigoid
1334 Chronic mucocutaneous candidiasis 85138 Classic Addison's disease
217390 CID due to DOCK8 deficiency
Chronic multifocal Langerhans cell Classic appendiceal neuroendocrine
99873 505227 CID due to GINS1 deficiency 329977
histiocytosis tumor
317473 CID due to IKAROS deficiency
521 Chronic myelogenous leukemia Classic appendix neuroendocrine
445018 CID due to LRBA deficiency 329977
521 Chronic myeloid leukemia tumor
317476 CID due to MAGT1 deficiency 93605 Classic Bartter syndrome
98823 Chronic myelomonocytic leukemia 504530 CID due to Moesin deficiency 268145 Classic BCKD deficiency
Chronic myeloproliferative disease, 317428 CID due to ORAI1 deficiency
86830 Classic branched-chain alpha-
unclassifiable 231154 CID due to partial RAG1 deficiency 268145
ketoacid dehydrogenase deficiency
ORPHA ORPHA ORPHA
268145 Classic branched-chain ketoaciduria 79254 Classic PKU 141242 Cleft nose
247525 Classic citrullinemia 280219 Classic PMD Cleft palate-cardiac defect-genital
2008
247546 Classic citrullinemia type 1 Classic progressive supranuclear anomalies-ectrodactyly syndrome
240071
247546 Classic citrullinemia type I palsy syndrome Cleft palate-coloboma-deafness
921
325524 Classic CLAH 240071 Classic PSP syndrome syndrome
Classic congenital adrenal 773 Classic Refsum disease Cleft palate-large ears-small head
2013
90794 hyperplasia due to 21-hydroxylase 18 Classic RTA syndrome
deficiency 443192 Classic SPS Cleft palate-lateral synechia
2016
Classic congenital adrenal 443192 Classic stiff person syndrome syndrome
315306 hyperplasia due to 21-hydroxylase 3467 Classic xanthinuria Cleft palate-Potter sequence-
deficiency, salt wasting form 2272 Clayton Smith-Donnai syndrome congenital heart anomalies-
2167
Classic congenital adrenal mesoaxial polydactyly-multiple
CLCN4-related X-linked intellectual
315311 hyperplasia due to 21-hydroxylase 485350 malformations syndrome
disability syndrome
deficiency, simple virilizing form Cleft palate-short stature-vertebral
Clear cell adenocarcinoma of the 2015
Classic congenital lipoid adrenal 398971 anomalies syndrome
325524 ovary
hyperplasia due to STAR deficency Cleft palate-stapes fixation-
Clear cell papillary renal cell 2010
93930 Classic exstrophy of the bladder 404511 oligodontia syndrome
carcinoma
79239 Classic galactosemia 99772 Cleft soft palate
319276 Clear cell renal carcinoma
98962 Classic GCD 99772 Cleft velum
319276 Clear cell renal cell adenocarcinoma
289857 Classic glycine encephalopathy 99772 Cleft velum palatinum
319276 Clear cell renal cell carcinoma
98962 Classic granular corneal dystrophy Clefting-ectropion-conical teeth
457246 Clear cell sarcoma of kidney 1997
58017 Classic hairy cell leukemia syndrome
Clear cell sarcoma of the tendons
391 Classic Hodgkin disease 97338 1452 Cleidocranial dysostosis
and aponeuroses
391 1452 Cleidocranial dysplasia
Classic Hodgkin lymphoma 101023 Cleft hard palate
Classic Hodgkin lymphoma, Cleidocranial dysplasia-
98846 141291 Cleft lip and alveolus
lymphocyte-depleted type 3472 micrognathia-absent thumbs
199306 Cleft lip and palate syndrome
Classic Hodgkin lymphoma, Cleft lip and palate-craniofacial
98845 1453 Cleidorhizomelic syndrome
lymphocyte-rich type 508476 dysmorphism-congenital heart
Classic Hodgkin lymphoma, mixed 284448 CLIPPERS
98844 defect-hearing loss syndrome
cellularity type 228329 CLN1 disease
199306 Cleft lip-alveolus-palate syndrome
Classic Hodgkin lymphoma, nodular 228349 CLN2 disease
98843 Cleft lip-cone rod dystrophy
sclerosis type 1995 228346 CLN3 disease
syndrome
394 Classic homocystinuria Cleft lip-limb and heart
228340 CLN4A disease
475 Classic Joubert syndrome 3429 228343 CLN4B disease
malformations syndrome
313 Classic lamellar ichthyosis Cleft lip-progressive retinopathy 228360 CLN5 disease
1995 228363 CLN6 disease
98964 Classic lattice corneal dystrophy syndrome
268145 Classic maple syrup urine disease 1995 Cleft lip-retinopathy syndrome 228366 CLN7 disease
158796 Classic mast cell leukemia 199306 Cleft lip/palate 228354 CLN8 disease
251867 Classic medulloblastoma Cleft lip/palate with mucous cysts of CLN8 disease, Northern epilepsy
888 1947
324604 Classic MmD lower lip variant
268145 Classic MSUD Cleft lip/palate-abnormal thumbs- 228357 CLN9 disease
2319
324604 Classic multiminicore disease microcephaly syndrome 228337 CLN10 disease
324604 Classic multiminicore myopathy Cleft lip/palate-deafness-sacral 314629 CLN11 disease
2003
2584 Classic mycosis fungoides lipoma syndrome 314632 CLN12 disease
Classic neuroendocrine tumor of Cleft lip/palate-ectodermal 352709 CLN13 disease
329977 3253
appendix dysplasia syndrome 263516 CLN14 disease
Classic pantothenate kinase- Cleft lip/palate-ectrodactyly 93929 Cloacal exstrophy
216866 →1896
associated neurodegeneration syndrome 314950 Clonal hypereosinophilic syndrome
Classic paraneoplastic limbic Cleft lip/palate-facial, eye, heart 268366 Closed iniencephaly
163898 2328
encephalitis and intestinal anomalies syndrome 189 Clouston syndrome
Classic paraneoplastic limbic Cleft lip/palate-intestinal Cloverleaf skull-asphyxiating
2001 100978
163898 encephalitis, with or without malrotation-cardiopathy syndrome thoracic dysplasia syndrome
intracellular antigens Cleft lip/palate-syndactyly-pili torti Cloverleaf skull-micromelic bone
3253 93274
93258 Classic Pfeiffer syndrome syndrome dysplasia syndrome
79254 Classic phenylketonuria 95465 Cleft mitral valve
ORPHA ORPHA ORPHA
Cloverleaf skull-multiple congenital 99941 CMT2G 512017 CNKL
93267
anomalies syndrome 101102 CMT2H 319160 CNM4
140944 CLOVES syndrome 99942 CMT2I 324964 CNO/CRMO
CLP1-related pontocerebellar 99943 CMT2J 306686 CO-induced parkinsonism
411493
hypoplasia 99944 CMT2K 1454 COACH syndrome
512017 CLPD-NK 99945 CMT2L 1456 Coarctation of the abdominal aorta
3253 CLPED1 228179 CMT2M COASY protein-associated
397725
192 CLS 228174 CMT2N neurodegeneration
85136 CLWM 284232 CMT2O 190 Coats disease
137667 CM-AVM 300319 CMT2P 313838 Coats plus syndrome
289504 CMAMMA 329258 CMT2Q 79282 Cobalamin C defect
1334 CMC 397968 CMT2R 79283 Cobalamin D defect
258 CMD1A 443073 CMT2S 79284 Cobalamin F defect
98893 CMD1B 495274 CMT2T 369955 Cobalamin J defect
→370953 CMD1C 397735 CMT2U 53721 Cobb syndrome
370959 CMD with cerebellar involvement 447964 CMT2V Cobblestone lissencephaly without
352682
370968 CMD with intellectual disability 488333 CMT2W muscular or eye involvement
CMD with intellectual disability and 466775 CMT2X Cobblestone lissencephaly without
329178 352682
severe epilepsy 435387 CMT2Y muscular or ocular involvement
370980 CMD without intellectual disability 466768 CMT2Z 1911 Cocaine embryofetopathy
370959 CMD-CRB 101077 90068 Cocaine intoxication
CMT3X
370968 CMD-MR 99948 CMT4A 228123 Coccidioides infection
370980 CMD-no MR 99955 CMT4B1 228123 Coccidioidomycosis
371007 CMDH 99956 CMT4B2 502318 Cochlear nerve deficiency
521 CML 363981 CMT4B3 Cochleosaccular degeneration-
3233
98823 CMML 99949 CMT4C cataract syndrome
252202 CMMR-D syndrome 99950 CMT4D
502305 Cochleovestibular dysplasia
99763 CMO I 191 Cockayne syndrome
99951 CMT4E
99763 CMO II 90321 Cockayne syndrome type 1
99952 CMT4F
CMP-sialic acid transporter 99953 CMT4G
90322 Cockayne syndrome type 2
238459
deficiency 99954 CMT4H
90324 Cockayne syndrome type 3
86830 CMPD-U 90321 Cockayne syndrome type I
139515 CMT4J
71 CMRD 90322 Cockayne syndrome type II
391351 CMT4K
590 CMS 101078 CMT4X
90324 Cockayne syndrome type III
101081 CMT1A 1458 CODAS syndrome
99014 CMT5X
101082 CMT1B 192 Coffin-Lowry syndrome
90120 CMT6
101083 CMT1C 1465 Coffin-Siris syndrome
352675 CMT6X
101084 CMT1D 1466 COFS syndrome
1556 CMTC
90658 CMT1E 263508 COG1-CDG
100043 CMTDIA
101085 CMT1F 435934 COG2-CDG
100044 CMTDIB
101075 CMT1X COG2-related congenital disorder of
100045 CMTDIC 435934
487814 CMT2 due to DGAT2 mutation glycosylation
100046 CMTDID
324611 CMT2 due to KIF5A mutation 263501 COG4-CDG
93114 CMTDIE
435819 CMT2 due to TFG mutation 263487 COG5-CDG
352670 CMTDIF
435387 CMT2 due to VCP mutation 464443 COG6-CGD
101075 CMTX1
401964 CMT2 with giant axons 79333 COG7-CDG
101076 CMTX2
99946 CMT2A1 95428 COG8-CDG
101077 CMTX3
99947 CMT2A2 Cogan microcystic epithelial
101078 CMTX4 98956
99936 CMT2B dystrophy
99014 CMTX5
99937 CMT2C 1467 Cogan syndrome
352675 CMTX6
99938 CMT2D 98980 Cogan-Reese syndrome
468635 CMUSE
521414 CMT2DD
CMV disease in patients with
99939 CMT2E 137698 impaired cell mediated immunity
99940 CMT2F deemed at risk
ORPHA ORPHA ORPHA
Cognitive impairment-coarse facies- Colobomatous microphthalmia- Combined deficiency of sulfite
424099
heart defects-obesity-pulmonary rhizomelic dysplasia syndrome 99732 oxidase, xanthine dehydrogenase
444077
involvement-short stature-skeletal Colobomatous optic disc-macular and aldehyde oxidase
dysplasia syndrome 435930 atrophy-chorioretinopathy Combined deficiency of sulfite
193 Cohen syndrome syndrome 308386 oxidase, xanthine dehydrogenase
2969 Cohen-Hayden syndrome Colobomatous-microphthalmia- and aldehyde oxidase type A
→138
79144 COIF heart disease-hearing loss syndrome Combined deficiency of sulfite
79144 COIF syndrome 1198 Colonic atresia 308393 oxidase, xanthine dehydrogenase
COL4A1-related brain small vessel 100080 Colonic NET and aldehyde oxidase type B
36383 Combined deficiency of sulfite
disease with hemorrhage Color blindness, blue monocone
16 308400 oxidase, xanthine dehydrogenase
COL4A1-related familial vascular monochromatic type
36383 and aldehyde oxidase type C
leukoencephalopathy 83595 Colorado tick encephalitis
COL4A1-related retinal arteriolar 83595 Colorado tick fever Combined hamartoma of the retina
440727
tortuosity-infantile hemiparesis- 83595 Colorado tick-borne disease and retinal pigment epithelium
36383 Combined hamartoma of the retina
autosomal dominant 733 Colorectal adenomatous polyposis 440727
leukoencephalopathy syndrome and RPE
Colorectal adenomatous polyposis
31824 Colchicine poisoning 261584 529852 Combined HCC-CC
due to monosomy 5q22.2
56425 Cold agglutinin disease Combined 17-hydroxylase/17,20- Combined hepatocellular carcinoma
529852
90793 and cholangiocarcinoma
56425 Cold agglutinin syndrome lyase deficiency
157820 Cold-induced sweating syndrome Combined alpha-delta platelet Combined hepatocellular-
529852
734 cholangiocarcinoma
324561 Cole disease storage pool deficiency
2050 Cole-Carpenter syndrome Combined cerebellar and peripheral Combined hyperactive dysfunction
221078
445062 ataxia-hearing loss-diabetes mellitus syndrome of the cranial nerves
84087 Collagen type III glomerulopathy
syndrome Combined immunodeficiency due to
84087 Collagenofibrotic glomerulopathy 169082
370114 Combined cervical dystonia CD3gamma deficiency
247203 Collecting duct carcinoma
Combined D-2-hydroxyglutaric Combined immunodeficiency due to
2412 Collins-Pope syndrome 169090
356978 acidemia and L-2-hydroxyglutaric CRAC channel dysfunction
98942 Coloboma of choroid and retina
acidemia Combined immunodeficiency due to
98943 Coloboma of eye lens 217390 dedicator of cytokinesis 8 protein
98946 Coloboma of eyelid Combined D-2-hydroxyglutaric
356978 aciduria and L-2-hydroxyglutaric deficiency
155889 Coloboma of inferior eyelid Combined immunodeficiency due to
aciduria 217390
98944 Coloboma of iris DOCK8 deficiency
Combined defect in
98945 Coloboma of macula Combined immunodeficiency due to
26 adenosylcobalamin and 505227
Coloboma of macula-brachydactyly methylcobalamin synthesis GINS1 deficiency
1471
type B syndrome Combined defect in Combined immunodeficiency due to
317473
98947 Coloboma of optic disc IKAROS deficiency
adenosylcobalamin and
Coloboma of optic nerve with renal 79282 Combined immunodeficiency due to
1475 methylcobalamin synthesis, type 357329
disease cblC IL21R deficiency
98947 Coloboma of optic papilla Combined defect in Combined immunodeficiency due to
445018
155884 Coloboma of superior eyelid adenosylcobalamin and LRBA deficiency
79283
Coloboma-congenital heart disease- methylcobalamin synthesis, type Combined immunodeficiency due to
317476
ichthyosiform dermatosis- cblD MAGT1 deficiency
3474
intellectual disability-ear anomalies Combined defect in Combined immunodeficiency due to
397964
syndrome adenosylcobalamin and MALT1 deficiency
79284
Coloboma-heart defects-atresia methylcobalamin synthesis, type Combined immunodeficiency due to
504530
choanae-retardation of growth and cblF Moesin deficiency
138 development-genitourinary Combined defect in Combined immunodeficiency due to
317428
problems-ear abnormalities 369955 adenosylcobalamin and ORAI1 deficiency
syndrome methylcobalamin synthesis, type cblJ Combined immunodeficiency due to
431149
Colobomatous macrophthalmia- Combined defect in OX40 deficiency
468672
microcornea syndrome adenosylcobalamin and Combined immunodeficiency due to
369962 231154
98938 Colobomatous microphthalmia methylcobalamin synthesis, type partial RAG1 deficiency
Colobomatous microphthalmia- cblX Combined immunodeficiency due to
443811
363741 obesity-hypogenitalism-intellectual Combined deficiency of factor V and PGM3 deficiency
35909
disability syndrome factor VIII Combined immunodeficiency due to
157949
RAG 1/2 deficiency
ORPHA ORPHA ORPHA
Combined immunodeficiency due to Combined oxidative Communicating congenital
317430 319509
STIM1 deficiency phosphorylation defect type 9 280821 bronchopulmonary-foregut
Combined immunodeficiency due to Combined oxidative malformation
314689 314637
STK4 deficiency phosphorylation defect type 10 Complement component 3
280133
Combined immunodeficiency due to Combined oxidative deficiency
476113 324535
TFRC deficiency phosphorylation defect type 11 Complete androgen insensitivity
99429
Combined immunodeficiency due to Combined oxidative syndrome
911 314051
ZAP70 deficiency phosphorylation defect type 12 Complete androgen resistance
99429
Combined immunodeficiency with Combined oxidative syndrome
431149 319514
childhood-onset Kaposi sarcoma phosphorylation defect type 13 1329 Complete atrioventricular canal
Combined immunodeficiency with Combined oxidative Complete atrioventricular canal-left
231154 319519 99066
expansion of gamma delta T cells phosphorylation defect type 14 heart obstruction syndrome
Combined immunodeficiency with Combined oxidative Complete atrioventricular canal-
221139 319524 99068
faciooculoskeletal anomalies phosphorylation defect type 15 tetralogy of Fallot syndrome
Combined immunodeficiency with Combined oxidative Complete atrioventricular canal-
157949 352563 99067
granulomatosis phosphorylation defect type 16 ventricle hypoplasia syndrome
Combined immunodeficiency with Combined oxidative Complete atrioventricular septal
39041 369913 1329
hypereosinophilia phosphorylation defect type 17 defect
Combined immunodeficiency with Combined oxidative 98949 Complete cryptophthalmia
431149 420728
impaired immunity to HHV-8 phosphorylation defect type 20 Complete deficiency of
289916
Combined immunodeficiency with Combined oxidative methylmalonyl-CoA mutase
420733
431149 impaired immunity to human herpes phosphorylation defect type 21 200418 Complete factor I deficiency
virus 8 Combined oxidative Complete growth hormone
444013 633
Combined immunodeficiency with phosphorylation defect type 23 insensitivity
intrauterine growth retardation- Combined oxidative 254688 Complete hydatidiform mole
505227 444458
natural killer cell deficiency- phosphorylation defect type 24 79293 Complete LCAT deficiency
neutropenia Combined oxidative Complete mevalonate kinase
447954 29
Combined immunodeficiency with phosphorylation defect type 25 deficiency
505227 intrauterine growth retardation-NK Combined oxidative
477684 254688 Complete molar pregnancy
cell deficiency-neutropenia phosphorylation defect type 26 Complete or incomplete color
Combined immunodeficiency with Combined oxidative 49382
477774 blindness
228423 susceptibility to mycobacterial, viral phosphorylation defect type 27 180126 Complete septate uterus
and fungal infections Combined oxidative
466784 101063 Complete situs inversus
Combined immunodeficiency- phosphorylation defect type 28
436252 101063 Complete situs inversus viscerum
enteropathy spectrum Combined oxidative
Combined immunodeficiency- 478029 Complete unilateral aplasia of the
phosphorylation defect type 29 180074
microcephaly-growth retardation- Müllerian ducts
169079 Combined oxidative Complete unilateral Müllerian
sensitivity to ionizing radiation 478042
syndrome aplasia
Combined pancreatic lipase-colipase Complex lethal
Combined insulin, insulin-like 309111
deficiency 457378
1979 growth factor 1 (IGF1) and epidermal osteochondrodysplasia
Combined pituitary hormone Complex lethal
growth factor (EGF) deficiency 95494
deficiencies, genetic forms 457378 osteochondrodysplasia, Symoens-
Combined malonic and 139406 Combined prosaposin deficiency
289504 Barnes-Gistelinck type
methylmalonic acidemia
Combined pulmonary fibrosis- Complex neurodevelopmental
Combined malonic and 300564 528084
289504 emphysema syndrome disorder
methylmalonic aciduria
166286 Comedo nevus of the palm 83452 Complex regional pain syndrome
Combined oxidative
254920 141276 Commissural facial cleft Complex regional pain syndrome
141061 Commissural lip fistula type 1
Combined oxidative
254925 3384 Common aorticopulmonary trunk Complex regional pain syndrome
3384 Common arterial trunk type 2
Combined oxidative
137908 1329 Common atrioventricular canal
phosphorylation defect type 5 Complication after organ
306644
Combined oxidative →288 Common hereditary elliptocytosis transplantation
254930 620 Common mesentery 268316 Complication in hemodialysis
phosphorylation defect type 7
Combined oxidative Common variable 458758 Composite hemangioendothelioma
319504 1572
phosphorylation defect type 8 immunodeficiency Composite Hodgkin and non-
168966
Hodgkin lymphoma
ORPHA ORPHA ORPHA
168966 Composite lymphoma 93583 Congenital ADAMTS-13 deficiency Congenital arteriovenous
353334
634 Comèl-Netherton syndrome Congenital adrenal hyperplasia due anastomoses of the retina
228165 Concentric demyelination 90791 to 3-beta-hydroxysteroid Congenital arteriovenous
353334
Conductive deafness with stapes dehydrogenase deficiency communication of the retina
383
fixation Congenital adrenal hyperplasia due 1195 Congenital atransferrinemia
90795
Conductive deafness-malformed to 11-beta-hydroxylase deficiency 60041 Congenital atrioventricular block
3216
external ear syndrome Congenital adrenal hyperplasia due Congenital auditory ossicle
90793
Conductive deafness-ptosis-skeletal to 17-alpha-hydroxylase deficiency 162526 malformation without external ear
3236
anomalies syndrome Congenital adrenal hyperplasia due abnormality
Conductive hearing loss-malformed 95699 to cytochrome P450 oxidoreductase Congenital benign spinal muscular
3216 1216
external ear syndrome deficiency atrophy with contractures
1871 Cone dystrophy Congenital adrenal hyperplasia due Congenital bilateral absence of vas
95699 48
Cone dystrophy with supernormal to cytochrome POR deficiency deferens
209932 Congenital agenesis of labia majora
rod electroretinogram Congenital bilateral agenesis of vas
48
Cone dystrophy with supernormal or scrotum-cerebellar malformation- deferens
209932 495875
rod ERG corneal dystrophy-facial Congenital bilateral aplasia of vas
dysmorphism syndrome 48
Cone dystrophy with supernormal deferens
209932 495879 Congenital agenesis of the scrotum
rod response 93177 Congenital bilateral megacalycosis
Cone dystrophy with supernormal 33355 Congenital aleukocytosis Congenital bile acid synthesis defect
209932 79301
scotopic electroretinogram Congenital alpha2-antiplasmin type 1
79
1872 Cone rod dystrophy deficiency Congenital bile acid synthesis defect
79303
Cone rod dystrophy-amelogenesis Congenital alveolar capillary type 2
1873 210122
imperfecta syndrome dysplasia Congenital bile acid synthesis defect
79302
221142 Confetti-like macular atrophy Congenital amegakaryocytic type 3
3319
440233 Congenital abducens nerve palsy thrombocytopenia Congenital bile acid synthesis defect
79095
Congenital absence of both forearm Congenital amegakaryocytic type 4
3319
294979 thrombocytopenic purpura 2292 Congenital bowing of long bones
and hand
Congenital absence of both lower
488586 Congenital amyoplasia Congenital brachyesophagus-
294981 86816 Congenital analbuminemia 514352 intrathoracic stomach-vertebral
leg and foot
289465 Congenital absence of fingerprints Congenital analgesia with anomalies syndrome
217399
294986 Congenital absence of foot hyperhidrosis Congenital brain dysgenesis due to
71278
294983 Congenital absence of hand Congenital analgesia with severe glutamine synthetase deficiency
453510
intellectual disability 2040 Congenital bronchobiliary fistula
294973 Congenital absence of humerus
95507 Congenital anomaly of hepatic vein Congenital bronchopulmonary
Congenital absence of lacrimal 3161
86815 Congenital anomaly of the tricuspid sequestration
puncta and salivary glands 99055
valve chordae 2908 Congenital bullous poikiloderma
Congenital absence of pain with
217399 Congenital anomaly of tricuspid Congenital cataract microcornea
hyperhidrosis 99055 289499
chordae tendineae with corneal opacity
Congenital absence of pain with
453510 Congenital anomaly of tricuspid Congenital cataract-deafness-severe
severe intellectual disability 99055 300313
tendinous chords developmental delay syndrome
495879 Congenital absence of the scrotum
Congenital anterior Congenital cataract-hearing loss-
Congenital absence of thigh and 91489
294977 megalophthalmia 300313 severe developmental delay
lower leg with foot present
95449 Congenital aortic valve insufficiency syndrome
93322 Congenital absence of tibia
3093 Congenital aortic valve stenosis Congenital cataract-hypertrophic
Congenital absence of ulna and
2879 Congenital aortopulmonary artery 1369 cardiomyopathy-mitochondrial
fibula 2037
fistula myopathy syndrome
Congenital absence of upper arm
294975 Congenital aortopulmonary septal Congenital cataract-microcephaly-
and forearm with hand present 2037
defect 464738 nevus flammeus simplex-severe
Congenital absence of uterus and intellectual disability syndrome
247775 2037 Congenital aortopulmonary window
vagina
Congenital aplasia and dysplasia of Congenital cataract-progressive
96269 Congenital absence of vagina 93322 330054 muscular hypotonia-deafness-
the tibia with intact fibula
Congenital absence/hypoplasia of developmental delay syndrome
973 Congenital aplasia of the extensor
fingers excluding thumb, unilateral Congenital cataract-progressive
muscles of the fingers and thumb
Congenital absence/hypoplasia of 2926 330054 muscular hypotonia-hearing loss-
294988 associated with generalized
thumb developmental delay syndrome
polyneuropathy
324353 Congenital achiasma
ORPHA ORPHA ORPHA
Congenital cataract-severe neonatal Congenital cystic adenomatous Congenital disorder of glycosylation
280840 244310
521432 hepatopathy-global developmental malformation of the lung type 2 type 1n
delay syndrome Congenital cystic adenomatous Congenital disorder of glycosylation
280847 263494
Congenital cataracts-facial malformation of the lung type 3 type 1o
48431
dysmorphism-neuropathy syndrome Congenital cystic adenomatous Congenital disorder of glycosylation
280854 280071
Congenital central alveolar malformation of the lung type 4 type 1p
661
hypoventilation syndrome Congenital cystic dilatation of the Congenital disorder of glycosylation
480501 324737
Congenital central alveolar biliary tract type 1q
99803 hypoventilation-Hirschsprung 2444 Congenital cystic disease of the lung Congenital disorder of glycosylation
300536
disease syndrome Congenital cystic disease of the lung type 1r
280832
Congenital cerebellar ataxia due to type 1 Congenital disorder of glycosylation
512260 324422
RNU12 mutation Congenital cystic disease of the lung type 1s
280840
831 Congenital cervical spinal stenosis type 2 Congenital disorder of glycosylation
319646
2345 Congenital cervical vertebral fusion Congenital cystic disease of the lung type 1t
280847
53689 Congenital chloride diarrhea type 3 Congenital disorder of glycosylation
329178
Congenital chronic diarrhea with 519384 Congenital cystic eye type 1u
329242
exudative enteropathy Congenital deficiency in alpha- Congenital disorder of glycosylation
168612 370921
Congenital chronic diarrhea with fetoprotein type 1w
329242
protein-losing enteropathy 2140 Congenital diaphragmatic hernia Congenital disorder of glycosylation
370924
264688 Congenital chylothorax Congenital disorder of glycosylation type 1x
488635
2505 Congenital circumferential skin folds due to PIGG deficiency Congenital disorder of glycosylation
370927
Congenital Claude-Bernard-Horner Congenital disorder of glycosylation type 1y
91413 3474
syndrome due to PIGL deficiency Congenital disorder of glycosylation
448010
440221 Congenital CNIII lesion Congenital disorder of glycosylation type 1z
83639
98686 Congenital CNIV palsy due to PIGM deficiency Congenital disorder of glycosylation
397941
440233 Congenital CNVI palsy Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
280633
Congenital communicating due to PIGN deficiency Congenital disorder of glycosylation
269505 79329
hydrocephalus Congenital disorder of glycosylation type 2a
369837
Congenital complete agenesis of due to PIGT deficiency Congenital disorder of glycosylation
99129 79330
pericardium Congenital disorder of glycosylation type 2b
79318
Congenital contractural type 1a Congenital disorder of glycosylation
115 79332
arachnodactyly Congenital disorder of glycosylation type 2d
79319
178382 Congenital convex foot type 1b Congenital disorder of glycosylation
79333
178382 Congenital convex pes valgus Congenital disorder of glycosylation type 2e
79320
53691 Congenital cornea plana type 1c Congenital disorder of glycosylation
238459
Congenital disorder of glycosylation type 2f
95491 Congenital coronary aneurysm 79321
type 1d Congenital disorder of glycosylation
Congenital coronary artery 263508
95491 Congenital disorder of glycosylation type 2g
aneurysm 79322
type 1e Congenital disorder of glycosylation
Congenital cystic adenomatoid 95428
2444 Congenital disorder of glycosylation type 2h
malformation of the lung 79323
type 1f Congenital disorder of glycosylation
280827 Congenital disorder of glycosylation type 2i
malformation of the lung type 0 79324
type 1g Congenital disorder of glycosylation
280832 Congenital disorder of glycosylation type 2j
type 1h Congenital disorder of glycosylation
280840 Congenital disorder of glycosylation type 2k
type 1i Congenital disorder of glycosylation
280847 Congenital disorder of glycosylation type 2l
type 1j Congenital disorder of glycosylation
280854 Congenital disorder of glycosylation type 2m
type 1k Congenital disorder of glycosylation
Congenital cystic adenomatous 468699
2444 Congenital disorder of glycosylation type 2n
malformation of the lung 79328
type 1L Congenital disorder of glycosylation
280827 Congenital disorder of glycosylation type 2o
type 1m Congenital disorder of glycosylation
280832 type 2p
malformation of the lung type 1
ORPHA ORPHA ORPHA
Congenital disorder of glycosylation Congenital disorder of glycosylation 157826 Congenital epulis
79318 244310
type Ia type In Congenital erosive and vesicular
231573
Congenital disorder of glycosylation Congenital disorder of glycosylation dermatosis
79319 263494
type Ib type Io Congenital erosive and vesicular
Congenital disorder of glycosylation Congenital disorder of glycosylation 231573 dermatosis with reticulated supple
79320 280071
type Ic type Ip scarring
Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital erythrocytosis due to
79321 324737 90042
type Id type Iq erythropoietin receptor mutation
Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital erythroderma-
79322 300536
type Ie type Ir 369992 hypotrichosis-recurrent infections-
Congenital disorder of glycosylation Congenital disorder of glycosylation multiple food allergies syndrome
79323 324422
type If type Is 79277 Congenital erythropoietic porphyria
Congenital disorder of glycosylation Congenital disorder of glycosylation 91358 Congenital esophageal diverticulum
79324 319646
type Ig type It 91358 Congenital esophageal pouch
Congenital disorder of glycosylation Congenital disorder of glycosylation 215 Congenital essential nyctalopia
79325 329178
type Ih type Iu 91 Congenital estrogen deficiency
Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital extrapulmonary
79326 370921 280811
type Ii type Iw sequestration
Congenital disorder of glycosylation Congenital disorder of glycosylation 99176 Congenital eyelid retraction
397941 370924
type II due to MAN1B1 deficiency type Ix 570 Congenital facial diplegia
Congenital disorder of glycosylation Congenital disorder of glycosylation 325 Congenital factor II deficiency
79329 370927
type IIa type Iy 326 Congenital factor V deficiency
Congenital disorder of glycosylation Congenital dyserythropoietic 327 Congenital factor VII deficiency
79330 293825
type IIb anemia due to KLF1 mutation
328 Congenital factor X deficiency
Congenital disorder of glycosylation Congenital dyserythropoietic
79332 98869 329 Congenital factor XI deficiency
type IId anemia type 1
330 Congenital factor XII deficiency
79333 98873 331 Congenital factor XIII deficiency
type IIe anemia type 2
Congenital disorder of glycosylation Congenital dyserythropoietic Congenital fiber-type disproportion
2020
238459 98870 myopathy
type IIf anemia type 3
335 Congenital fibrinogen deficiency
263508 293825 Congenital fibrosis of extraocular
type IIg anemia type 4 45358
Congenital disorder of glycosylation Congenital dyserythropoietic muscles
95428 98869 90045 Congenital folate malabsorption
type IIh anemia type I
Congenital disorder of glycosylation Congenital dyserythropoietic Congenital fourth cranial nerve
263487 98873 98686
type IIi anemia type II palsy
Congenital disorder of glycosylation Congenital dyserythropoietic 2345 Congenital fused cervical segments
263501 98870 Congenital generalized
type IIj anemia type III
Congenital disorder of glycosylation Congenital dyserythropoietic 476406 hypercontractile muscle stiffness
314667 293825 syndrome
type IIk anemia type IV
Congenital disorder of glycosylation Congenital dyserythropoietic Congenital generalized
464443 67044 2026
type IIL anemia with thombocytopenia hypertrichosis terminalis
Congenital disorder of glycosylation 70596 Congenital EBV infection Congenital generalized
356961 1023
type IIm 91491 Congenital ectropion uveae hypertrichosis, Ambras type
Congenital disorder of glycosylation Congenital elbow dislocation, Congenital generalized
468699 79495
295227 hypertrichosis, Macias-Flores type
type IIn bilateral
Congenital disorder of glycosylation 295232 Congenital genu flexum
468684 Congenital elbow dislocation,
295225 295229 Congenital genu recurvatum
type IIo unilateral
Congenital disorder of glycosylation Congenital enterocyte heparan 99095 Congenital Gerbode defect
466703 103910
type IIp sulfate deficiency 157826 Congenital gingival cell tumor
Congenital disorder of glycosylation 168601 Congenital enterokinase deficiency 98976 Congenital glaucoma
86309
type Ij Congenital enteropathy due to 157826 Congenital granular cell tumor
168601
Congenital disorder of glycosylation enteropeptidase deficiency Congenital Hageman factor
79327 330
type Ik 292 Congenital enterovirus infection deficiency
Congenital disorder of glycosylation Congenital Epstein-Barr virus 60041 Congenital heart block
91131 70596
type Im infection
ORPHA ORPHA ORPHA
Congenital heart defect-round face- Congenital ichthyosis- Congenital isolated growth
1355 231692
developmental delay syndrome 2271 microcephalus-quadriplegia hormone deficiency type III
Congenital hemidysplasia with syndrome 295034 Congenital knee dislocation
139 ichthyosiform nevus and limbs Congenital ichthyosis- Congenital labioscrotal agenesis-
2271
defects microcephalus-tetraplegia syndrome cerebellar malformation-corneal
495875
Congenital hereditary endothelial 631 Congenital IGHD dystrophy-facial dysmorphism
98975
dystrophy type 1 231662 Congenital IGHD type IA syndrome
Congenital hereditary endothelial 231671 Congenital IGHD type IB 53690 Congenital lactase deficiency
293603
dystrophy type 2 231679 Congenital IGHD type II Congenital lactic acidosis, Saguenay-
70472
Congenital hereditary endothelial 231692 Congenital IGHD type III Lac-Saint-Jean type
98975
dystrophy type I 306504 Congenital ILNEB syndrome 313 Congenital lamellar ichthyosis
Congenital hereditary endothelial Congenital indifference to pain with Congenital Langerhans cell
293603 217399 99872
dystrophy type II hyperhidrosis histiocytosis
Congenital hereditary facial palsy Congenital insensitivity to pain and 141124 Congenital laryngeal cyst
306530 64752
with variable deafness thermal analgesia 137932 Congenital laryngeal palsy
Congenital hereditary facial palsy Congenital insensitivity to pain with 2374 Congenital laryngeal web
306530 217399
with variable hearing loss hyperhidrosis 2373 Congenital laryngomalacia
Congenital hereditary facial Congenital insensitivity to pain with 1954 Congenital lethal erythroderma
306530
paralysis with variable deafness 391397 hyperhidrosis and gastrointestinal Congenital lethal myopathy,
Congenital hereditary facial 210163
dysfunction Compton-North type
306530 paralysis-variable deafness Congenital insensitivity to pain with
453510 Congenital lipoid adrenal
syndrome 90790
preserved temperature sensation hyperplasia due to STAR deficency
Congenital hereditary facial Congenital insensitivity to pain with Congenital lipomatous overgrowth-
306530 paralysis-variable hearing loss 453510
severe intellectual disability 140944 vascular malformation-epidermal
syndrome Congenital insensitivity to pain with nevi-skeletal anomaly syndrome
Congenital hereditary stromal 453510 severe non-progressive cognitive Congenital lipomatous overgrowth-
101068
dystrophy delay 140944 vascular malformation-epidermal
Congenital herpes simplex virus Congenital insensitivity to pain- nevi-spinal anomaly syndrome
293 642
infection anhidrosis syndrome 1928 Congenital lobar emphysema
Congenital high-molecular-weight Congenital interstitial lung disease- 1928 Congenital lobar hyperinflation
483
kininogen deficiency 306504 nephrotic syndrome-epidermolysis Congenital longitudinal deficiency of
91413 Congenital Horner syndrome bullosa syndrome 93323
the fibula
2185 Congenital hydrocephalus 388 Congenital intestinal aganglionosis Congenital longitudinal deficiency of
2190 Congenital hydronephrosis 93321
Congenital intrapulmonary the radius
280802
Congenital hypogonadotropic sequestration Congenital longitudinal deficiency of
478 93322
hypogonadism with anosmia Congenital intrauterine infection- the tibia
1229
294973 Congenital hypoplasia of humerus like syndrome Congenital longitudinal deficiency of
Congenital hypoplastic anemia, 93320
332 Congenital intrinsic factor deficiency the ulna
124
Blackfan-Diamond type 199296 Congenital isolated ACTH deficiency 2430 Congenital macroglossia
Congenital hypothalamic 631 Congenital isolated GH deficiency 95430 Congenital major airway collapse
→672
hamartoma syndrome Congenital isolated GH deficiency Congenital malabsorptive diarrhea
Congenital hypothyroidism due to 231662
226313 type IA 83620 due to paucity of enteroendocrine
maternal intake of antithyroid drugs Congenital isolated GH deficiency cells
Congenital hypothyroidism due to 231671
type IB 93109 Congenital megacalycosis
95715 transplacental passage of TSH- Congenital isolated GH deficiency 280671 Congenital megaconial myopathy
binding inhibitory antibodies 231679
type II Congenital membranous
1195 Congenital hypotransferrinemia Congenital isolated GH deficiency nephropathy due to fetomaternal
Congenital hypotrichosis-milia 231692 69063
→113 type III anti-neutral endopeptidase
syndrome Congenital isolated growth alloimmunization
88621 Congenital ichthyosis type 4 631
hormone deficiency 2665 Congenital mesoblastic nephroma
Congenital ichthyosis-intellectual Congenital isolated growth 621 Congenital methemoglobinemia
352333 disability-spastic quadriplegia 231662
hormone deficiency type IA Congenital microcephaly-severe
syndrome Congenital isolated growth 391376 encephalopathy-progressive
Congenital ichthyosis-intellectual 231671
hormone deficiency type IB cerebral atrophy syndrome
352333 disability-spastic tetraplegia Congenital isolated growth
231679
566 Congenital microcoria
syndrome hormone deficiency type II 199293 Congenital microgastria
ORPHA ORPHA ORPHA
2290 Congenital microvillous atrophy Congenital muscular dystrophy- Congenital or early infantile CACH
157713
2290 Congenital microvillus atrophy respiratory failure-skin syndrome
486815
566 Congenital miosis abnormalities-joint hyperlaxity Congenital osteogenesis imperfecta-
2772
99057 Congenital mitral stenosis syndrome microcephaly-cataracts syndrome
Congenital multicore myopathy 590 Congenital myasthenic syndrome 465 Congenital PAI-1 deficiency
98905 Congenital myasthenic syndromes
with external ophthalmoplegia 353327
2805 Congenital pancreatic agenesis
Congenital multiple café-au-lait with glycosylation defect 313906 Congenital pancreatic cyst
508512 macules-increased sister chromatid Congenital myopathy with excess of 139414 Congenital panfollicular nevus
98904
exchange syndrome thin filaments 264675 Congenital PAP
Congenital muscular dystrophy due Congenital myopathy with internal Congenital partial agenesis of
258 319160 99130
to laminin alpha2 deficiency nuclei and atypical cores pericardium
Congenital muscular dystrophy due Congenital myopathy with Congenital partial pulmonary
157973 424107 99124
to LMNA mutation myasthenic-like onset venous return anomaly
Congenital muscular dystrophy due 199329 Congenital myopathy, Paradas type 295036 Congenital patella dislocation
280671 to phosphatidylcholine biosynthesis Congenital myopathy-cleft palate- Congenital patent ductus arteriosus
168572 99072
defect malignant hyperthermia syndrome aneurysm
Congenital muscular dystrophy type Congenital myosclerosis, Löwenthal 332 Congenital pernicious anemia
258 289380
1A type 626 Congenital pigmented nevus
Congenital muscular dystrophy type 521438 Congenital NAD deficiency disorder
98893 Congenital plasminogen activator
1B Congenital narrowing of cervical 465
831 inhibitor type 1 deficiency
Congenital muscular dystrophy type spinal canal Congenital polycythemia due to
→370953 90042
1C 168486 Congenital NCL erythropoietin receptor mutation
Congenital muscular dystrophy type 306504 Congenital NEP syndrome 480531 Congenital portosystemic shunt
→370953
1D Congenital nephrosis-cerebral Congenital portosystemic venous
443988 480531
Congenital muscular dystrophy with ventriculomegaly syndrome fistula
370959
cerebellar involvement Congenital nephrotic syndrome, 124 Congenital PRCA
839
Congenital muscular dystrophy with Finnish type 749 Congenital prekallikrein deficiency
371007
hyperlaxity Congenital nephrotic syndrome- 83461 Congenital primary aphakia
Congenital muscular dystrophy with 306504 epidermolysis bullosa-pulmonary
34520 79452 Congenital primary lymphedema
integrin alpha-7 deficiency disease syndrome
617 Congenital primary megalo-ureter
Congenital muscular dystrophy with Congenital nephrotic syndrome-
370968 617 Congenital primary megaureter
intellectual disability 306504 interstitial lung disease-
Congenital muscular dystrophy with epidermolysis bullosa syndrome Congenital primary megaureter,
238654
329178 intellectual disability and severe Congenital neuronal ceroid nonrefluxing and unobstructed form
168486 Congenital primary megaureter,
epilepsy lipofuscinosis 238646
Congenital muscular dystrophy with Congenital neutropenia-bone obstructed form
34520 Congenital primary megaureter,
ITGA7 deficiency 369852 marrow fibrosis-nephromegaly 238650
Congenital muscular dystrophy with syndrome refluxing form
280671 mitochondrial structural Congenital neutropenia- 327 Congenital proconvertin deficiency
abnormalities 369852 myelofibrosis-nephromegaly Congenital progressive bone
Congenital muscular dystrophy syndrome marrow failure-B-cell
370980 508542
without intellectual disability Congenital non-bullous immunodeficiency-skeletal dysplasia
79394 syndrome
Congenital muscular dystrophy, ichthyosiform erythroderma
486815 Congenital pseudarthrosis of the
Davignon-Chauveau type Congenital non-communicating 66630
269510 clavicle
Congenital muscular dystrophy, hydrocephalus
Fukuyama type Congenital non-obstructive 295020
269505 femur
Congenital muscular dystrophy, hydrocephalus
Ullrich type Congenital nonprogressive spinal 295022
1216 fibula
Congenital muscular dystrophy- muscular atrophy
370980 dystroglycanopathy without Congenital nonprogressive Congenital pseudarthrosis of the
208513 157808
intellectual disability spinocerebellar ataxia limbs
Congenital muscular dystrophy- Congenital obstructive Congenital pseudarthrosis of the
269510 295024
1875 infantile cataract-hypogonadism hydrocephalus radius
syndrome 440221 Congenital oculomotor nerve palsy Congenital pseudarthrosis of the
295018
Congenital onychodysplasia of the tibia
79144
index fingers
ORPHA ORPHA ORPHA
Congenital pseudarthrosis of the Congenital scalp defects with distal Congenital sucrase-isomaltose
295026 974
ulna limb anomalies 306446 malabsorption with minimal starch
Congenital pseudoarthrosis of the Congenital scalp defects with distal tolerance
66630 974
clavicle limb reduction anomalies Congenital sucrase-isomaltose
Congenital pseudoarthrosis of the 495879 Congenital scrotal absence 306474 malabsorption with starch and
295020
femur 495879 Congenital scrotal agenesis lactose intolerance
Congenital pseudoarthrosis of the 2301 Congenital short bowel syndrome Congenital sucrase-isomaltose
295022
fibula 1987 Congenital short femur 306436 malabsorption with starch
Congenital pseudoarthrosis of the 93400 Congenital sialidosis type 2 intolerance
157808
limbs 260305 Congenital sideroblastic anemia Congenital sucrase-isomaltose
Congenital pseudoarthrosis of the 306462 malabsorption without starch
295024 Congenital sideroblastic anemia-B-
radius intolerance
cell immunodeficiency-periodic
Congenital pseudoarthrosis of the 369861 35122 Congenital sucrose intolerance
295018 fever-developmental delay
tibia syndrome Congenital sucrose intolerance with
306446
Congenital pseudoarthrosis of the Congenital smooth muscle minimal starch tolerance
295026 263435
ulna hamartoma Congenital sucrose intolerance with
306474
91411 Congenital ptosis 103908 Congenital sodium diarrhea starch and lactose intolerance
Congenital pulmonary airway Congenital spondyloepiphyseal Congenital sucrose intolerance with
2444 306436
malformation 94068 starch intolerance
dysplasia
Congenital pulmonary airway Congenital stationary night Congenital sucrose intolerance
280827 306462
malformation type 0 215 without starch intolerance
blindness
Congenital pulmonary airway Congenital stationary night Congenital sucrose-isomaltose
280832 75382 306486 malabsorption without sucrose
malformation type 1 blindness, Oguchi type
Congenital pulmonary airway intolerance
280840 Congenital stenosis of the cervical
malformation type 2 831 98686 Congenital superior oblique palsy
spine
Congenital pulmonary airway 3465 Congenital suprabulbar paresis
280847 Congenital stenosis of the inferior
malformation type 3 99122 99059 Congenital supravalvular mitral ring
caval vein
Congenital pulmonary airway Congenital stenosis of the inferior 98948 Congenital symblepharon
280854 99122
malformation type 4 vena cava 499009 Congenital syphilis
Congenital pulmonary alveolar 99122 Congenital stenosis of the IVC 99856 Congenital syringomyelia
264675
proteinosis Congenital stenosis or atresia of the Congenital systemic arteriovenous
99087 2039
Congenital pulmonary coronary ostium fistula
2414
lymphangiectasia 3197 Congenital stiff man syndrome Congenital temporomandibular
210576
3161 Congenital pulmonary sequestration Congenital stromal corneal joint ankylosis
Congenital pulmonary valve 101068 440221 Congenital third cranial nerve palsy
3189 dystrophy
stenosis 328 Congenital Stuart factor deficiency Congenital thrombotic
93583
Congenital pulmonary veins atresia 141121 Congenital subglottic stenosis thrombocytopenic purpura
3188
or stenosis Congenital sucrase-isomaltase Congenital total pulmonary venous
35122 99125
Congenital pulmonary venolobar deficiency return anomaly
185
syndrome Congenital sucrase-isomaltase 858 Congenital toxoplasmosis
124 Congenital pure red cell aplasia 306446 deficiency with minimal starch 141127 Congenital tracheal stenosis
3269 Congenital radioulnar synostosis tolerance 3347 Congenital tracheobronchomegaly
97598 Congenital renal artery stenosis Congenital sucrase-isomaltase 95430 Congenital tracheomalacia
97598 Congenital renovascular hypoplasia 306474 deficiency with starch and lactose 95459 Congenital tricuspid stenosis
Congenital reticular ichthyosiform intolerance 231013 Congenital trigeminal anesthesia
281190
erythroderma Congenital sucrase-isomaltase 210576 Congenital trismus
306436
Congenital retinal arteriovenous deficiency with starch intolerance 88629 Congenital tritanopia
353334
anastomoses Congenital sucrase-isomaltase 98686 Congenital trochlear nerve palsy
Congenital retinal arteriovenous 306462 deficiency without starch 93583 Congenital TTP
353334
communication intolerance 141099 Congenital tubular nose
91495 Congenital retinal detachment Congenital sucrase-isomaltase 92050 Congenital tufting enteropathy
190 Congenital retinal telangiectasia 306486 deficiency without sucrose
99060 Congenital unguarded mitral orifice
295000 Congenital ring constrictions intolerance
Congenital unguarded tricuspid
178382 Congenital rocker-bottom foot Congenital sucrase-isomaltose 95457
35122 orifice
290 Congenital rubella syndrome malabsorption
ORPHA ORPHA ORPHA
Congenital unilateral hypoplasia of Constitutional mismatch repair Corneal dystrophy-perceptive
1166 252202 1490
depressor anguli oris deficiency syndrome deafness syndrome
Congenital unilateral pulmonary 295000 Constriction band syndrome Corneal intraepithelial dyskeratosis-
2258
hypoplasia 295000 Constriction rings syndrome 352662 palmoplantar hyperkeratosis-
1864 Congenital valvular dysplasia 1303 Constrictive bronchiolitis laryngeal dyskeratosis syndrome
291 Congenital varicella syndrome Contiguous ABCD1 DXS1357E 199 Cornelia de Lange syndrome
369942
Congenital velopharyngeal deletion syndrome 3194 Corneodermatoosseous syndrome
2291
incompetence Continuous muscle fiber activity 2041 Coronaro-cardiac fistula
84142
Congenital vertebral-cardiac-renal syndrome 2041 Coronary arterial fistulas
521438
anomalies syndrome Continuous spikes and waves during 2041 Coronary arterial malformations
725
178382 Congenital vertical talus sleep Coronary artery intramyocardial
99085
295203 Congenital vertical talus, bilateral Continuous spikes and waves during course
725
295201 Congenital vertical talus, unilateral slow-wave sleep 99087 Coronary ostial stenosis or atresia
137932 Congenital vocal cord paralysis Contractures-developmental delay- 99118 Coronary sinus atresia
436003
Congenitally corrected transposition Pierre Robin syndrome 99117 Coronary sinus stenosis
216694
of the great arteries Contractures-ectodermal dysplasia- Corpus callosum agenesis-abnormal
1484 2508
Congenitally corrected transposition cleft lip/palate syndrome genitalia syndrome
216694
of the great vessels Contractures-webbed neck- Corpus callosum agenesis-
Congenitally short costocoracoid 314002 micrognathia-hypoplastic nipples 3338 blepharophimosis-Robin sequence
2391 syndrome
ligament syndrome
Congenitally uncorrected 1487 Cooks syndrome Corpus callosum agenesis-cataract-
860 1493
transposition of the great arteries 231214 Cooley anemia immunodeficiency syndrome
Congenitally uncorrected 1488 Cooper-Jabs syndrome Corpus callosum agenesis-
216729 transposition of the great arteries 1302 COP 52055 intellectual disability-coloboma-
with cardiac malformation 444092 COPA syndrome micrognathia syndrome
Congenitally uncorrected 397725 CoPAN Corpus callosum agenesis-
99042 transposition of the great arteries 2062 Copenhagen syndrome 459074 macrocephaly-hypertelorism
with coarctation 98984 Coppock-like cataract syndrome
Congenitally uncorrected COQ4-related neonatal Corpus callosum agenesis-
860 457185 1496
transposition of the great vessels encephalomyopathy neuronopathy syndrome
Congenitally uncorrected 99098 Cor triatriatum dexter Corpus callosum agenesis-
1553
216729 transposition of the great vessels polysyndactyly syndrome
99098 Cor triatriatum dextrum
with cardiac malformation Corpus callosum dysgenesis-
99099 Cor triatriatum sinister →3157
Congenitally uncorrected hypopituitarism syndrome
99099 Cor triatriatum sinistrum
99042 transposition of the great vessels Corpus callosum hypoplasia-
98990 Coralliform cataract
with coarctation 275543 retardation-adducted thumbs-
180118 Cordiform uterus
99827 Congo fever spasticity-hydrocephalus syndrome
99827 Congo hemorrhagic fever
366 Cori disease 2318 CORS
366 Cori-Forbes disease
Congo red-negative amyloidosis-like Cortical blindness-intellectual
97566 Corneal anesthesia-deafness- 1389
glomerulopathy 1051 disability-polydactyly syndrome
97231 Conjunctivitis lignosa intellectual disability syndrome Cortical dysgenesis with
280210 Connatal PMD Corneal dystrophy epithelial-short 300570 pontocerebellar hypoplasia due to
1661
stature syndrome TUBB3 mutation
Connective tissue disorder due to
300284 98962 Corneal dystrophy Groenouw type I
LH3 deficiency 268994 Cortical dysplasia, Taylor type
98969 Corneal dystrophy Groenouw type II
Connective tissue disorder due to Cortical dysplasia-focal epilepsy
300284 Corneal dystrophy of Bowman layer 163681
lysyl hydroxylase-3 deficiency 98961 syndrome
Connective tissue dysplasia, type 1 Cortical hyperostosis-syndactyly
→2909 Corneal dystrophy of Bowman layer 3152
Spellacy type 98960 syndrome
420794 Cono-spondylar dysplasia type 2 447788 Cortical visual impairment
140969 Conorenal syndrome Corneal dystrophy of Bowman layer 454887 Corticobasal syndrome
98961
type I Corticosteroid-binding globulin
Conotruncal anomaly face 199247
567 Corneal dystrophy of Bowman layer
syndrome 98960 deficiency
type II Corticosteroid-sensitive aseptic
Conradi-Hünermann-Happle 54251
35173 Corneal dystrophy with progressive
syndrome 1490 abscess syndrome
deafness Corticosterone methyloxidase
Constitutional megaloblastic anemia 99763
319651
with severe neurologic disease deficiency type I
ORPHA ORPHA ORPHA
96253 Corticotroph pituitary adenoma 147 CPS1 deficiency Craniofacial dysplasia-osteopenia
314555
141163 Cosack syndrome 147 CPS1D syndrome
67047 Costeff optic atrophy syndrome 156 CPT1A deficiency Craniofacial dysplasia-short stature-
67047 Costeff syndrome 157 CPT2 459061 ectodermal anomalies-intellectual
3071 Costello syndrome 228302 CPT2, adult-onset form disability syndrome
Costovertebral segmentation 228305 CPT2, hepatocardiomuscular form 1516 Craniofacial dyssynostosis
1507 Craniofacial-deafness-hand
defect-mesomelia syndrome 228308 CPT2, lethal systemic form 1529
93333 Cousin syndrome 228302 CPT2, myopathic form syndrome
1507 COVESDEM syndrome 228308 CPT2, neonatal form
293843 Craniofacial-ulnar-renal syndrome
101078 363705 Craniofaciofrontodigital syndrome
Cowchock syndrome 228305 CPT2, severe infantile form
201 Cowden disease 1520 Craniofrontonasal dysplasia
157 CPTII
201 Cowden syndrome 228302 CPTII, adult-onset form Craniofrontonasal dysplasia with
228390
99932 Cow's milk hypersensitivity alopecia and hypogonadism
228305 CPTII, hepatocardiomuscular form
COX deficiency, French-Canadian Craniofrontonasal dysplasia, Teebi
228308 CPTII, lethal systemic form 1519
70472 type
type 228302 CPTII, myopathic form
781 Coxiellosis Craniofrontonasal dysplasia-Poland
228308 CPTII, neonatal form 1521
anomaly syndrome
1508 Coxoauricular syndrome 228305 CPTII, severe infantile form 1520 Craniofrontonasal syndrome
1509 Coxopodopatellar syndrome 3286 CPVT 50814 Craniolenticulosutural dysplasia
254920 COXPD2 35173 CPXD Craniometadiaphyseal dysplasia,
254925 COXPD4 2081 Cramer-Niederdellmann syndrome 85184
wormian bone type
137908 COXPD5 202 Crandall syndrome 1522 Craniometaphyseal dysplasia
254930 COXPD7 1512 Crane-Heise syndrome 1524 Craniomicromelic syndrome
319504 COXPD8 97339 Cranial dural arteriovenous fistula 54595 Craniopharyngioma
319509 COXPD9 Cranial dural arteriovenous
97339 63260 Craniorachischisis
314637 COXPD10 malformations 157832 Craniorhiny
324535 COXPD11 268820 Cranial meningocele 1541 Craniosynostosis, Boston type
314051 COXPD12 98919 Cranial variant of GBS Craniosynostosis, Herrmann-Opitz
319514 COXPD13 Cranial variant of Guillain-Barré 2145
98919 type
319519 COXPD14 syndrome 1527 Craniosynostosis, Philadelphia type
319524 COXPD15 Cranio-cervical dystonia with 1541 Craniosynostosis, Warman type
352563 COXPD16 420485 laryngeal and upper-limb
Craniosynostosis-alopecia-brain
369913 COXPD17 involvement 1532
defect syndrome
420728 COXPD20 Cranio-facio-digito-genital
2115 Craniosynostosis-anal anomalies-
420733 COXPD21 syndrome 85199
porokeratosis syndrome
444013 COXPD23 1525 Cranio-osteoarthropathy
1530 Craniosynostosis-cataract syndrome
444458 COXPD24 2053 Craniocarpotarsal dysplasia
Craniosynostosis-congenital heart
447954 COXPD25 2053 Craniocarpotarsal dystrophy 2872 disease-intellectual disability
477684 7 Craniocerebellocardiac dysplasia syndrome
COXPD26
477774 COXPD27 1513 Craniodiaphyseal dysplasia Craniosynostosis-Dandy-Walker
466784 COXPD28 Craniodigital-intellectual disability 1538 malformation-hydrocephalus
1514
478029 COXPD29 syndrome syndrome
1515 Cranioectodermal dysplasia 284149 Craniosynostosis-dental anomalies
478042 COXPD30
2444 CPAM
85168 Craniofacial conodysplasia Craniosynostosis-dysmorphism-
→53271
1681 Craniofacial duplication brachydactyly syndrome
280827 CPAM type 0
280832 CPAM type 1 Craniofacial dysmorphism- Craniosynostosis-fibular aplasia
1533
1777 coloboma-corpus callosum agenesis syndrome
280840 CPAM type 2
syndrome Craniosynostosis-hydrocephalus-
280847 CPAM type 3
Craniofacial dysmorphism-skeletal 171839 Arnold-Chiari malformation type I-
280854 CPAM type 4 →1394 anomalies-intellectual disability radioulnar synostosis syndrome
475 CPD IV syndrome Craniosynostosis-intracranial
300564 CPFE 52054
Craniofacial dysostosis-diaphyseal calcifications syndrome
91359 CPI 1798
hyperplasia syndrome Craniosynostosis-midfacial
2016 CPLS syndrome Craniofacial dysostosis-genital, 1540 hypoplasia-foot abnormalities
2095
2807 CPP dental, cardiac anomalies syndrome syndrome
759 CPP
ORPHA ORPHA ORPHA
1528 Craniotelencephalic dysplasia Cryptophthalmos-syndactyly Cutaneous hemangioma with
2052 329324
Cranofacial dysostosis- syndrome muscle or bone atrophy
2095 hypertrichosis-hypoplasia of labia Cryptorchidism-arachnodactyly- Cutaneous hypersensitivity
1548 889
majora syndrome intellectual disability syndrome vasculitis
75373 CRAPB 1549 Cryptosporidiosis 178475 Cutaneous infectious botulism
275543 CRASH syndrome 98967 Crystalline stromal dystrophy 423717 Cutaneous larva migrans
184 CRBM 101068 CSCD 79455 Cutaneous local mastocytoma
71 CRD 443079 CSCR Cutaneous lymphangioma
79490
52503 Creatine transporter deficiency 35122 CSID circumscriptum
99854 Cree leukoencephalopathy 306446 CSID with minimal starch tolerance 79455 Cutaneous mastocytoma
504 Creeping myiasis CSID with starch and lactose 90395 Cutaneous mucinosis of infancy
306474
280569 Crescentic glomerulonephritis intolerance Cutaneous neuroendocrine
79140
90290 CREST syndrome 306436 CSID with starch intolerance carcinoma
281 Cri du chat syndrome 306462 CSID without starch intolerance 439729 Cutaneous PAN
281190 CRIE 306486 CSID without sucrose intolerance 439729 Cutaneous periarteritis nodosa
205 Crigler-Najjar syndrome 1465 CSS Cutaneous photosensitivity-lethal
2881
79234 Crigler-Najjar syndrome type 1 100008 CST3-related amyloidosis colitis syndrome
79235 Crigler-Najjar syndrome type 2 329217 CSVT 439729 Cutaneous polyarteritis nodosa
99827 Crimean hemorrhagic fever 725 CSWS 451607 Cutaneous pseudolymphoma
99827 Crimean-Congo hemorrhagic fever 725 CSWSS syndrome 889 Cutaneous small vessel vasculitis
499085 CRION 70591 CTEPH 178475 Cutaneous toxin-mediated botulism
1545 Crisponi syndrome CTLA-4 haploinsufficiency with Cutaneovisceral angiomatosis-
436159 464321
Criss-cross atrioventricular autoimmune infiltration disease thrombocytopenia syndrome
1461 Cutis gyrata-acanthosis nigricans-
relationships 247525 CTLN1 1555
1461 Criss-cross heart 247585 CTLN2 craniosynostosis syndrome
909 228285 Cutis laxa acquisita
891 Criswick-Schepens syndrome CTX
313838 CRMCC 158 CUD Cutis laxa with severe pulmonary,
221145 gastrointestinal and urinary
1380 Crome syndrome 420584 Culler-Jones syndrome
anomalies
2930 Cronkhite-Canada syndrome 3207 Curatolo-Cilio-Pessagno syndrome
Cutis laxa-corneal clouding-
2719 Cross syndrome 98960 Curly fiber corneal dystrophy 2962
2935 Crossed polysyndactyly Curly hair-acral keratoderma-caries
307766 171719 Cutis laxa-Marfanoid syndrome
439881 Croupous bronchitis syndrome
Cutis marmorata telangiectatica
207 Crouzon craniofacial dysostosis Curly hair-ankyloblepharon-nail 1556
1401 congenita
207 Crouzon disease dysplasia syndrome
Cutis verticis gyrata-intellectual
Crouzon syndrome-acanthosis 1525 Currarino disease →357225
93262 disability syndrome
nigricans syndrome Currarino idiopathic
1525 Cutis verticis gyrata-retinitis
93262 Crouzon-dermoskeletal syndrome osteoarthropathy
→357225 pigmentosa-neurosensory deafness
2905 Crow-Fukase syndrome 1552 Currarino syndrome syndrome
290 CRS 1552 Currarino triad Cutis verticis gyrata-retinitis
→247691 CRV Current pressure-sensitive →357225 pigmentosa-neurosensory hearing
640
411527 CRVO neuropathy loss syndrome
91139 Cryoglobulinemia type 1
952 Curry-Hall syndrome Cutis verticis gyrata-retinitis
1553 Curry-Jones syndrome →357225 pigmentosa-sensorineural deafness
91138 Cryoglobulinemic vasculitis
96253 Cushing disease syndrome
1546 Cryptococcosis
2032 Cryptogenic fibrosing alveolitis Cushing syndrome due to ectopic Cutis verticis gyrata-retinitis
99889
ACTH secretion →357225 pigmentosa-sensorineural hearing
Cryptogenic late-onset epileptic
163708 Cushing syndrome due to loss syndrome
spasms 189427
macronodular adrenal hyperplasia Cutis verticis gyrata-thyroid aplasia-
Cryptogenic multifocal ulcerous →357225
468635 Cutaneomeningospinal intellectual disability syndrome
stenosing enteritis 53721
angiomatosis 3327 Cutler-Bass-Romshe syndrome
1302 Cryptogenic organizing pneumonia
Cutaneous and mucosal venous 1572 CVID
Cryptomicrotia-brachydactyly 2451
1547 malformation 466670 Cyanide poisoning
syndrome
Cutaneous collagenous 306692 Cyanide-induced parkinsonism
Cryptomicrotia-brachydactyly- 280779
1547 vasculopathy 2686 Cyclic neutropenia
excess fingertip arch syndrome
ORPHA ORPHA ORPHA
Cyclosporine-induced 356978 D,L-2-HGA 2143 DBS/FOAR syndrome
228379
folliculodystrophy 356978 D,L-2-hydroxyglutaric acidemia 1775 DC
210 Cyclosporosis 356978 D,L-2-hydroxyglutaric aciduria 79456 DCM
79493 CYLD cutaneous syndrome 79315 D-2-HGA 66634 DCMA syndrome
171886 Cylindrical spirals myopathy 79315 D-2-hydroxyglutaric acidemia 75381 DCMD
90795 CYP11B1 deficiency 79315 D-2-hydroxyglutaric aciduria 1653 DD
Cyprus facial-neuromusculoskeletal D-glycerate dehydrogenase 99789 DD-I
2674 93599
syndrome deficiency 99791 DD-II
212 Cystathionase deficiency 941 D-glycerate kinase deficiency →231568 DDEB, Cockayne-Touraine type
Cystathione gamma-lyase deficiency 941 D-glyceric acidemia 231568 DDEB, generalized
212
syndrome 941 D-glyceric aciduria DDEB, Pasini and Cockayne-
231568
Cystathionine beta-synthase 2134 D-HUS Touraine types
394
deficiency 93581 D-HUS with anti-factor H antibodies →231568 DDEB, Pasini type
212 Cystathioninuria 93578 D-HUS with B factor anomaly 231568 DDEB-gen
100008 Cystatin amyloidosis 93575 D-HUS with C3 anomaly 99970 DDLS
400 Cystic echinococcosis 357008 D-HUS with DGKE deficiency 79499 DDOD syndrome
586 Cystic fibrosis 93579 D-HUS with H factor anomaly 52368 DDON syndrome
Cystic fibrosis-gastritis- 93580 D-HUS with I factor anomaly 300536 DDOST-CDG
2575
megaloblastic anemia syndrome 93576 D-HUS with MCP/CD46 anomaly DDX41-related hematologic
Cystic hamartoma of lung and 488647
2111 D-HUS with thrombomodulin malignancy predisposition syndrome
kidney 217023
anomaly 2962 De Barsy syndrome
79486 Cystic hygroma 1146 DA1 De Die-Smulders-Vles-Fryns
Cystic leukoencephalopathy without 1130
85136 1146 DA1A syndrome
megalencephaly 1598 De Grouchy syndrome
329457 DA5D
229 Cystic medial necrosis of aorta →782 De Hauwere syndrome
1495 Da Silva syndrome
1560 Cysticercosis
251515 DA10 →782 De Hauwere-Chitty syndrome
213 Cystinosis
458768 Dabska tumor 56304 De la Chapelle dysplasia
214 Cystinuria 393 De la Chapelle syndrome
141083 Dacryocele
93612 Cystinuria type A 3157 De Morsier syndrome
Dacryocystitis-osteopoikilosis
93613 Cystinuria type B 1562
syndrome →910 De Sanctis-Cacchione syndrome
214 Cystinuria-lysinuria syndrome 141083 Dacryocystocele 1570 De Smet-Fabry-Fryns syndrome
75381 Cystoid macular dystrophy 2186 Daentl-Townsend-Siegel syndrome 33355 De Vaal disease
472 Cystoisosporiasis 1563 Dahlberg syndrome 71277 De Vivo disease
Cystosarcoma phyllodes of the Dahlberg-Borer-Newcomer Deaf blind hypopigmentation
180261
breast 1563 3214
syndrome syndrome, Yemenite type
Cystosarcoma phyllodes of the 2181 Daish-Hardman-Lamont syndrome Deafness with labyrinthine aplasia,
498228
prostate 90024
275523 DALD microtia, and microdontia
Cytochrome C oxidase deficiency, Deafness-cataract-skeletal
70472 1183 Dancing eye syndrome
French-Canadian type 2663
1183 Dancing eye-dancing feet syndrome anomalies syndrome
Cytochrome oxidase deficiency, 3241 Deafness-craniofacial syndrome
70472 Dandy-Walker malformation-facial
Saguenay-Lac-Saint-Jean type →42775
hemangioma syndrome Deafness-dystonia-optic
Cytomegalic congenital adrenal 52368
95702 Dandy-Walker malformation- neuronopathy syndrome
hypoplasia 1566
postaxial polydactyly syndrome Deafness-ear malformation-facial
Cytomegalovirus disease in patients 3232
2091 Daneman-Davy-Mancer syndrome palsy syndrome
137698 with impaired cell mediated
34587 Danon disease Deafness-enamel hypoplasia-nail
immunity deemed at risk 3220
→1426 Dappled diaphyseal dysplasia defects syndrome
94087 Cytophagic histiocytic panniculitis
218 Darier disease Deafness-encephaloneuropathy-
Cytosolic phospholipase-A2 alpha 254898
316 Darier-Gottron disease obesity-valvulopathy syndrome
477787 deficiency associated bleeding
218 Darier-White disease Deafness-epiphyseal dysplasia-short
disorder 3218
stature syndrome
137678 Czech dysplasia, metatarsal type 390 Darling disease
Deafness-genital anomalies-
2736 Czeizel syndrome 293978 DAVID syndrome
3224 metacarpal and metatarsal
2917 Czeizel-Brooser syndrome 75565 Davies disease
synostosis syndrome
2437 Czeizel-Losonci syndrome 2806 Dawson's encephalitis Deafness-Hermann type
90038 D+HUS 1425 DBQD 3237
symphalangism syndrome
ORPHA ORPHA ORPHA
90646 Deafness-hypogonadism syndrome Degos genodermatosis "en 280325 Del(12)(p13.33)
315
94064 Deafness-infertility syndrome cocardes" 94063 Del(12)(q14)
Deafness-intellectual disability Dehydrated hereditary 289513 Del(12)(q15)(q21.1)
85321 3202
syndrome, Martin-Probst type stomatocytosis 412035 Del(13)(q12.3)
Deafness-lymphedema-leukemia 64748 Dejerine-Sottas syndrome 1587 Del(13)(q14)
3226
syndrome 2318 Dekaban-Arima syndrome 96168 Del(13)(q34)
Deafness-nephritis-ano-rectal 1627 Del (5)(q35) 261120 Del(14)(q11.2)
2408
malformation syndrome 1627 Del (5)(qter) 261144 Del(14)(q12)
3230 Deafness-oligodontia syndrome 401986 Del(1)(p31p32) 264200 Del(14)(q22q23)
Deafness-onychodystrophy- 456298 Del(1)(p35.2) 401935 Del(14)(q24.1q24.3)
79500 osteodystrophy-intellectual 1606 Del(1)(p36) 261183 Del(15)(q11.2)
disability syndrome 250989 Del(1)(q21) 199318 Del(15)(q13.3)
Deafness-onychodystrophy- 250999 Del(1)(q41q42) 261190 Del(15)(q14)
79500 osteodystrophy-intellectual 238769 Del(1)(q44) 94065 Del(15)(q24)
disability-seizures syndrome
293948 Del(1)p(21.3) 261211 Del(16)(p11.2p12.2)
Deafness-onychoosteodystrophy-
79500 363680 Del(2)(p13.2) 261236 Del(16)(p13.11)
261349 Del(2)(p15p16.1) 500055 Del(16)(p13.2)
Deafness-opticoacoustic nerve
→52368 163693 Del(2)(p21) 352629 Del(16)(q24.1)
atrophy-dementia syndrome
369881 Del(2)(p21) without cystinuria 261250 Del(16)(q24.3)
Deafness-pili torti-hypogonadism
123 228402 Del(2)(q23.1)
syndrome 97685 Del(17)(q11)
Deafness-skeletal dysplasia-coarse 1617 Del(2)(q24) 261265 Del(17)(q12)
3219 251014 Del(2)(q31.1)
face with full lips syndrome 363958 Del(17)(q21.31)
Deafness-skeletal dysplasia-lip 251019 Del(2)(q32) 261279 Del(17)(q23.1q23.2)
3219
granuloma syndrome 251019 Del(2)(q32q33) 254346 Del(19)(p13.12)
Deafness-small bowel diverticulosis- 251028 Del(2)(q33.1) 357001 Del(19)(p13.13)
3217
neuropathy syndrome 1001 Del(2)(q37) 217346 Del(19)(q13.11)
Deafness-thyroid hormone 1621 Del(3)(q13) 261295 Del(20)(p12.3)
3221
resistance syndrome 356947 Del(3)(q26q27) 313781 Del(20)(p13)
Deafness-vitiligo-achalasia 397695 Del(3)(q27.3) 444051 Del(20)(q11.2)
3239
syndrome 65286 Del(3)(q29) 261311 Del(20)(q13.33)
→2697 Deal-Barrat-Dillon syndrome 435638 Del(3)p(25.3) 261323 Del(21)(q22.11q22.12)
DEB, bullous dermolysis of the 238750 Del(4)(q21) 268261 Del(21)(q22.13q22.2)
79411
newborn 228384 Del(5)(q14.3) 96123 Del(22)
89843 DEB, pruriginosa 314655 Del(5)(q31.3) 261476 Del(X)(p21)
79411 DEB-BDN 251046 Del(6)(p22) 1643 Del(X)(p23)
89843 DEB-Pr 171829 Del(6)(q16) Delayed membranous cranial
79410 DEB-Pt 3034
251056 Del(6)(q25) ossification
DECR deficiency with 251061 Del(7)(q31) Delayed speech-facial asymmetry-
431361
hyperlysinemia 251066 Del(8)(p11.2) 3038 strabismus-ear lobe creases
99970 Dedifferentiated liposarcoma 251071 Del(8)(p23.1) syndrome
397587 Deep dermatophytosis 456298
284160 Del(8)(q21.11) Deletion 1p35.2
Defective adenosine triphosphate- 508488 Del(8)(q24.3) 1606 Deletion 1p36
31150
binding cassette transporter A1 1606 Deletion 1pter
2496 Del(8)q(13)
Defective biosynthesis of 1001 Deletion 2q37
75496 324313 Del(9)(p13)
proteodermatan sulfate
352665 Del(9)(q21) 281 Deletion 5p
Deficiency in anterior pituitary
401923 Del(9)(q31.1q31.3) 1627 Deletion 5q35
293978 function-variable immunodeficiency
495818 Del(9)(q33.3q34.11) 904 Deletion 7q11.23
syndrome
284169 Del(10)(p11.21p12.31) 284160 Deletion 8q21.11
404546 Deficiency of IL-36R antagonist
404546 Deficiency of IL-36Ra 276413 Del(10)(q22.3q23.3) 502 Deletion 8q24.1
893 Del(11)(p13) 508488 Deletion 8q24.3
Deficiency of plasma-membrane
158 444002 Del(11)(q22.2q22.3) 495818 Deletion 9q33.3q34.11
carnitine transporter
141330 Degner syndrome 2308 Del(11)(q23.3) 284169 Deletion 10p11.21p12.31
679 Degos disease 2308 Del(11)(qter) 276413 Deletion 10q22.3q23.3
313884 Del(12)(p12.1) 893 Deletion 11p13
ORPHA ORPHA ORPHA
94063 Deletion 12q14 Dentinogenesis imperfecta-short Devastating epileptic
289513 Deletion 12q15q21.1 stature-hearing loss-intellectual
71267 163703 encephalopathy in school-aged
1587 Deletion 13q14 disability syndrome children
1590 Deletion 13q32 77295 Dentoleukoencephalopathy Developmental and speech delay
313892
1600 Deletion 18q 220 Denys-Drash syndrome due to SOX5 deficiency
96123 Deletion 22 Der Kaloustian-Jarudi-Khoury Developmental delay due to 2-
3177
syndrome 79157 methylbutyryl-CoA dehydrogenase
1647 Delleman syndrome
Der Kaloustian-McIntosh-Silver deficiency
1647 Delleman-Oorthuys syndrome 3270
syndrome Developmental delay due to
Delta-1-pyrroline 5-carboxylate 289307
35664 369950 Der(8)t(8;12) ALDH6A1 deficiency
synthetase deficiency
96170 Der(22)t(11;22) syndrome Developmental delay due to
Delta-1-pyrroline-5-carboxylate
79101 36397 Dercum disease 289307 methylmalonate semialdehyde
dehydrogenase deficiency
1656 Dermatitis herpetiformis dehydrogenase deficiency
231237 Delta-beta-thalassemia
Dermato-cardio-skeletal syndrome, Developmental delay due to
219 Delta-sarcoglycanopathy 289307
→137834 MMSDH deficiency
168782 Dementia infantilis Borrone type
31112 Dermatofibrosarcoma protuberans Developmental delay with ASD and
97353 Dementia pugilistica 329195
gait instability
283 Demodicidosis 1659 Dermatoleukodystrophy
Developmental delay with autism
283 Demodicosis 221 Dermatomyositis
329195 spectrum disorder and gait
314451 Demons-Meigs syndrome 1657 Dermatoosteolysis, Kirghizian type instability
79134 DEND syndrome Dermatopathia pigmentosa Developmental delay-deafness
86920
reticularis 163988
Dendritic cell sarcoma not syndrome, Hildebrand type
86903 Dermatostomatitis, Stevens
otherwise specified 36426 Developmental delay-epilepsy-
Johnson type 79134
Dendritic cell, monocyte, B and NK neonatal diabetes syndrome
228423 79149 Dermochondrocorneal dystrophy
lymphoid deficiency Developmental delay-epilepsy-
99828 Dengue fever 141051 Dermoid cyst of the face 99989 neonatal diabetes syndrome,
99828 Dengue virus infection 141046 Dermoid cyst of the neck intermediate form
2109 Dennis-Fairhurst-Moore syndrome Dermoid or epidermoid cyst of the Developmental delay-facial
530033
93571 Dense deposit disease central nervous system 369891 dysmorphism syndrome due to
1660 Dermoodontodysplasia MED13L deficiency
1652 Dent disease
99688 Dermotrichic syndrome Developmental delay-hypotonia-
93622 Dent disease type 1 2101
93623 Dent disease type 2
1916 DES embryofetopathy extremities hypertrophy syndrome
1916 DES syndrome Developmental delay-short stature-
1652 Dent syndrome
1425 Desbuquois dysplasia 459061 dysmorphic features-sparse hair
Dental and eye anomalies-patent
1425 Desbuquois syndrome syndrome
2095 ductus arteriosus-normal
intelligence syndrome 163703 DESC syndrome Developmental malformations-
79107
228123 Desert fever deafness-dystonia syndrome
1077 Dental ankylosis
228123 209908 Developmental verbal dyspraxia
Dentatorubral pallidoluysian Desert rheumatism
101 71211 Devic disease
atrophy Desmin-related myofibrillar
98909 →3464 Devriendt-Legius-Fryns syndrome
101 Dentatorubropallidoluysian atrophy myopathy
1653 Dentin dysplasia Desmin-related myopathy with Devriendt-Vandenberghe-Fryns
84132 1014
Mallory body-like inclusions syndrome
Dentin dysplasia type 1 with
314721 98909 Desminopathy Dexamethasone-sensitive
microdontia and shape anomalies 403
873 Desmoid tumor hypertension
99789 Dentin dysplasia type I
873 Desmoid type fibromatosis 1666 Dextrocardia
99791 Dentin dysplasia type II
Desmoplastic infantile Dextrocardia-bronchiectasis-
Dentin dysplasia-sclerotic bones 251940 →244
99792 astrocytoma/ganglioglioma sinusitis syndrome
syndrome
83469 Desmoplastic small round cell tumor 99828 DF
49042 Dentinogenesis imperfecta
Desmoplastic/nodular 383 DFNX2
166260 Dentinogenesis imperfecta type 2 251863
medulloblastoma 31112 DFSP
166265 Dentinogenesis imperfecta type 3
35107 Desmosterolosis 49042 DGI
Dentinogenesis imperfecta without
49042 Desquamative interstitial 49042 DGI without OI
osteogenesis imperfecta 98852
Dentinogenesis imperfecta, Shields pneumonia 166260 DGI-2
166260 158014 Destombes-Rosaï-Dorfman disease 373 DGSX
type 2
319651 DHFR deficiency
Dentinogenesis imperfecta, Shields
166265 139518 dHMN1
type 3
ORPHA ORPHA ORPHA
139525 dHMN2 628 Diastrophic dwarfism Diffuse palmoplantar
139547 dHMN3 and dHMN4 628 Diastrophic dysplasia 86918 hyperkeratosis-acrocyanosis
139536 dHMN5 Diazoxide-resistant focal syndrome
98920 dHMN6 276603 hyperinsulinism due to Kir6.2 Diffuse palmoplantar keratoderma
369999
139589 dHMN7 deficiency with painful fissures
dHMN with upper motor neuron Diazoxide-resistant focal Diffuse palmoplantar keratoderma,
357043 2337
signs 276598 hyperinsulinism due to SUR1 Bothnian type
139552 dHMNJ deficiency Diffuse palmoplantar keratoderma-
86918
75376 DHRD 2195 Dicarboxylic aminoaciduria acrocyanosis syndrome
284343 DICER1 syndrome 171700 Diffuse panbronchiolitis
49042 DI
180086 Didelphys uterus 71274 Diffuse peritoneal leiomyomatosis
1914 di Sala syndrome
166260 DI-2 3463 DIDMOAD syndrome 66627 Diffuse-type GCT
370046 Didymosis aplasticosebacea 66627 Diffuse-type giant cell tumor
251940 DIA/DIG
1672 Diencephalic cachexia 567 DiGeorge sequence
Diabetes insipidus-diabetes
3463 mellitus-optic atrophy-deafness 1672 Diencephalic syndrome 567 DiGeorge syndrome
syndrome 1672 Diencephalic syndrome of childhood 238 Digestive duplication
Diabetes-hypogonadism-deafness- Diencephalic syndrome of Digestive duplication cyst of the
3464 1672 141071
intellectual disability syndrome emaciation tongue
1926 Diabetic embryopathy Diencephalic-mesencephalic Digital anomalies with short
319192
85446 Dialysis-related amyloidosis junction dysplasia 1305 palpebral fissures and atresia of
85446 Dialysis-related arthropathy 1916 Diethylstilbestrol embryofetopathy esophagus or duodenum
Dianzani autoimmune 1916 Diethylstilbestrol syndrome Digital anomalies with short
275523 391641 palpebral fissures and atresia of
lymphoproliferative disease 146 Differentiated thyroid carcinoma
90060 Diffuse alveolar hemorrhage esophagus or duodenum type 1
DIAPH1-related sensorineural
494444 deafness-thrombocytopenia 324 Diffuse angiokeratoma Digital anomalies-intellectual
352487
syndrome disability-short stature syndrome
251595 Diffuse astrocytoma
DIAPH1-related sensorineural Digital extensor muscle aplasia-
Diffuse cerebral and cerebellar 2926
494444 hearing loss-thrombocytopenia polyneuropathy
404437 atrophy-intractable seizures-
syndrome progressive microcephaly syndrome
31828 Digitalis poisoning
66637 →79500 Digitorenocerebral syndrome
Diaphanospondylodysostosis Diffuse cutaneous maculopapulous
79456 1146 Digitotalar dysmorphism
255182 Diaphorase deficiency mastocytosis
Diaphragmatic defect-limb 79456 Diffuse cutaneous mastocytosis 973 Digits 2-5 hypodactyly, unilateral
2141 973 Digits 2-5 oligodactyly, unilateral
deficiency-skull defect syndrome Diffuse cutaneous systemic
220393 319651 Dihydrofolate reductase deficiency
Diaphragmatic hernia-abnormal scleroderma
2059
face-distal limb anomalies syndrome 220393 Diffuse cutaneous systemic sclerosis Dihydrolipoamide acetyltransferase
Diaphragmatic hernia-exomphalos- Diffuse erythrodermic palmoplantar 79244 component of pyruvate
2143 2199 dehydrogenase complex deficiency
hypertelorism syndrome keratoderma, Voerner type
Diaphragmatic hernia- Diffuse erythrodermic palmoplantar Dihydrolipoamide dehydrogenase
2199 2394
2143 hypertelorism-myopia-deafness keratoderma, Vörner type deficiency
syndrome 702 Diffuse familial brain sclerosis Dihydrolipoyl dehydrogenase
255182
Diaphragmatic hernia-short bowel- 3165 Diffuse fasciitis with eosinophilia deficiency
527468
asplenia syndrome 497188 Diffuse intrinsic pontine glioma Dihydrolipoyllysine-residue
Diaphragmatic spinal muscular acetyltransferase component of
98920 Diffuse large B-cell lymphoma of the 79244
atrophy 300849 pyruvate dehydrogenase complex
central nervous system
Diaphragmatic spinal muscular deficiency
404521 Diffuse large B-cell lymphoma with
atrophy type 2 300888 Dihydropteridine reductase
chronic inflammation 226
Diaphyseal dysplasia-anemia deficiency
1802 Diffuse leptomeningeal
syndrome 252031 38874 Dihydropyrimidinase deficiency
melanocytosis
Diaphyseal medullary stenosis-bone Dihydropyrimidine dehydrogenase
85182 141209 Diffuse lymphangioma 1675
malignancy syndrome deficiency
141209 Diffuse lymphangiomatosis
Diaphyseal medullary stenosis- 38874 Dihydropyrimidinuria
141209 Diffuse lymphatic malformation
85182 malignant fibrous histiocytoma Dilatation of the left atrial
Diffuse malignant peritoneal 99102
syndrome 168811 appendage
mesothelioma
97282 Diarrheogenic islet cell tumor 99102 Dilatation of the left auricle
2123 Diffuse neonatal hemangiomatosis
1671 Diastematomyelia Dilatation of the right atrial
99101
appendage
ORPHA ORPHA ORPHA
99101 Dilatation of the right atrial auricle 536 Disseminated lupus erythematosus 254351 Distal del(7)(q11.23)
66634 Dilated cardiomyopathy with ataxia 141209 Disseminated lymphangioma 261222 Distal del(16)(p11.2)
Dilated cardiomyopathy- 141209 Disseminated lymphangiomatosis 319171 Distal del(17)(p13.1)
2229 hypergonadotropic hypogonadism Disseminated lymphatic 261257 Distal del(17)(p13.3 )
141209
syndrome malformation 261330 Distal del(22)(q11.2)
231111 DILE 228264 Disseminated nevus anelasticus 36367 Distal deletion 1q
Dimethylglycine dehydrogenase Disseminated peritoneal 280 Distal deletion 4p
243343 71274
deficiency leiomyomatosis 96145 Distal deletion 4q
→3157 Dincsoy-Salih-Patel syndrome Disseminated superficial actinic 96125 Distal deletion 6p
79152
314002 Dinno syndrome porokeratosis 96126 Distal deletion 7p
Dionisi-Vici-Sabetta-Gambarara 1620 Distal 3p deletion 1636 Distal deletion 7q36
1493
syndrome 1627 Distal 5q deletion 1642 Distal deletion 9p
497188 DIPG Distal 7q11.23 microdeletion
254351 96148 Distal deletion 10q
227 Diphallia syndrome 2308 Distal deletion 11q
1679 Diphtheria Distal 7q11.23 microduplication
261102 280325 Distal deletion 12p
128 Diphyllobothriasis syndrome
96149 Distal deletion 12q
1681 Diprosopia 1580 Distal 10p deletion
96168 Distal deletion 13q34
1681 Diprosopus 1590 Distal 13q deletion
96150 Distal deletion 14q
1756 Dipygus 1596 Distal 15q deletion syndrome
96129 Distal deletion 19p
210115 DIRA Distal 16p11.2 microdeletion
261222 96152 Distal deletion 20q
166291 Dirofilariasis syndrome
261102 Distal dup(7)(q11.23)
94064 DIS Distal 17p13.1 microdeletion
319171 261337 Distal dup(22)(q11.2)
35122 Disaccharide intolerance syndrome
293939 Distal dup(X)q(28)
Disaccharide intolerance with Distal 17p13.3 microdeletion
306446 261257 96069 Distal duplication 1p36
minimal starch tolerance syndrome
1597 Distal 17q deletion 96070 Distal duplication 2p
Disaccharide intolerance with starch
306474 96094 Distal duplication 2q
and lactose intolerance Distal 22q11.2 microdeletion
261330 96071 Distal duplication 3p
Disaccharide intolerance with starch syndrome
306436 Distal 22q11.2 microduplication 96072 Distal duplication 4p
intolerance 261337
Disaccharide intolerance without syndrome 96096 Distal duplication 4q
306462 63273 Distal ABD-filaminopathy 96097 Distal duplication 5q
starch intolerance
Disaccharide intolerance without 399096 Distal anoctaminopathy 1745 Distal duplication 6p
306486 96098
sucrose intolerance Distal anterior compartment Distal duplication 6q
178400
90281 Discoid lupus erythematosus myopathy 96074 Distal duplication 7p
Discordant ventriculoarterial and 1146 Distal arthrogryposis type 1 96100 Distal duplication 8q
216694
atrioventricular connections 2053 Distal arthrogryposis type 2A 96101 Distal duplication 9q
Discrete fibromuscular subaortic 1147 Distal arthrogryposis type 2B 96102 Distal duplication 10q
99052
stenosis 376 Distal arthrogryposis type 3 96103 Distal duplication 11q
Discrete fixed membranous 65720 Distal arthrogryposis type 4 96105 Distal duplication 13q
99051
subaortic stenosis 1154 Distal arthrogryposis type 5 1705 Distal duplication 14q
Discrete papular lichen Distal arthrogryposis type 5 without 1707 Distal duplication 15q
90394 329457
myxedematosus ophthalmoparesis 96078 Distal duplication 16p
Disease-associated transverse Distal arthrogryposis type 5 without 96106 Distal duplication 16q
139420 329457
myelitis ophthalmoplegia 3379 Distal duplication 17q
210272 Disembarkment syndrome 329457 Distal arthrogryposis type 5D 1716 Distal duplication 18q
Dislocation of the hip-dysmorphism 1144 Distal arthrogryposis type 6 1717 Distal duplication 19q
2412
syndrome 3377 Distal arthrogryposis type 7 96107 Distal duplication 20q
Disorder of sex development- 65743 Distal arthrogryposis type 8 96109 Distal duplication 22q
2983
intellectual disability syndrome 115 Distal arthrogryposis type 9 1762 Distal duplication Xq
345 Dissecting cellulitis of the scalp 251515 Distal arthrogryposis type 10 Distal hereditary motor neuropathy
54251 Disseminated aseptic abscesses 139518
376 Distal arthrogryposis type IIA type 1
Disseminated dermatofibrosis with 1154 Distal arthrogryposis type IIB Distal hereditary motor neuropathy
1306
osteopoikilosis 139525
65720 Distal arthrogryposis type IID type 2
Disseminated granulomatous Distal arthrogryposis with Distal hereditary motor neuropathy
397587
dermatophytosis 1154 139547
ophthalmoplegia type 3 and type 4
ORPHA ORPHA ORPHA
Distal hereditary motor neuropathy 399103 Distal nebulin myopathy 1916 Distilbene embryofetopathy
139536
type 5 Distal osteolysis-short stature- 1685 Distomatosis
2776
Distal hereditary motor neuropathy intellectual disability syndrome 1685 Distomiasis
98920
type 6 18 Distal renal tubular acidosis 404546 DITRA
Distal hereditary motor neuropathy →402041 Distal renal tubular acidosis type 1b 99099 Divided left atrium
139589
type 7 →402041 Distal renal tubular acidosis type 1c 99098 Divided right atrium
Distal hereditary motor neuropathy Distal renal tubular acidosis with 91131 DK1-CDG
139536 93610
type V anemia 3439 DK phocomelia syndrome
Distal hereditary motor neuropathy Distal spinal muscular atrophy type 1775 DKC
357043 139525
with upper motor neuron signs 2 300849 DLBCL of the CNS
Distal hereditary motor neuropathy, Distal spinal muscular atrophy type
139552 139547 300888 DLBCL with chronic inflammation
Jerash type 3 2394 DLD deficiency
139536 Distal HMN V Distal spinal muscular atrophy type
206580 252031 DLM
Distal limb deficiencies- 4
1307 273 DM1
micrognathia syndrome Distal spinal muscular atrophy type
36367 Distal monosomy 1q
139536 98896 DMD
5
243343 DMG dehydrogenase deficiency
1620 Distal monosomy 3p Distal spinal muscular atrophy with
139589 243343 DMGDH deficiency
280 Distal monosomy 4p vocal cord paralysis
96145 Distal monosomy 4q 3248 Distal symphalangism
602 DMRV
96125 Distal monosomy 6p 314588 Distal tetrasomy 15q DNA2-related mitochondrial DNA
352470
deletion syndrome
96126 Distal monosomy 7p 609 Distal titinopathy
99812 DNA ligase IV deficiency
254351 Distal monosomy 7q11.23 96069 Distal trisomy 1p36
DNAJB2-related Charcot-Marie-
1636 Distal monosomy 7q36 96070 Distal trisomy 2p 443950
Tooth disease type 2
1642 Distal monosomy 9p 96094 Distal trisomy 2q
443950 DNAJB2-related CMT2
1580 Distal monosomy 10p 96071 Distal trisomy 3p
251946 DNET
96148 Distal monosomy 10q 96072 Distal trisomy 4p
DNM1L-related encephalopathy due
2308 Distal monosomy 11q 96096 Distal trisomy 4q
330050 to mitochondrial and peroxisomal
280325 Distal monosomy 12p 96097 Distal trisomy 5q fission defect
96149 Distal monosomy 12q 1745 Distal trisomy 6p DNMT3A-related overgrowth
1590 Distal monosomy 13q 96098 Distal trisomy 6q 404443
syndrome
96150 Distal monosomy 14q 96074 Distal trisomy 7p 1215 DOA+
1596 Distal monosomy 15q 261102 Distal trisomy 7q11.23 91500 Dobrin syndrome
261222 Distal monosomy 16p11.2 96100 Distal trisomy 8q 3262 Dobrow syndrome
261257 Distal monosomy 17p13.3 96101 Distal trisomy 9q 447737 DOCK2 deficiency
1597 Distal monosomy 17q 96102 Distal trisomy 10q 217390 DOCK8 immunodeficiency syndrome
96129 Distal monosomy 19p13.3 96103 Distal trisomy 11q Dol-P-mannosyltransferase
79322
96152 Distal monosomy 20q 96105 Distal trisomy 13q deficiency
261330 Distal monosomy 22q11.2 1705 Distal trisomy 14q 91131 Dolichol kinase deficiency
59135 Distal myopathy type 1 1707 Distal trisomy 15q 2616 Dolichospondylic dysplasia
399086 Distal myopathy type 3 96078 Distal trisomy 16p Dolichyl-phosphate N-
Distal myopathy with anterior tibial 96106 Distal trisomy 16q 86309 acetylgalactosamine
178400
onset 3379 Distal trisomy 17q phosphotransferase deficiency
Distal myopathy with early 1716 Distal trisomy 18q 3427 DOLV
→178464
respiratory muscle involvement 1717 Distal trisomy 19q 231226 Dominant beta-thalassemia
Distal myopathy with posterior leg 96107 Distal trisomy 20q 75376 Dominant drusen
63273
and anterior hand involvement 96109 Distal trisomy 22q Dominant dystrophic epidermolysis
158676
Distal myopathy with rimmed 261337 Distal trisomy 22q11.2 bullosa, nails only
602
vacuoles 293939 Distal trisomy Xq28 Dominant hyaloideoretinal
898
Distal myopathy with vocal cord Distal Xq28 microduplication dystrophy of Wagner
600
weakness 293939 Dominant hypophosphatemia with
syndrome 244305
602 Distal myopathy, Nonaka type 98920 Distal-HMN type 6 nephrolithiasis or osteoporosis
488650 Distal myopathy, Tateyama type Dominant KATP hyperinsulinism
Distichiasis-congenital heart 276580
609 Distal myopathy, Udd type →33001 defects-peripheral vascular due to Kir6.2 deficiency
603 Distal myopathy, Welander type anomalies syndrome 75376 Dominant radial drusen
98911 Distal myotilinopathy
ORPHA ORPHA ORPHA
Donath-Landsteiner hemolytic Double outlet right ventricle, Fallot 139525 dSMA2
90035 99043
anemia type 139547 dSMA3
90035 Donath-Landsteiner syndrome Double tachycardia induced by 206580 dSMA4
3286
2143 Donnai-Barrow syndrome catecholamines 314485 dSMA5
508 Donohue syndrome Double uterus and obstructed 139557 DSMAX
3411
79500 DOOR syndrome hemivagina syndrome 83469 DSRCT
79500 DOORS syndrome Double uterus-hemivagina-renal DST-related epidermolysis bullosa
3411 412181
1942 Doose syndrome agenesis syndrome simplex
Dopa-responsive dystonia due to 8 Double Y syndrome 99789 DTDP1
70594 95474 Double-orifice mitral valve
sepiapterin reductase deficiency 99791 DTDP2
Dopamine beta-hydroxylase 79145 Dowling-Degos disease 2639 Du Pan syndrome
230
deficiency 870 Down syndrome Duane anomaly-myopathy-scoliosis
98907 Dorfman-Chanarin disease 75376 Doyne honeycomb retinal dystrophy 50817 syndrome
3426 DORV 86309 DPAGT1-CDG 233 Duane retraction syndrome
DORV with atrioventricular septal 314621 DPG-plus syndrome Duane retraction syndrome with
529574
423712 defect, pulmonary stenosis, 71274 DPL congenital deafness
heterotaxy 79322 DPM1-CDG 233 Duane syndrome
DORV with non-committed 329178 DPM2-CDG 93293 Duane-radial ray syndrome
99046
subpulmonary VSD 263494 DPM3-CDG Duane-radial ray syndrome due to a
DORV with subaortic or doubly 261647
423693 231 Dracunculiasis point mutation
committed VSD 231 Dracunculosis Duane-radial ray syndrome due to
DORV with subaortic or doubly 261638
220 Drash syndrome monosomy 20q13
99043 committed VSD with pulmonary 234 Dubin-Johnson syndrome
33069 Dravet syndrome
stenosis 234 Dubin-Sprinz disease
→79500 DRC syndrome
99045 DORV with subpulmonary VSD
70594 DRD due to SRD 235 Dubowitz syndrome
99043 DORV, Fallot type
130 Dream disease 98896 Duchenne muscular dystrophy
99045 DORV-TGA
139402 DRESS syndrome 280315 Duct-centric pancreatitis
869 Double A syndrome
101 DRPLA 1656 Duhring-Brocq disease
216694 Double discordance
233 DRS 293208 Dunbar syndrome
1464 Double inlet left ventricle
529574 DRS with deafness 2442 Duncan disease
141091 Double nose
18 dRTA 2348 Dunnigan syndrome
3427 Double outlet left ventricle
→402041 dRTA type 1b Duodenal and extrahepatic biliary
3426 Double outlet right ventricle →293864 atresia-hypoplastic pancreas-
→402041 dRTA type 1c
Double outlet right ventricle with intestinal malrotation syndrome
93610 dRTA with anemia
423712 atrioventricular septal defect, 1203
Drug or radiation exposure-related Duodenal atresia
pulmonary stenosis, heterotaxy 264978 261102 Dup7q11.23D
interstitial lung disease
Double outlet right ventricle with 250994 Dup(1)(q21.1)
→423693 doubly committed ventricular septal Drug rash with eosinophilia and
139402
systemic symptoms 313947 Dup(2)(q23.1)
defect
Drug reaction eosinophilic systemic 96095 Dup(3)(q26)
Double outlet right ventricle with 139402
99046 non-committed subpulmonary syndrome 96095 dup(3q) syndrome
ventricular septal defect 90037 Drug-induced AIHA 329802 Dup(5)(p13)

Double outlet right ventricle with Drug-induced autoimmune 228415 Dup(5)(q35)
90037
423693 subaortic or doubly committed hemolytic anemia 314034 Dup(7)(p22.1)
ventricular septal defect Drug-induced localized 96121 Dup(7)(q11.23)
90157
Double outlet right ventricle with lipodystrophy 459074 Dup(7)(q36.3)
subaortic or doubly committed 231111 Drug-induced lupus erythematosus 251076 Dup(8)(p23.1p23.1)
99043
ventricular septal defect with 464453 Drug-induced methemoglobinemia 228399 Dup(8)(q12)
pulmonary stenosis 251325 Drug-induced vasculitis 276422 Dup(10)(q22.3q23.3)
Double outlet right ventricle with Drug-related renal tubular 300305 Dup(11)p(15.4)
→423693 97368
subaortic ventricular septal defect dysgenesis 261229 Dup(14)(q11.2)
Double outlet right ventricle with 94086 Drummond syndrome 488280 Dup(14)q(32)
99045 subpulmonary ventricular septal 33069 DS 238446 Dup(15)(q11q13)
defect 99887 DS-AMKL 261204 Dup(16)(p11.2p12.2)
Double outlet right ventricle with 98920 dSMA1
99045 261243 Dup(16)(p13.11)
transposition of the great arteries
ORPHA ORPHA ORPHA
96078 Dup(16)(p13.3) DYNC1H1-related autosomal Dysraphism-cleft lip/palate-limb
2476
477817 Dup(17)(p11.2p12) 209341 dominant childhood-onset proximal reduction defects syndrome
217385 Dup(17)(p13.3) spinal muscular atrophy Dyssegmental dysplasia, Rolland-
156731
139474 Dup(17)(q11.2) DYNC1H1-related lower extremity- Desbuquois type
261272 Dup(17)(q12) 209341 predominant autosomal dominant Dyssegmental dysplasia, Silverman-
1865
217340 Dup(17)(q21.31) proximal spinal muscular atrophy Handmaker type
261290 Dup(17p) DYRK1A-related intellectual Dyssegmental dysplasia-glaucoma
464306 →156731
disability syndrome syndrome
447980 Dup(19)(p13.13)
DYRK1A-related intellectual 85198 Dysspondyloenchondromatosis
363659 Dup(20)(q11.2)
268261 disability syndrome due to 71517 Dystonia 12
261318 Dup(20p)
21q22.13q22.2 microdeletion →98808 Dystonia 14
1727 Dup(22)(q11) DYRK1A-related intellectual 210571 Dystonia 16
217377 Dup(X)(p11.22p11.23) 464311 disability syndrome due to a point
98811 Dystonia 18
284180 Dup(X)(p22) mutation
420492 Dystonia 23
284180 Dup(X)(p22.13p22.2) 296 Dyschondroplasia
420485 Dystonia 24
314389 Dup(X)(q12-q13.3) Dyschondrosteosis-nephritis
1765 329466 Dystonia 25
521258 Dup(X)(q25) syndrome
508093 Dystonia 29
261483 Dup(X)(q27.3q28) Dyschromatosis symmetrica
41 256 Dystonia musculorum deformans
261344 Duplication 1q hereditaria
412217 Dystonia-aphonia syndrome
1738 Duplication 4p Dyschromatosis universalis
241 Dystonia-parkinsonism, Paisan-Ruiz
1742 Duplication 5p hereditaria 199351
Dysembryoplastic neuroepithelial type
264450 Duplication 8p
251946 Dystonia-parkinsonism-
1752 Duplication 8q tumor 521406
1766 Dysequilibrium syndrome hypermanganesemia syndrome
96167 Duplication 8q/deletion 8p
293381 Dystrophia Helsinglandica
236 Duplication 9p Dysgerminomatous germ cell cancer
99912 293381 Dystrophia Smolandiensis
1699 Duplication 12p of the ovary
Dysharmonic skeletal maturation- Dystrophic epidermolysis bullosa
1715 Duplication 18p 79409
3010 muscular fiber disproportion inversa
1727 Duplication 22q11.2
syndrome Dystrophic epidermolysis bullosa
261318 Duplication of 20p 89843
1775 Dyskeratosis congenita pruriginosa
314621 Duplication of the pituitary gland 256 DYT1
Dyskeratosis congenita with
Duplication of the pituitary gland- 3088 99657 DYT2
314621 bilateral exudative retinopathy
plus syndrome 53351 DYT3
412 Dyslipidemia type 3
Duplication of the short arm of
1738
chromosome 4 Dysmorphism-cleft palate-loose skin 98805 DYT4
1779
syndrome 98808 DYT5a
1742 Dysmorphism-conductive hearing 101150 DYT5b
chromosome 5 289553
loss-heart defect syndrome 98806 DYT6
236 Dysmorphism-multiple structural 53583 DYT9
chromosome 9 1780
anomalies syndrome 71517 DYT12
1715 Dysmorphism-pectus carinatum- 98807 DYT13
chromosome 18 2104
joint laxity syndrome →98808 DYT14
237 Duplication of urethra
Dysmorphism-short stature- →36899 DYT15
284180 Duplication Xp22
2282 deafness-disorder of sex 210571 DYT16
3306 Duplication/inversion 15q11 development syndrome 98811 DYT18
97339 Dural sinus malformation
1782 Dysosteosclerosis
233 DURS 306734 DYT21
Dysostosis enchondralis 420492 DYT23
529574 DURS with deafness 800
metaepiphysaria, Catel-Hempel type
→331176 Dursun syndrome 420485 DYT24
1798 Dysostosis, Stanescu type
98984 Dusty cataract 329466 DYT25
99082 Dysphagia lusoria
3377 Dutch-Kentucky syndrome 508093 DYT29
1822 Dysplasia epiphysealis hemimelica
Dwarfism-stiff joint-ocular E3-deficient maple syrup urine
→969 Dysplasia of head of femur, Meyer 2394
abnormalities syndrome 168621 disease
type
→2616 Dwarfism-tall vertebrae syndrome 231249 E-beta-thalassemia
2204 Dysplastic cortical hyperostosis
1566 DWM with postaxial polydactyly 2970 Eagle-Barret syndrome
Dysplastic gangliocytoma of the
239 65285 40923 Eales disease
Dyggve-Melchior-Clausen disease cerebellum
2274 Dykes-Marks-Harper syndrome 2554 Ear-patella-short stature syndrome
325 Dysprothrombinemia
ORPHA ORPHA ORPHA
Early infantile epileptic 2828 Early-onset Parkinson disease 89838 EBS, autosomal recessive K14
1934
encephalopathy Early-onset parkinsonism- 79399 EBS, generalized intermediate
2379
Early infantile epileptic intellectual disability syndrome 79396 EBS, generalized severe
1934 encephalopathy with suppression- 98992 Early-onset partial cataract 412181 EBS-AR BP230
bursts 98993 Early-onset posterior polar cataract 412189 EBS-AR exophilin 5
1935 Early myoclonic encephalopathy Early-onset posterior subcapsular 89838 EBS-AR KRT14
441447
Early myoclonic encephalopathy cataract 79400 EBS-loc
1935
with suppression-bursts 256 Early-onset primary dystonia 257 EBS-MD
Early onset familial encephalopathy Early-onset prion disease with 158681 EBS-migr
530298 157941
with neuroserpin inclusion bodies prominent psychiatric features 79397 EBS-MP
98988 Early-onset anterior polar cataract Early-onset progressive diffuse brain 79401 EBS-O
Early-onset anterior subcapsular 496641 atrophy-microcephaly-muscle
98988 158684 EBS-PA
cataract weakness-optic atrophy syndrome
89839 EBSS
Early-onset autosomal dominant Early-onset progressive
1020 Ebstein anomaly of the tricuspid
Alzheimer disease 1943 encephalopathy with migrant 1880
valve
Early-onset benign childhood continuous myoclonus
98815 1880 Ebstein malformation
occipital epilepsy Early-onset progressive
313920 EBV-associated gastric carcinoma
Early-onset cataract with Y-shaped 500144 encephalopathy-hearing loss-pons
98985 289661 EBV-positive DLBCL of the elderly
suture opacities hypoplasia-brain atrophy syndrome
Early-onset cerebellar ataxia with Early-onset progressive 313920 EBVaGC
1177 494424
retained tendon reflexes 496756 encephalopathy-spastic ataxia-distal ECAA
Early-onset desmin-related spinal muscular atrophy syndrome 494424 ECCA
84132
myopathy Early-onset progressive Eccrine tumors-ectodermal
50944
Early-onset diabetes mellitus with 352654 neurodegeneration-blindness- dysplasia
1667
multiple epiphyseal dysplasia ataxia-spasticity syndrome Echinococcus multilocularis
284
210571 Early-onset dystonia parkinsonism →90340 Early-onset sarcoidosis infection
Early-onset epilepsy-intellectual 96369 Early-onset schizophrenia 199332 ECO syndrome
488635
disability-brain anomalies syndrome Early-onset seizures-distal limb →1896 ECP syndrome
Early-onset epileptic anomalies-facial dysmorphism- 99102 Ectasia of the left atrial appendage
505237
289266 encephalopathy and intellectual global developmental delay 99102 Ectasia of the left auricle
disability due to GRIN2A mutation syndrome 99101 Ectasia of the right atrial appendage
Early-onset epileptic 364055 Early-onset severe retinal dystrophy 99101 Ectasia of the right atrial auricle
encephalopathy-cortical blindness- Early-onset spastic ataxia-myoclonic 35737 Ectasic coloboma
411986 313772
intellectual disability-facial epilepsy-neuropathy syndrome Ectodermal dysplasia syndrome,
dysmorphism syndrome 98985 Early-onset sutural cataract →1071
Rapp-Hodgkin type
Early-onset familial autosomal 256 Early-onset torsion dystonia Ectodermal dysplasia with natal
1020 69083
dominant Alzheimer disease Early-onset vitelliform macular teeth, Turnpenny type
1243
Early-onset familial noncirrhotic dystrophy 1816 Ectodermal dysplasia, Berlin type
494348
portal hypertension 98890 Early-onset X-linked optic atrophy Ectodermal dysplasia, Rapp-Hodgkin
Early-onset generalized limb-onset →1071
256 98995 Early-onset zonular cataract type
dystonia 199343 EAST syndrome Ectodermal dysplasia,
Early-onset generalized torsion 1818
256 391320 East Texas bleeding disorder trichoodontoonychial type
dystonia 83594 Eastern equine encephalitis Ectodermal dysplasia-absent
Early-onset hypertension with →1658
88660 83594 Eastern equine encephalomyelitis dermatoglyphs syndrome
exacerbation in pregnancy Ectodermal dysplasia-acanthosis
1973 Eastman-Bixler syndrome
324290 Early-onset Lafora body disease 140936
166418 Eating epilepsy nigricans syndrome
441452 Early-onset lamellar cataract Ectodermal dysplasia-adrenal cyst
166418 Eating reflex epilepsy →2036
Early-onset multiple carboxylase syndrome
79242 166418 Eating seizures
deficiency Ectodermal dysplasia-blindness
86880 EATL 1806
Early-onset myopathy with fatal syndrome
289377 79406 EB progressive
cardiomyopathy Ectodermal dysplasia-cutaneous
Early-onset myopathy-areflexia-
79405 EBJ-I 247827
syndactyly syndrome
439212 respiratory distress-dysphagia 98956 EBMD
Ectodermal dysplasia-ectrodactyly-
syndrome 319218 Ebola fever 1897
macular dystrophy syndrome
91492 Early-onset non-syndromic cataract 319218 Ebola hemorrhagic fever
98991 Early-onset nuclear cataract 319218 Ebola virus disease
ORPHA ORPHA ORPHA
Ectodermal dysplasia-intellectual 99876 EDS VIIB 286 Ehlers-Danlos syndrome type IV
1812 disability-central nervous system 1901 EDS VIIC 198 Ehlers-Danlos syndrome type IX
malformation syndrome 75392 EDS VIII Ehlers-Danlos syndrome with
82004
Ectodermal dysplasia-sensorineural EDS with periventricular periventricular heterotopia
1883 82004
deafness syndrome heterotopia Ehlers-Danlos syndrome with
Ectodermal dysplasia-sensorineural EDS with progressive kyphoscoliosis, 75501 platelet dysfunction from fibronectin
1883 300179
hearing loss syndrome myopathy, and deafness abnormality
Ectodermal dysplasia-short stature EDS with progressive kyphoscoliosis, Ehlers-Danlos syndrome with
423454 300179
syndrome myopathy, and hearing loss 300179 progressive kyphoscoliosis,
Ectodermal dysplasia-skin fragility 75501 EDS X myopathy, and deafness
158668
syndrome 230851 EDS, cardiac valvular type Ehlers-Danlos syndrome with
Ectodermal dysplasia-syndactyly 287 EDS, classic type 300179 progressive kyphoscoliosis,
247820
syndrome 230839 EDS, classic-like type myopathy, and hearing loss
448270 Ectopia cordis EDS, kyphoscoliotic and hearing loss Ehlers-Danlos syndrome,
1899
1885 Ectopia lentis syndrome 300179 arthrochalasia type
type
Ectopia lentis-chorioretinal 1900 EDS, kyphoscoliotic type Ehlers-Danlos syndrome,
1884 1899
dystrophy-myopia syndrome arthrochalasis type
2953 EDS, musculocontractural type
99889 Ectopic ACTH secreting tumor Ehlers-Danlos syndrome, cardiac
1900 EDS, oculoscoliotic type 230851
Ectopic aldosterone-producing valvular type
231632 75496 EDS, progeroid type
tumor Ehlers-Danlos syndrome, classic
157965 EDS, spondylocheirodysplastic type 287
99889 Ectopic Cushing syndrome type
230845 EDS, vascular-like type
95496 Ectopic neurohypophysis Ehlers-Danlos syndrome, classic-like
230857 EDS/OI syndrome 230839
2440 Ectrodactyly type
247820 EDSS Ehlers-Danlos syndrome,
→1896 Ectrodactyly-cleft palate syndrome 1901
247820 EDSS1 dermatosparaxis type
Ectrodactyly-ectodermal dysplasia
→1896 247827 EDSS2 Ehlers-Danlos syndrome,
without clefting syndrome 75501
178464 Edström Myopathy fibronectin-deficient
Ectrodactyly-ectodermal dysplasia-
1896 3380 Edwards syndrome Ehlers-Danlos syndrome,
cleft lip/palate syndrome 75501
2668 Edwards-Patton-Dilly syndrome fibronectinemic type
1892 Ectrodactyly-polydactyly syndrome
322 EEC Ehlers-Danlos syndrome,
Ectrodactyly-spina bifida- 285
1894 1896 EEC syndrome hypermobile type
cardiopathy syndrome
Ectropion inferior-cleft lip and/or EEC syndrome without cleft Ehlers-Danlos syndrome,
→1896 285
1997 lip/palate hypermobility type
palate syndrome
Eczema-thrombocytopenia- 1897 EEM syndrome Ehlers-Danlos syndrome, Kosho
2953
906 357131 Effort subclavian vein thrombosis type
immunodeficiency syndrome
98813 EDA-ID 101039 EFMR Ehlers-Danlos syndrome,
300179
2070 EGE kyphoscoliotic and deafness type
247827 EDCS
183 EGPA Ehlers-Danlos syndrome,
293936 EDICT syndrome 300179
319218 EHF kyphoscoliotic and hearing loss type
1895 Edinburgh malformation syndrome
312 EHK Ehlers-Danlos syndrome,
93308 EDM1 1900
kyphoscoliotic type
93307 EDM4 Ehlers-Danlos syndrome due to
230839 Ehlers-Danlos syndrome,
93311 EDM5 tenascin-X deficiency 2953
musculocontractural type
261 EDMD 90309 Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome,
98853 EDMD2 90318 Ehlers-Danlos syndrome type 2 1900
oculoscoliotic type
98855 285 Ehlers-Danlos syndrome type 3
EDMD3 Ehlers-Danlos syndrome,
286 Ehlers-Danlos syndrome type 4 75392
90309 EDS I periodontitis type
90318 EDS II 75497 Ehlers-Danlos syndrome type 5 Ehlers-Danlos syndrome, progeroid
1900 Ehlers-Danlos syndrome type 6A 75496
285 EDS III type
286 EDS IV 1899 Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome,
99875 157965
198 EDS IX Ehlers-Danlos syndrome type 7A spondylocheirodysplastic type
286 EDS type 4 99876 Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome, vascular
286
75497 EDS V 1901 Ehlers-Danlos syndrome type 7C type
1900 EDS VIA 75392 Ehlers-Danlos syndrome type 8 Ehlers-Danlos syndrome, vascular-
230845
1899 EDS VII 198 Ehlers-Danlos syndrome type 9 like type
99875 EDS VIIA 75501 Ehlers-Danlos syndrome type 10
ORPHA ORPHA ORPHA
Ehlers-Danlos/osteogenesis Encephalopathy due to prosaposin 83620 Enteric anendocrinosis
230857 139406
imperfecta syndrome deficiency Enteric duplication cyst of the
141071
1902 Ehrlichiosis Encephalopathy due to sulfite tongue
833
820 Ehrmann-Sneddon syndrome oxidase deficiency Enteropathy-associated T-cell
86880
312 EI Encephalopathy due to urocanase lymphoma
210128
1934 EIEE deficiency 86880 Enteropathy-type T-cell lymphoma
165991 EIHI Encephalopathy with basal ganglia 85438 Enthesitis-related JIA
51
79106 Eiken syndrome calcification Enthesitis-related juvenile
85438
97214 Eisenmenger syndrome Encephalopathy with intracranial idiopathic arthritis
51 calcification and chronic 529828 Enzalutamide toxicity
476096 EKC syndrome
lymphocytosis of cerebrospinal fluid 1177 EOCA
317 EKV
Encephalopathy-hypertrophic 1177 EOCARR
228240 Elastoderma
319678 cardiomyopathy-renal tubular
228243 Elastofibroma dorsi 370334 EOE
disease syndrome
228254 Elastoma 73247 EoE
Encephalopathy-intracerebral
79148 Elastosis perforans serpiginosa 1020 EOFAD
1261 calcification-retinal degeneration
228236 Elastotic striae 289377 EOMFC
syndrome
33445 Elejalde disease 3205 Encephalotrigeminal angiomatosis
168829 EOPPC
221054 Elejalde syndrome 449566 Eosinophilic angiocentric fibrosis
296 Enchondromatosis
289 Ellis Van Creveld syndrome 901 Eosinophilic cellulitis
99075 Encircling double aortic arch
2516 Ellis-Yale-Winter syndrome 83315 Endemic typhus
402035 Eosinophilic colitis
1299 Elsahy-Waters syndrome 75566 Eosinophilic endocarditis
2022 Endocardial fibroelastosis
1997 Elsching syndrome 2070 Eosinophilic enteritis
Endocrine-cerebro-osteodysplasia
199332 73247 Eosinophilic esophagitis
96170 Emanuel syndrome syndrome
439212 EMARDD 876 Endodermal sinus tumor 3165 Eosinophilic fasciitis
1942 EMAS Endodermal sinus tumor of central 2070 Eosinophilic gastroenteritis
252006 2070
3226 Emberger syndrome nervous system Eosinophilic gastroenterocolitis
180226 Embryonal carcinoma 252006 Endodermal sinus tumor of CNS 99871 Eosinophilic granuloma
Embryonal carcinoma of the central 98974 Endoepithelial corneal dystrophy Eosinophilic granulomatosis with
48736 183
nervous system Endometrial adenoid cystic polyangiitis
213741 482 Eosinophilic lymphogranuloma
48736 Embryonal carcinoma of the CNS carcinoma
99757 Embryonal rhabdomyosarcoma 213726 Endometrial capillary carcinoma 364055 EOSRD
178315 Embryonal sarcoma of the liver Endometrial squamous cell 256 EOTD
213716
Embryonary disorganization carcinoma 251880 Ependymoblastoma
1664
syndrome 213711 Endometrial stromal sarcoma 251636 Ependymoma
Embryonic testicular regression Endometrial transitional cell 99169 Epiblepharon
983 213746
syndrome carcinoma Epibronchial right pulmonary vein
185
139431 EMEA Endometrial undifferentiated syndrome
213721
261 Emery-Dreifuss muscular dystrophy carcinoma Epibulbar lipodermoid-preauricular
231742
1927 Emery-Nelson syndrome 454723 Endometrioid carcinoma of ovary appendage-polythelia syndrome
EMILIN-1-related connective tissue 137820 Endometriosis outside pelvis 83314 Epidemic typhus
485418
disease 2022 Endomyocardial fibroelastosis 35125 Epidermal hamartoma syndrome
1031 Enamel-renal syndrome 199323 Endophthalmitis 35125 Epidermal nevus syndrome
83600 Encephalitis lethargica Endophthalmitis Epidermal nevus with epidermolytic
209959 497737
Encephaloclastic proliferative phacoanaphylactica hyperkeratosis
221126
vasculopathy 2790 Endosteal hyperostosis, Worth type 302 Epidermodysplasia verruciformis
Encephalocraniocutaneous Endosteal sclerosis-cerebellar 46487 Epidermolysis bullosa acquisita
2396 85186
lipomatosis hypoplasia syndrome 79404 Epidermolysis bullosa letalis
3205 Encephalofacial angiomatosis Endothelial dystrophy-iris Epidermolysis bullosa simplex due
412181
Encephalopathy due to GLUT1 293936 hypoplasia-congenital cataract- to BP230 deficiency
71277
deficiency stromal thinning syndrome Epidermolysis bullosa simplex due
412189
Encephalopathy due to 137602 Endotheliitis to exophilin 5 deficiency
527276 mitochondrial and peroxisomal 1937 Eng-Strom syndrome Epidermolysis bullosa simplex due
158668
fission defect 53540 Enhanced S-cone syndrome to plakophilin deficiency
60015 Enlarged parietal foramina
ORPHA ORPHA ORPHA
Epidermolysis bullosa simplex of Epilepsy-dementia-amelogenesis 2199 EPPK
79400 1946
palms and soles imperfecta syndrome →182050 Epstein syndrome
Epidermolysis bullosa simplex Epilepsy-microcephaly-skeletal Epstein-Barr virus-associated gastric
89839 1948 313920
superficialis dysplasia syndrome carcinoma
Epidermolysis bullosa simplex with 1951 Epilepsy-telangiectasia syndrome Epstein-Barr virus-positive diffuse
2325 289661
anodontia/hypodontia Epileptic encephalopathy with large B-cell lymphoma of the elderly
Epidermolysis bullosa simplex with 725 continuous spike-and-wave during 85438 ERA
158681
circinate migratory erythema slow sleep 35687 Erdheim-Chester disease
Epidermolysis bullosa simplex with Epileptic encephalopathy with 293381 ERED
79397 353217
mottled pigmentation global cerebral demyelination 999 Ermine phenotype
Epidermolysis bullosa simplex with 79238 Epimerase deficiency galactosemia 160148 Eroded polypoid hyperplasia
257
muscular dystrophy 1819 Epimetaphyseal skeletal dysplasia Eronen-Somer-Gustafsson
Epidermolysis bullosa simplex with Epiphyseal dysplasia-hearing loss- →79500
158684 1825 syndrome
pyloric atresia dysmorphism syndrome Erosive pustular dermatosis of the
Epidermolysis bullosa simplex, Epiphyseal dysplasia-microcephaly- 222
89838 1824 scalp
autosomal recessive K14 nystagmus syndrome 228264 Eruptive collagenoma
Epidermolysis bullosa simplex, Epiphyseal stippling syndrome- 90000 Erythema elevatum diutinum
79396 1952
Dowling-Meara type osteoclastic hyperplasia syndrome Erythema exsudativum multiforme
Epidermolysis bullosa simplex, Epiphysial-vertebral-ear dysplasia- 502499
79399 majus
generalized intermediate 496751 nose-plus associated findings 502499 Erythema multiforme major
Epidermolysis bullosa simplex, syndrome
79396 502499 Erythema multiforme majus
generalized severe 399329 Epiphysiolysis of the hip
231031 Erythema palmare hereditarium
Epidermolysis bullosa simplex, 399329 Epiphysiolysis of the upper femur
79396 Erythrocyte epimerase deficiency
herpetiformis 649 Episkopi blindness 308473
galactosemia
Epidermolysis bullosa simplex, 37612 Episodic ataxia type 1
79399 Erythrocyte galactose epimerase
Köbner type 97 Episodic ataxia type 2 308473
deficiency
Epidermolysis bullosa simplex, 79135 Episodic ataxia type 3
79399 308473 Erythrocyte GALE deficiency
Koebner type 79136 Episodic ataxia type 4
Epidermolysis bullosa simplex, Ogna
308473 Erythrocyte GALE-D
79401 211067 Episodic ataxia type 5 Erythrocyte lactate transporter
type 171690
209967 Episodic ataxia type 6 defect
Epidermolysis bullosa simplex,
79400 209970 Episodic ataxia type 7 Erythrocyte UDP-galactose-4-
Weber-Cockayne type 308473
401953 Episodic ataxia type 8 epimerase deficiency
497737 Epidermolytic epidermal nevus
37612 Episodic ataxia with myokymia Erythrocyte uridine diphosphate
312 Epidermolytic hyperkeratosis 308473
401953 Episodic ataxia with slurred speech galactose-4-epimerase deficiency
497737 Epidermolytic nevus
Episodic ataxia-vertigo-tinnitus- 314 Erythroderma desquamativum
Epidermolytic palmoplantar 79135
2199 myokymia syndrome 79394 Erythrodermic ichthyosis
keratoderma
53583 Episodic choreoathetosis/spasticity 247165 Erythroedema polyneuritis
Epidermolytic palmoplantar
2199 29822 Episodic spontaneous hypothermia 315 Erythrokeratoderma ''en cocardes''
keratoderma of Voerner
Epidermolytic palmoplantar Epithelial basement membrane Erythrokeratodermia progressiva
98956 316
2199 dystrophy symmetrica
keratoderma of Vörner
Epidermolytic verrucous epidermal Epithelial recurrent erosion 317 Erythrokeratodermia variabilis
293381
497737 dystrophy Erythrokeratodermia variabilis,
nevus 317
141077 Epignathus
157791 Epithelioid hemangioendothelioma Mendes da Costa type
293202 Epithelioid sarcoma 1955 Erythrokeratodermia with ataxia
65683 Epilepsy due to FCD
254698 Epithelioid trophoblastic tumor Erythrokeratodermia-
86911 Epilepsy with myoclonic absences 476096
Epilepsy with myoclonic-astatic
91414 Epithelioma calcificans of Malherbe cardiomyopathy syndrome
1942 501 EPM2 50943 Erythrokeratolysis hiemalis
seizures
Epilepsy with myoclonic-atonic 263516 EPM3 318 Erythroleukemia
1942 163696
seizures EPM4 1956 Erythromelalgia
Epilepsy-ataxia-sensorineural 402082 EPM5 Erythropoietic uroporphyria
199343 280379
deafness-tubulopathy syndrome 280620 EPM6 associated with myeloid malignancy
Epilepsy-cortical blindness- 435438 EPM7 99977 ESCC
411986 intellectual disability-facial 424027 EPM8 2405 Escher-Hirt syndrome
dysmorphism syndrome 457265 EPM9 2990 Escobar syndrome
79278 EPP
ORPHA ORPHA ORPHA
Escobar variant multiple pterygium 322 Exstrophy-epispadias complex 324 Fabry disease
2990
syndrome Extensive peripapillary myelinated 1969 FACES syndrome
440724
99976 Esophageal adenocarcinoma nerve fibers Facial asymmetry-temporal seizures
1167
1199 Esophageal atresia Extensor tendons of finger syndrome
3294
Esophageal carcinoma, salivary anomalies 141051 Facial dermoid cyst
418945
gland type External auditory canal 480701 Facial diplegia with paresthesias
141074
100047 Esophageal duplication cyst aplasia/hypoplasia Facial diplegia with paresthesias
480701
99977 Esophageal epidermoid carcinoma External auditory canal atresia- variant of GBS
506136 Esophageal NEN 3023 vertical talus-hypertelorism Facial diplegia with paresthesias
syndrome 480701
Esophageal neuroendocrine variant of Guillain-Barré syndrome
506136
neoplasm External auditory canal Facial dysmorphism-ambiguous
141074
Esophageal squamous cell stenosis/atresia →3157 genitalia-hypopituitarism-short
99977 EXTL3-related neuro-immuno-
carcinoma 508533 limbs syndrome
91138 Essential cryoglobulinemia skeletal dysplasia syndrome Facial dysmorphism-anorexia-
2056 Essential fructosuria Extra-adrenal aldosterone- 1969 cachexia-eye and skin anomalies
231632
98981 Essential iris atrophy producing tumor syndrome
91138 Essential mixed cryoglobulinemia Extra-ovarian primary peritoneal Facial dysmorphism-developmental
168829
carcinoma delay-behavioral abnormalities
2843 Essential pentosuria 284169
494424 Extracranial carotid artery aneurysm syndrome due to 10p11.21p12.31
3318 Essential thrombocythemia
66662 Extracutaneous mastocytoma microdeletion
3318 Essential thrombocytosis
182127 Extragonadal germinoma Facial dysmorphism-developmental
1957 Esthesioneuroblastoma
883 Extragonadal teratoma delay-behavioral abnormalities
785 Estrogen resistance syndrome 466950
Extralobar congenital syndrome due to WAC point
3318 ET 280811 mutation
bronchopulmonary sequestration
31826 Ethylene glycol poisoning Facial dysmorphism-
Extralobar congenital pulmonary
51188 Ethylmalonic encephalopathy 280811 352712 immunodeficiency-livedo-short
sequestration
983 ETRS 2800 Extramammary Paget disease stature syndrome
86880 ETTL 86850 Extramedullary myeloid tumor Facial dysmorphism-intellectual
2892 Euhidrotic ectodermal dysplasia 2588 disability-short stature-hearing loss
Extramedullary soft tissue
99172 Euryblepharon 100022 syndrome
plasmacytoma
466682 Euthyroid Graves ophthalmopathy Facial dysmorphism-lens
100002 Extraneural perineurioma
466682 Euthyroid Graves orbitopathy dislocation-anterior segment
Extranodal marginal zone B-cell 412022
1959 Evans syndrome 52417 abnormalities-nontraumatic
lymphoma conjunctive cysts syndrome
Evans syndrome associated with Extranodal nasal NK/T cell
444463 86879 Facial dysmorphism-lens
primary immunodeficiency lymphoma dislocation-anterior segment
496751 EVEN-plus syndrome 370334 Extraosseous Ewing sarcoma 412022
abnormalities-spontaneous filtering
2990 EVMPS 370334 Extraosseous Ewing tumor blebs syndrome
251927 EVN 137820 Extrapelvic endometriosis Facial dysmorphism-macrocephaly-
319 Ewing sarcoma 370334 Extraskeletal Ewing sarcoma 1970 myopia-Dandy-Walker malformation
Exercise-induced delayed-onset 370334 Extraskeletal Ewing tumor syndrome
99734
myotonia Extraskeletal myxoid Facial dysmorphism-shawl scrotum-
Exercise-induced hyperinsulinemic 209916 1778
165991 chondrosarcoma joint laxity syndrome
hypoglycemia Extrasystoles-short stature- 221083 Facial hemispasm
165991 Exercise-induced hyperinsulinism 1964 hyperpigmentation-microcephaly Facial nerve palsy due to herpes
Exercise-induced malignant 3020
466650 syndrome zoster infection
hyperthermia 251927 Extraventricular neurocytoma 3020 Facial nerve palsy due to VZV
466650 Exertional heat stroke Eye defects-arachnodactyly- 3020 Facial nerve paralysis due to VZV
2725
289586 Exfoliative ichthyosis cardiopathy syndrome Facial onset sensory and motor
→955 85162
Exner syndrome Eyebrow duplication-syndactyly neuronopathy
3172
Exomphalos-macroglossia-gigantism syndrome 3237 Facio-audio-symphalangism
116
syndrome Eyelid myoclonia with and without Facio-digito-genital syndrome,
139431 1974
Exostoses-anetodermia- absences Kuwait type
1962
brachydactyly type E syndrome 35909 F5F8D 1300 Facio-genito-popliteal syndrome
Expanded spectrum hemifacial 957 F syndrome Facio-oculo-acoustico-renal
374 2143
microsomia 95 FA syndrome
ORPHA ORPHA ORPHA
Facio-pharyngo-glossal diplegia with Familial amyloid nephropathy due Familial calcium pyrophosphate
238269 1416
2048 automatic-voluntary movement to apolipoprotein A-II variant deposition
dissociation Familial amyloid nephropathy due 1768 Familial caudal dysgenesis
93562
Facio-pharyngo-glosso-masticatory to fibrinogen A alpha-chain variant 464760 Familial cavitary optic disc anomaly
2048
diplegia Familial amyloid nephropathy due 1416 Familial CC
93561
374 Facioauriculovertebral dysplasia to lysozyme variant 169085 Familial CD8 deficiency
1973 Faciocardiorenal syndrome Familial amyloid polyneuropathy Familial cerebelloretinal
85447 892
3071 Faciocutaneoskeletal syndrome type I angiomatosis
915 Faciodigitogenital syndrome Familial amyloid polyneuropathy Familial cerebral amyloid
85448 439254
915 Faciogenital dysplasia type IV angiopathy
269 Facioscapulohumeral dystrophy Familial amyloid polyneuropathy, 221061 Familial cerebral cavernoma
85447
Facioscapulohumeral muscular Portuguese-Swedish-Japanese type Familial cerebral cavernous
269 85448 Familial amyloidosis, Finnish type 221061
dystrophy malformation
269 Facioscapulohumeral myopathy 228277 Familial anetoderma 231160 Familial cerebral saccular aneurysm
98879 Factor IX deficiency 199279 Familial angiolipomatosis 36382 Familial cervical artery dissection
220436 Factor V Quebec 229 Familial aortic dissection 481662 Familial Chilblain lupus
98878 Factor VIII deficiency 425 Familial apoA-I deficiency 1428 Familial chondromalacia patellae
300359 FACU 309020 Familial apoC-II deficiency 444490 Familial chylomicronemia syndrome
306550 FADD-related immunodeficiency Familial apolipoprotein C-II 404560 Familial Clark nevus syndrome
309020
994 FADS deficiency Familial clubfoot due to 5q31
1416 Familial articular chondrocalcinosis 293144
882 FAH deficiency microdeletion
329308 FAHN Familial articular hypermobility Familial clubfoot due to
2295 238578
→168569 Faisalabad histiocytosis syndrome 17q23.1q23.2 microduplication
Fallot complex-intellectual
334 Familial atrial fibrillation Familial clubfoot due to PITX1 point
3304 293150
615 Familial atrial myxoma mutation
disability-growth delay syndrome
86814 FAME Familial atrial tachyarrhythmia- Familial clubfoot with or without
199315
397685 Familial hyperprolactinemia
436242 infra-Hisian cardiac conduction associated lower limb anomalies
disease 464760 Familial CODA
86 Familial abdominal aortic aneurysm
300359 Familial atypical cold urticaria Familial cold autoinflammatory
Familial acute necrotizing 47045
88619 404560 Familial atypical mole syndrome syndrome
encephalopathy
733 Familial adenomatous polyposis Familial atypical multiple mole Familial cold autoinflammatory
404560 247868
melanoma syndrome syndrome type 2
Familial adenomatous polyposis due
261584 Familial atypical multiple mole 47045 Familial cold urticaria
to 5q22.2 microdeletion
404560 melanoma-pancreatic carcinoma Familial cold urticaria with common
Familial adenomatous polyposis due 300359
261584 syndrome variable immunodeficiency
to del(5)(q22.2)
Familial avascular necrosis of 440437 Familial colorectal cancer Type X
Familial adenomatous polyposis due 86820
261584 femoral head Familial congenital controlateral
to monosomy 5q22.2 238722
402075 Familial BAV synkinesia
404 Familial adrenal adenoma
2398 Familial benign cervical lipomatosis 95494 Familial congenital hypopituitarism
Familial adrenal hypoplasia with
95700 2841 Familial benign chronic pemphigus Familial congenital mirror
absent pituitary LH 238722
1551 Familial benign copper deficiency movements
Familial adrenal hypoplasia with
95700 363989 Familial benign flecked retina
absent pituitary luteinizing hormone Familial congenital nasolacrimal
451612
405 Familial benign hypercalcemia duct obstruction
Familial adrenal hypoplasia,
95700 Familial benign hypocalciuric Familial congenital palsy of
miniature type 405 91498
86814 Familial adult myoclonic epilepsy hypercalcemia trochlear nerve
1551 Familial benign hypocupremia Familial cortical myoclonic tremor
Familial advanced sleep-phase 86814
164736 231160 Familial berry aneurysm and epilepsy
syndrome
98880 Familial afibrinogenemia 402075 Familial bicuspid aortic valve 319189 Familial cortical myoclonus
1020 221061 Familial brain cavernous angioma 1416 Familial CPPD
Familial Alzheimer disease
Familial Alzheimer-like prion Familial brain cavernous 85453 Familial cutaneous amyloidosis
280397 221061
disease hemangioma 53296 Familial cutaneous collagenoma
319465 Familial AML 227535 Familial breast cancer Familial cutaneous telangiectasia
85450 Familial amyloid nephropathy 227535 Familial breast carcinoma 313846 and oropharyngeal cancer
Familial amyloid nephropathy due 36382 Familial CAD predisposition syndrome
93560 211 Familial cylindromatosis
to apolipoprotein A-I variant 2678 Familial café-au-lait spots
ORPHA ORPHA ORPHA
97345 Familial dementia, British type 251274 Familial hyperaldosteronism type 3 Familial idiopathic steroid-resistant
97346 Familial dementia, Danish type 403 Familial hyperaldosteronism type I 93213 nephrotic syndrome with focal
313808 Familial dementia, Neumann type 404 Familial hyperaldosteronism type II segmental hyalinosis
1799 Familial developmental dysphasia 251274 Familial hyperaldosteronism type III Familial idiopathic steroid-resistant
26106 Familial diffuse cancer of stomach 79506 Familial hyperalphalipoproteinemia 93216 nephrotic syndrome with minimal
26106 Familial diffuse gastric cancer Familial hypercalcemia- changes
Familial digital arthropathy- 94086 nephrocalcinosis-indicanuria Familial infantile bilateral striatal
225154
85169 necrosis
brachydactyly syndrome
238475 300373 Familial infantile gigantism
Familial dilated cardiomyopathy Familial hypercholanemia
300751 with conduction defect due to LMNA 178345 Familial hyperestrogenism Familial infantile gigantism due to a
448348
mutation 757 Familial hyperkalemic hypertension point mutation
18 Familial distal primary acidosis Familial hyperkalemic periodic Familial infantile gigantism due to
448372
682 dup(X)q(26)
85192 Familial doughnut lesions of skull paralysis
75376 Familial drusen Familial hyperlipoproteinemia type Familial infantile gigantism due to
448372
412 Xq26 microduplication
1764 Familial dysautonomia 3
Familial hyperphosphatemic Familial infantile hypercalcemia
Familial dysautonomia with
314381
tumoral
300547 with suppressed intact parathyroid
contractures 306661
calcinosis/Hyperphosphatemic hormone
412 Familial dysbetalipoproteinemia
hyperostosis syndrome 352582 Familial infantile myoclonic epilepsy
98881 Familial dysfibrinogenemia
682 Familial hyperPP Familial infantile myoclonus
Familial dyskinesia and facial 352582
324588 Familial hyperreninemic epilepsy
myokymia 99763
hypoaldosteronism type 1 Familial infantile striatonigral
404560 Familial dysplastic nevus syndrome 225154
Familial hyperreninemic degeneration
1885 Familial ectopia lentis 99764 Familial infantile striatonigral
2762 Familial ectopic ossification hypoaldosteronism type 2 225154
Familial hyperthyroidism due to necrosis
Familial encephalopathy with 424 508410 Familial intestinal malrotation
85110 mutations in TSH receptor
neuroserpin inclusion bodies Familial intestinal polyatresia
391384 Familial episodic pain syndrome
427 Familial hypoaldosteronism 2300
425 Familial hypoalphalipoproteinemia syndrome
Familial episodic pain syndrome Familial intracranial saccular
391392 with predominantly lower limb Familial hypocalciuric 231160
405 aneurysm
involvement hypercalcemia
Familial hypocalciuric Familial isolated arrhythmogenic
Familial episodic pain syndrome 217656
93372 right ventricular cardiomyopathy
391389 with predominantly upper body hypercalcemia type 1
involvement 217656
101049 right ventricular dysplasia
90042 Familial erythrocytosis hypercalcemia type 2
85195 Familial expansile osteolysis 217656
101050 ventricular cardiomyopathy
891 Familial exudative vitreoretinopathy hypercalcemia type 3
248408 Familial hypodysfibrinogenemia Familial isolated arrhythmogenic
Familial focal epilepsy with variable 293899 ventricular cardiomyopathy,
98820 101041 Familial hypofibrinogenemia
foci biventricular form
Familial fundic gland polyposis with 440 Familial hypospadias
314022 Familial isolated arrhythmogenic
gastric cancer 225154 Familial IBSN 293910 ventricular cardiomyopathy, classic
Familial gastric type 1 Familial idiopathic dilatation of the form
464756 1677
neuroendocrine tumor right atrium Familial isolated arrhythmogenic
231040 Familial generalized lentiginosis Familial idiopathic nephrotic 293888 ventricular cardiomyopathy, left
656
Familial gestational syndrome dominant form
99819 Familial idiopathic steroid-resistant
hyperthyroidism 656 Familial isolated arrhythmogenic
361 Familial glucocorticoid deficiency nephrotic syndrome 293910 ventricular cardiomyopathy, right
Familial gonadotropin-independent Familial idiopathic steroid-resistant dominant form
3000 93214 nephrotic syndrome with diffuse
male-limited sexual precocity Familial isolated arrhythmogenic
mesangial proliferation 217656
Familial hemophagocytic ventricular dysplasia
540 Familial idiopathic steroid-resistant
lymphohistiocytosis Familial isolated arrhythmogenic
93217 nephrotic syndrome with diffuse 293899 ventricular dysplasia, biventricular
32960 Familial Hibernian fever
mesangial sclerosis form
540 Familial HLH
Familial idiopathic steroid-resistant Familial isolated arrhythmogenic
2604 Familial hollow visceral myopathy 293910
93213 nephrotic syndrome with focal ventricular dysplasia, classic form
403 Familial hyperaldosteronism type 1 segmental glomerulosclerosis
404 Familial hyperaldosteronism type 2
ORPHA ORPHA ORPHA
Familial isolated arrhythmogenic 309015 Familial lipoprotein lipase deficiency Familial osteonecrosis of the
86820
293888 ventricular dysplasia, left dominant 75381 Familial macular edema femoral head
form Familial male-limited precocious Familial osteosclerosis with
3000
Familial isolated arrhythmogenic puberty 79093 abnormalities of the nervous system
293910 ventricular dysplasia, right dominant Familial median cleft of the upper and meninges
form 401942
and lower lips 1333 Familial pancreatic cancer
217656 Familial isolated ARVC 342 Familial Mediterranean fever 1333 Familial pancreatic carcinoma
217656 Familial isolated ARVD Familial medullary thyroid Familial papillary or follicular
99361 319487
Familial isolated clinodactyly of carcinoma thyroid carcinoma
295014
fingers 35858 Familial megaloblastic anemia Familial papillary thyroid carcinoma
97290
101351 Familial isolated congenital asplenia 618 Familial melanoma with renal papillary neoplasia
Familial isolated dilated Familial mesial temporal lobe 99877 Familial parathyroid adenoma
154 165805
cardiomyopathy epilepsy with febrile seizures 99878 Familial parathyroids hyperplasia
Familial isolated 741 Familial mitral valve prolapse 97 Familial paroxysmal ataxia
99879
hyperparathyroidism 276399 Familial MNG Familial paroxysmal kinesigenic
98809
Familial isolated 495930 Familial monosomy 7 syndrome dyskinesia
2238
hypoparathyroidism 99361 Familial MTC 342 Familial paroxysmal polyserositis
Familial isolated 276399 Familial multinodular goiter Familial paroxysmal ventricular
2239 hypoparathyroidism due to agenesis 228140
Familial multiple coagulation factor fibrillation, non Brugada type
of parathyroid gland 35909 Familial partial epilepsy with
deficiency 98820
Familial isolated variable foci
Familial multiple cutaneous
189466 hypoparathyroidism due to impaired 523 79084 Familial partial lipodystrophy type 1
leiomyomas
PTH secretion 2348 Familial partial lipodystrophy type 2
338 Familial multiple fibrofolliculoma
314777 Familial isolated pituitary adenoma
Familial multiple lentigines 79083 Familial partial lipodystrophy type 3
Familial isolated prolactin receptor 500
Familial partial lipodystrophy,
397685 syndrome 2348
deficiency Dunnigan type
Familial multiple lentigines
Familial isolated restrictive Familial partial lipodystrophy,
75249 231040 syndrome without systemic
cardiomyopathy 79084
involvement Köbberling type
411788 Familial isolated trichomegaly
199276 Familial multiple lipomatosis 466729 Familial patent arterial duct
Familial isolated vitamin E 871 Familial PCCD
96 263662 Familial multiple meningioma
deficiency
624 Familial multiple nevi flammei 93333 Familial pelvis-scapular dysplasia
2295 Familial joint instability syndrome
624 Familial multiple port-wine stains Familial pheochromocytoma-
2295 Familial joint laxity 29072
867 Familial multiple trichoepithelioma paraganglioma
180176 Familial juvenile gigantomastia 98809 Familial PKD
922 Familial nasal acilia
209886 Familial juvenile gouty nephropathy
209886 Familial nephropathy with gout Familial platelet disorder with
Familial juvenile hypertrophy of the 71290
180176 Familial non-immune associated myeloid malignancy
breast 424 Familial platelet syndrome with
hyperthyroidism
Familial juvenile hyperuricemic 71290 predisposition to acute myelogenous
209886 Familial normophosphatemic
nephropathy type 1 306658 leukemia
tumoral calcinosis
Familial juvenile hyperuricemic Familial polymorphous light
217330 Familial omphalocele syndrome 330061
nephropathy type 2 280403 eruption of American Indians
with facial dysmorphism
493 Familial keratoacanthoma 733 Familial polyposis coli
Familial or idiopathic dilated
293936 Familial keratoconus with cataract 154 Familial polyposis coli due to
cardiomyopathy 261584
3267 Familial lambdoid synostosis monosomy 5q22.2
Familial or idiopathic restrictive
79293 Familial LCAT deficiency 75249 99810 Familial porencephaly
cardiomyopathy
Familial leiomyomatosis and renal Familial or sporadic hemiplegic 443062 Familial porphyria cutanea tarda
523
cell cancer 569
migraine Familial primary hypomagnesemia
Familial leiomyomatosis cutis et Familial orthostatic tachycardia due with hypercalciuria and
523 2196
uteri 443236 to norepinephrine transporter nephrocalcinosis with severe ocular
Familial leiomyomatosis with renal deficiency involvement
523
carcinoma 435329 Familial ossifying fibroma Familial primary hypomagnesemia
231040 Familial lentigines profusa 251262 Familial osteochondritis dissecans with hypercalciuria and
31043
871 Familial Lenègre disease nephrocalcinosis without severe
Familial osteodysplasia, Anderson
871 Familial Lev disease 2769 ocular involvement
type
871 Familial Lev-Lenègre disease 2801 Familial osteoectasia
ORPHA ORPHA ORPHA
Familial primary hypomagnesemia Familial Scheuermann juvenile 2792 Fara-Chlupackova syndrome
3135
34527 with normocalciuria and kyphosis 333 Farber disease
normocalcemia 481986 Familial schizencephaly 333 Farber lipogranulomatosis
Familial primary localized cutaneous →168569 Familial SHML 99906 Farmer's lung disease
353220
amyloidosis 51083 Familial short QT syndrome 1915 FAS
Familial primary self-healing 166282 Familial sick sinus syndrome 3261 FAS deficiency
65748 squamous epithelioma of the skin, Familial sinus histiocytosis with 1915 FASD
Ferguson-Smith type →168569
massive lymphadenopathy 164736 FASPS
Familial progressive cardiac 166282 Familial sinus node dysfunction
871 FASTKD2-related infantile
conduction defect 300345 Familial SLE
166105
mitochondrial encephalomyopathy
871 Familial progressive heart block 3135 Familial spinal osteochondrosis Fatal congenital hypertrophic
Familial progressive hyper- and Familial spontaneous 439854 cardiomyopathy due to glycogen
280628
hypopigmentation 2903
pneumothorax storage disease
Familial progressive 3197 Familial startle disease Fatal congenital hypertrophic
79146
hyperpigmentation 439854
Familial steroid-resistant nephrotic cardiomyopathy due to glycogenosis
Familial progressive retinal 506334
syndrome with adrenal insufficiency Fatal congenital hypertrophic
488197 dystrophy-iris coloboma-congenital 439854
Familial steroid-resistant nephrotic cardiomyopathy due to GSD
cataract syndrome
280406 syndrome with sensorineural 466 Fatal familial insomnia
Familial progressive subcortical deafness
313808 Fatal infantile
gliosis
Familial streblodactyly with amino- 1561 cardioencephalomyopathy due to
Familial progressive 1325
→90635 aciduria cytochrome C oxidase deficiency
vestibulocochlear dysfunction
2456 Familial supernumerary nipples 1561 Fatal infantile COX deficiency
1331 Familial prostate cancer
370034 Familial syringomyelia Fatal infantile cytochrome C oxidase
90044 Familial pseudohyperkalemia 1561
Familial systemic lupus deficiency
→3202 Familial pseudohyperkalemia type 1 300345
erythematosus Fatal infantile encephalopathy with
Familial pterygium of the 91387 Familial TAAD 166073 mitochondrial respiratory chain
2989
conjunctiva defects
98819 Familial temporal lobe epilepsy
Familial pulmonary arterial Fatal infantile encephalopathy with
275777 Familial thoracic aortic aneurysm 166063
hypertension 91387
olivopontocerebellar hypoplasia
and aortic dissection
Familial pure nonmedullary thyroid Fatal infantile encephalopathy-
319487 71493 Familial thrombocythemia →370114
carcinoma pulmonary hypertension syndrome
71493 Familial thrombocytosis
1675 Familial pyrimidinemia
Familial thrombocytosis with Fatal infantile HCM due to
Familial reactive perforating 329319 289527
79147 transverse limb defect mitochondrial complex I deficiency
collagenosis
3324 Familial thrombomodulin anomalies 280553 Fatal infantile hypertonic
46348 Familial rectal pain myofibrillar myopathy
93953 Familial thyroglossal duct cyst
69126 Familial recurrent arthritis Fatal infantile hypertrophic
95716 Familial thyroid dyshormonogenesis
2809 Familial recurrent Bell palsy 289527 cardiomyopathy due to
53372 Familial trembling of the chin
Familial recurrent peripheral facial mitochondrial complex I deficiency
2809 93583 Familial TTP
palsy Fatal infantile hypertrophic
53715 Familial tumoral calcinosis
85450 Familial renal amyloidosis 289527 cardiomyopathy due to NADH-
289365 Familial vesicoureteral reflux coenzyme Q reductase deficiency
Familial renal amyloidosis due to
93560 2604 Familial visceral myopathy
apolipoprotein A-I variant Fatal infantile hypertrophic
Familial renal amyloidosis due to 2808 Familial vocal cord dysfunction 289527 cardiomyopathy due to NADH-CoQ
238269 289365 Familial VUR
apolipoprotein A-II variant reductase deficiency
Familial renal amyloidosis due to 170 Familial woolly hair syndrome Fatal infantile lactic acidosis with
93561 17
lysozyme variant 170 Familial wooly hair syndrome methylmalonic aciduria
69076 Familial renal glucosuria 404560 FAMM-PC syndrome Fatal mitochondrial disease due to
Familial retinal arterial 404560 FAMMM syndrome 168566 combined oxidative phosphorylation
284247 defect type 3
macroaneurysm 84 Fanconi anemia
231108 Familial rhabdoid tumor 84 Fanconi pancytopenia Fatal mitochondrial disease due to
168566
→168569 Familial Rosaï-Dorfman disease Fanconi syndrome-ichthyosis- COXPD3
→2697 Fatal post-viral neurodegenerative
Familial scaphocephaly syndrome, dysmorphism syndrome 391343
168624 disorder
McGillivray type 2088 Fanconi-Bickel disease
2492 FATCO syndrome
Familial scaphocephaly-radioulnar 733 FAP
171839 Fatty acid alcohol oxidoreductase
synostosis syndrome 261584 FAP due to monosomy 5q22.2 816
3135 Familial Scheuermann disease deficiency
ORPHA ORPHA ORPHA
Fatty acid hydroxylase-associated 1987 Femoral intercalary meromelia Fetomaternal alloimmunization
329308 69063
neurodegeneration 1988 Femoral-facial syndrome with antenatal glomerulopathies
2064 Faulk-Epstein-Jones syndrome Femorotibiofibular intercalary Fever-associated acute infantile
294977 464724
→97229 Fazio-Londe disease transverse meromelia liver failure syndrome
405 FBH 2019 Femur-fibula-ulna complex Fever-induced refractory epileptic
405 FBHH 2019 Femur-fibula-ulna dysostosis 163703 encephalopathy in school-aged
FBLN1-related developmental 2019 Femur-fibula-ulna syndrome children
404451 delay-central nervous system 60015 Fenestrae parietales symmetricae 891 FEVR
anomaly-syndactyly syndrome 85110 FENIB 254492 FFA
348 FBPase deficiency 398166 FFDD
Fenton-Wilkinson-Toselano
1184 79133 FFDD1
47045 FCAS syndrome
247868 FCAS2 45358 FEOM 398173 FFDD2
440437 FCCTX 391384 FEPS 1807 FFDD3
98970 FCD 65748 Ferguson-Smith disease 398189 FFDD4
268961 FCD type I 2180 Ferlini-Ragno-Calzolari syndrome 79133 FFDD type I
268973 FCD type Ia 157846 Ferritin-related neurodegeneration 398173 FFDD type II
268980 FCD type Ib 397922 Ferro-cerebro-cutaneous syndrome 1807 FFDD type III
268987 FCD type Ic 139491 Ferroportin disease 398189 FFDD type IV
268994 FCD type II 40366 Fetal acitretin/etretinate syndrome 98820 FFEVF
269001 FCD type IIa Fetal akinesia deformation 1988 FFS
994
269008 FCD type IIb sequence 2019 FFU complex
272 FCMD Fetal akinesia-cerebral and retinal 93932 FG syndrome type 1
363409
86814 FCMTE hemorrhage syndrome 313855 FGFR2-related bent bone dysplasia
99654 FCPD 1915 Fetal alcohol spectrum disorders 1305 FGLDS
3071 FCS syndrome 1915 Fetal alcohol syndrome 391641 FGLDS1
47045 FCU 1908 Fetal aminopterin syndrome 391646 FGLDS2
324 FD 1041 Fetal anasarca 403 FH1
324588 FDFM Fetal and neonatal alloimmune 404 FH2
853
26106 FDGC thrombocytopenia 251274 FH3
412022 FDLAB syndrome 370076 Fetal carbamazepine syndrome 403 FH-I
Febrile infection-related epilepsy 1911 Fetal cocaine syndrome 404 FH-II
163703
syndrome 294 Fetal cytomegalovirus syndrome 251274 FH-III
98974 FECD 1912 Fetal dihydantoin syndrome →168569 FHC
→182050 Fechtner syndrome 465824 Fetal encasement syndrome 401920 FHCC
79292 FED 97360 Fetal face syndrome 405 FHH
247165 Feer disease 85212 Fetal Gaucher disease 93372 FHH type 1
98969 Fehr corneal dystrophy 1912 Fetal hydantoin syndrome 101049 FHH type 2
Feigenbaum-Bergeron-Richardson 1041 Fetal hydrops 101050 FHH type 3
1192
syndrome 1909 Fetal indomethacin syndrome 99763 FHHA1
1305 Feingold syndrome 1910 Fetal iodine syndrome 99764 FHHA2
391641 Feingold syndrome type 1 1055 Fetal left ventricular aneurysm FHHNC with severe ocular
2196
391646 Feingold syndrome type 2 284362 Fetal lung interstitial tumor involvement
53693 Fellman disease 1917 Fetal methylmercury syndrome FHHNC without severe ocular
31043
47612 Felty syndrome 1918 Fetal minoxidil syndrome involvement
Female infertility due to oocyte 295 Fetal parvovirus syndrome 263479 FHI
488191
meiotic arrest 290 Fetal rubella syndrome 397618 FHONDA syndrome
Female infertility due to zona 3312 Fetal thalidomide syndrome 1988 FHUFS
404466
pellucida defect 1913 Fetal trimethadione syndrome 251601 Fibrillary astrocytoma
Female restricted epilepsy with 1906 Fetal valproate syndrome 331 Fibrin-stabilizing factor deficiency
101039
intellectual disability 1906 Fetal valproic acid syndrome Fibrinogen A alpha-chain
93562
1987 Femoral agenesis/hypoplasia Fetal-onset olivopontocerebellar amyloidosis
399329 Femoral head epiphysiolysis 166068
hypoplasia 439881 Fibrinous bronchitis
Femoral hypoplasia-unusual facies 95431 Feto-fetal transfusion syndrome 477650 Fibroblastic rheumatism
1988
syndrome 99654 Fibrocalculous pancreatic diabetes
ORPHA ORPHA ORPHA
99654 Fibrocalculous pancreatopathy 98919 Fisher syndrome 398189 Focal facial preauricular dysplasia
2021 Fibrochondrogenesis Fistulous vegetative verrucous 221083 Focal myoclonus of face
840
337 Fibrodysplasia ossificans progressiva hydradenoma 48918 Focal myositis
Fibrofolliculomas with Fitzsimmons-McLachlan-Gilbert 48918 Focal nodular myositis
122 2824
trichodiscomas and acrochordons syndrome Focal palmoplantar and gingival
2200
401920 Fibrolamellar hepatocarcinoma Fitzsimmons-Walson-Mellor hyperkeratosis
2820
Fibrolamellar hepatocellular syndrome Focal palmoplantar and gingival
401920 2200
carcinoma 293812 Fixed drug eruption keratoderma
79105 Fibromyxosarcoma 3092 Fixed subaortic stenosis Focal palmoplantar keratoderma
370002
84090 Fibronectin glomerulopathy 209886 FJHN type 1 with joint keratoses
2030 Fibrosarcoma 217330 FJHN type 2 443804 Focal stiff limb syndrome
63999 Fibrosing mediastinitis Flat face-microstomia-ear anomaly 443804 Focal stiff-person syndrome
1968
249 Fibrous dysplasia of bone syndrome 79093 Foix-Alajouanine syndrome
Fibular aplasia-complex 79293 FLD 2048 Foix-Chavany-Marie syndrome
2639
brachydactyly syndrome 83315 Flea-borne typhus 79097 Folinic acid-responsive seizures
Fibular aplasia-ectrodactyly 98970 Fleck corneal dystrophy Follicular atrophoderma and basal
1118 113
syndrome 409 Flegel disease cell carcinomas
Fibular aplasia-tibial campomelia- 284362 FLIT Follicular atrophoderma-basal cell
2492 79459
oligosyndactyly syndrome 2044 Floating-Harbor syndrome carcinoma
Fibular dimelia-diplopodia 83451 Florid cemento-osseous dysplasia Follicular cholangitis and
1757 300552
syndrome 83451 Florid osseous dysplasia pancreatitis
93323 Fibular hemimelia 2045 FLOTCH syndrome 86902 Follicular dendritic cell sarcoma
Fibular hypoplasia or aplasia- 199306 FLP 69745 Follicular dyskeratoma
2854 femoral bowing-oligodactyly 99734 Fluctuating myotonia 525 Follicular lichen planus
syndrome 1685 Fluke infection 545 Follicular lymphoma
93323 Fibular longitudinal meromelia 300552 Follicular pancreatocholangitis
2047 Flynn-Aird syndrome
Fibulo-ulnar hypoplasia-renal 69063 FMAIG Follicular stimulating hormone-
2256 243
anomalies syndrome resistant ovaries
342 FMF
79306 FIC1 deficiency Folliculitis ulerythematosa
276399 FMNG 79100
29207 Fiessinger-Leroy disease reticulate
3000 FMPP
29207 Fiessinger-Leroy-Reiter syndrome 178512 Folliculotropic mycosis fungoides
319487 FNMTC
2756 Figuera syndrome 228371 Foodborne botulism
Foamy myocardial transformation
99879 FIHPT 137675 Foot contractures-muscle atrophy-
of infancy 3454
3255 Filippi syndrome 2143 FOAR syndrome oculomotor apraxia syndrome
352712 FILS syndrome 337 FOP
308013 Focal acral hyperkeratosis
352582 FIME 60015 Foramina parietalia permagna
83451 Focal cemento-osseous dysplasia
1272 Fine-Lubinsky syndrome 366 Forbes disease
2092 Focal dermal hypoplasia
Finger hyperphalangy-toe Focal epilepsy-intellectual disability- Foregut duplication cyst of the
141071
369979 anomalies-severe pectus excavatum 352587 tongue
cerebro-cerebellar malformation
syndrome 51208 Formiminoglutamic aciduria
Focal epilepsy-intellectual disability-
97232 Fingerprint body myopathy 352587 Formiminotransferase
dysarthria-ataxia syndrome 51208
209335 Finkel disease cyclodeaminase deficiency
398166 Focal facial dermal dysplasia
2036 Finlay-Marks syndrome 3238 Forney syndrome
Focal facial dermal dysplasia 1,
839 Finnish congenital nephrosis 79133 3238 Forney-Robinson-Pascoe syndrome
Brauer type
609 Finnish tibial muscular dystrophy 178333 Forsius-Eriksson syndrome
Focal facial dermal dysplasia 2,
Finnish upper limb-onset distal 398173 Forsius-Eriksson type ocular
399086 Brauer-Setleis type 178333
myopathy Focal facial dermal dysplasia 3, albinism
1825 Finucane-Kurtz-Scott syndrome 1807 85162 FOSMN syndrome
Setleis type
314777 FIPA 398189 Focal facial dermal dysplasia 4 3219 Fountain syndrome
163703 FIRES 79133 Focal facial dermal dysplasia type 1 141037 Fourth branchial cleft anomaly
141136 First branchial arch syndrome 79133 Focal facial dermal dysplasia type I 141037 Fourth branchial cleft cyst
141013 First branchial cleft anomaly 398173 Focal facial dermal dysplasia type II 141037 Fourth branchial cleft fistula
141013 First branchial cleft cyst 1807 Focal facial dermal dysplasia type III Foveal hypoplasia-optic nerve
141013 First branchial cleft fistula 398189 Focal facial dermal dysplasia type IV 397618 decussation defect-anterior segment
79292 Fish-eye disease dysgenesis syndrome
ORPHA ORPHA ORPHA
Foveal hypoplasia-presenile cataract 96 Friedreich-like ataxia 349 Fucosidosis
2253
syndrome 99672 Fried's tooth and nail syndrome 2854 Fuhrmann syndrome
221126 Fowler syndrome 1931 Frontal encephalocele Fuhrmann-Rieger-de Sousa
2854
Fowler-Christmas-Chapple 254492 Frontal fibrosing alopecia syndrome
2795
syndrome 1791 Frontofacionasal dysplasia Fukuda-Miyanomae-Nakata
→85199
169095 FOXN1 deficiency 1826 Frontometaphyseal dysplasia syndrome
391372 FOXP1 syndrome Frontonasal arteriovenous 551 Fukuhara syndrome
141168
1799 FOXP2-associated dysphasia malformation Fukuyama congenital muscular
272
275777 FPAH 391474 Frontonasal dysplasia type 1 dystrophy
71290 FPD/AML syndrome 228390 Frontonasal dysplasia type 2 90062 Fulminant hepatic failure
280628 FPHH 306542 Frontonasal dysplasia type 3 35063 Fulminant viral hepatitis
353220 FPLCA Frontonasal dysplasia with alopecia 24 Fumarase deficiency
228390
79084 FPLD1 and genital abnomality 24 Fumaric aciduria
2348 FPLD2 Frontonasal dysplasia-alopecia- 882 Fumarylacetoacetase deficiency
228390
79083 FPLD3 genital anomalies syndrome Fumarylacetoacetate hydrolase
882
280356 FPLD4 Frontonasal dysplasia-bifid nose- deficiency
521308
435651 FPLD5 upper limb anomalies syndrome Functional methionine synthase
622
435660 FPLD6 Frontonasal dysplasia-severe deficiency
71290 FPS/AML syndrome 306542 microphthalmia-severe facial Functional methionine synthase
308380
313808 FPSG clefting syndrome deficiency type cblDv1
391474 Frontorhiny Functional methionine synthase
69126 FRA 2169
Frontotemporal dementia with deficiency type cblE
908 Fragile X syndrome 275872
amyotrophic lateral sclerosis Functional methionine synthase
Fragile X-associated tremor/ataxia 2170
93256 Frontotemporal dementia with deficiency type cblG
syndrome 275872
motor neuron disease 91348 Functioning gonadotropic adenoma
284247 FRAM
Frontotemporal dementia, right Functioning pituitary gonadotropic
861 Franceschetti-Klein syndrome 293848 91348
temporal atrophy variant adenoma
2523 Franek-Bocker-Kahlen syndrome
2141 Froster-Huch syndrome 227796 Fundus albipunctatus
137834 Frank-Ter Haar syndrome
Froster-Iskenius-Waterson-Hall 827 Fundus flavimaculatus
100026 Franklin disease 2215
syndrome 99004 Fundus pulverulentus
2108 François dyscephalic syndrome 2056 Fructokinase deficiency 519930 Fungal keratitis
79149 François syndrome
Fructose-1,6-bisphosphatase 207000 Fungal myositis
François-Neetens speckled corneal 348
98970 deficiency →60030 Furlong syndrome
dystrophy Fructose-1,6-diphosphatase
348 2579 Furukawa-Takagi-Nakao syndrome
2052 Fraser syndrome deficiency 591 Furuncular myiasis
→2052 Fraser-like syndrome 2057 Frydman-Cohen-Karmon syndrome 591 Furunculoid myiasis
347 Frasier syndrome 2429 Fryns macrocephaly 591 Furunculous myiasis
908 FraX syndrome 1104 Fryns microphthalmia syndrome 228119 Fusariosis
908 FRAXA syndrome 2059 Fryns syndrome 228119 Fusarium infection
100973 FRAXE intellectual disability →2995 Fryns-Aftimos syndrome 2287 Fused mandibular incisors
100974 FRAXF syndrome 2497 Fryns-Hofkens-Fabry syndrome 2498 Fusion of metacarpals 4 and 5
95 FRDA 2058 Fryns-Smeets-Thiry syndrome 35909 FV and FVIII combined deficiency
834 Free sialic acid storage disease 1305 FS 908 FXS
Free sialic acid storage disease, 391641 FS1
309324 93256 FXTAS syndrome
infantile form 391646 FS2
2053 Freeman-Sheldon syndrome
364 G6P deficiency
269 FSH dystrophy 79258 G6P deficiency type 1a
1147 Freeman-Sheldon syndrome variant 243 FSH-RO 79259 G6P deficiency type Ib
Freire Maia-Pinheiro-Opitz 269 FSHD
2673 79259 G6P translocase deficiency
syndrome
51208 FTCD deficiency 79259 G6PT deficiency
2723 Freire-Maia syndrome
275872 FTD-ALS 25 GA1
→264200 Frias syndrome
275872 FTD-MND 2066 GABA transaminase deficiency
85335 Fried syndrome
247790 FTH1-associated iron overload 79402 GABEB
2487 Fried-Goldberg-Mundel syndrome
247790 FTH1-related iron overload 506358 Gabriele-de Vries syndrome
1969 Friedman-Goodman syndrome
98974 Fuchs endothelial corneal dystrophy 90041 Gaisböck syndrome
95 Friedreich ataxia
263479 Fuchs heterochromic iridocyclitis
ORPHA ORPHA ORPHA
487 Galactocerebrosidase deficiency 99000 Gass disease 98962 GCDI
79237 Galactokinase deficiency Gastric adenocarcinoma and 98963 GCDII
314022
Galactokinase deficiency proximal polyposis of the stomach 438274 GCGR-related hyperglucagonemia
79237
galactosemia Gastric carcinoma, salivary gland 528 GCL
423781
Galactosamine-6-sulfatase type →528 GCL4
309297
deficiency Gastric duplication cyst of the 2095 GCM syndrome
141071
79238 Galactose epimerase deficiency tongue 380 GCPS
Galactose-1-phosphate 332 Gastric intrinsic factor deficiency 363976 GCT of bone
79239
uridyltransferase deficiency 36273 Gastric linitis plastica 98957 GDCD
79239 Galactosemia type 1 100075 Gastric NET 53697 GDD
79237 Galactosemia type 2 100075 Gastric neuroendocrine tumor 366 GDE deficiency
79238 Galactosemia type 3 418959 Gastric squamous cell carcinoma 324636 GDS
351 Galactosialidosis 913 Gastrinoma 36387 GEFS+
487 Galactosylceramidase deficiency 2069 Gastrocutaneous syndrome 411777 GEKA
75496 Galactosyltransferase I deficiency Gastrointestinal polyposis- 26790 Gelatinous ascites
2930
487 GALC deficiency ectodermal changes syndrome Gelatinous drop-like corneal
79238 GALE deficiency Gastrointestinal polyposis-skin 98957
dystrophy
79238 GALE-D 2930 pigmentation-alopecia-fingernail 2623 Geleophysic dwarfism
79237 GALK deficiency changes syndrome
2623 Geleophysic dysplasia
79237 GALK-D 44890 Gastrointestinal stromal sarcoma
2073 Gélineau disease
100086 Gallbladder neuroendocrine tumor 44890 Gastrointestinal stromal tumor
85448 Gelsolin amyloidosis
2065 Galloway syndrome 2368 Gastroschisis
2074 Gemignani syndrome
2065 355 Gaucher disease
Galloway-Mowat syndrome 251604 Gemistocytic astrocytoma
309297 GALNS deficiency 77259 Gaucher disease type 1
2084 GEMSS syndrome
79239 GALT deficiency 77260 Gaucher disease type 2
Generalized arterial calcification of
77261 Gaucher disease type 3 51608
2325 Gamborg-Nielsen syndrome infancy
3035 Game-Friedman-Paradice syndrome 2072 Gaucher disease type 3C Generalized atrophic benign
Gaucher disease, subacute 79402
Gamma-aminobutyric acid 77261 epidermolysis bullosa
2066 neuronopathic type
transaminase deficiency Generalized basal epidermolysis
212 Gamma-cystathionase deficiency Gaucher disease-ophthalmoplegia- 508529 bullosa simplex with skin atrophy,
Gamma-glutamyl transferase
2072 cardiovascular calcification scarring and hair loss
33573 syndrome
deficiency Generalized basaloid follicular
2072 Gaucher-like disease 168632
Gamma-glutamyl transpeptidase hamartoma syndrome
33573 GBE deficiency, adult
deficiency 308712 Generalized cervical and upper-
neuromuscular form 98806
Gamma-glutamylcysteine limb-onset dystonia
33574 GBE deficiency, childhood combined
synthetase deficiency 308684 Generalized congenital
hepatic and myopathic form 528
100026 Gamma-HCD lipodystrophy
100026 Gamma-heavy chain disease GBE deficiency, childhood Generalized congenital
308698 →528
neuromuscular form lipodystrophy type 4
22 Gamma-hydroxybutyric aciduria
GBE deficiency, congenital Generalized congenital
353 Gamma-sarcoglycanopathy 308670 →528
neuromuscular form lipodystrophy with myopathy
682 Gamstorp disease
GBE deficiency, fatal perinatal 263543 Generalized deciduous skin
682 Gamstorp episodic adynamy 308655
neuromuscular form 263548 Generalized deciduous skin type A
382 GAMT deficiency GBE deficiency, non progressive
643 GAN 308638 263553 Generalized deciduous skin type B
hepatic form
251937 Gangliocytoma 263558 Generalized deciduous skin type C
GBE deficiency, progressive hepatic
251949 Ganglioglioma 308621 Generalized dominant dystrophic
form 231568
251877 Ganglioneuroblastoma epidermolysis bullosa
360 GBM
251992 Ganglioneuroma Generalized EBS, non-Dowling-
GBS, acute inflammatory 79399
Meara type
2067 GAPO syndrome 98916 demyelinating
Generalized enchondromatosis with
314022 GAPPS polyradiculoneuropathic form 99647
platyspondyly
3469 Garcia-Lurie syndrome 329984 GCC
Generalized epidermolysis bullosa
79665 Gardner syndrome 98962 GCD1 79399
simplex, non-Dowling-Meara type
324636 Gardner-Diamond syndrome 98963 GCD2 Generalized epilepsy with febrile
2075 Gardner-Silengo-Wachtel syndrome 25 GCDHD 36387
seizures-plus
ORPHA ORPHA ORPHA
Generalized epilepsy-paroxysmal 2075 Genitopalatocardiac syndrome Gingival fibromatosis-hypertrichosis
79137 2026
dyskinesia syndrome 85201 Genitopatellar syndrome syndrome
Generalized epimerase deficiency 2163 Genoa syndrome Gingival fibromatosis-progressive
308487 2027
galactosemia 85197 Genochondromatosis type 1 deafness syndrome
157991 Generalized eruptive histiocytoma 93398 Genochondromatosis type 2 Gingival hypertrophy-corneal
2709
157991 Generalized eruptive histiocytosis Genome-wide paternal uniparental dystrophy
329813 44890 GIST
Generalized eruptive disomy mosaicism
411777
keratoacanthoma 1454 Gentile syndrome 97286 GIST-paraganglioma dyad
Generalized eruptive 217008 Genuine diffuse phlebectasia 358 Gitelman syndrome
411777
keratoacanthomas of Grzybowski 98961 Geographic corneal dystrophy 3268 Giuffré-Tsukahara syndrome
280774 Generalized essential telangiectasia Geographic helicoid peripapillary 141209 GLA
36236 Generalized exfoliative disease 35686
choroidopathy 849 Glanzmann thrombasthenia
1041 Generalized fetal edema 79137 GEPD 666 Glass bone disease
Generalized galactose epimerase 2808 Gerhardt syndrome →53271 Glass-Chapman-Hockley syndrome
308487
deficiency 213837 Germ cell cancer of the cervix uteri Glassy cell carcinoma of the cervix
213833
308487 Generalized GALE deficiency 213751 uteri
Germ cell cancer of the corpus uteri
308487 Generalized GALE-D 2077 German syndrome Glaucoma secondary to
Generalized hematopoietic Germinoma of the central nervous 238763 spherophakia/ectopia lentis and
33355 91352
hypoplasia system megalocornea
Generalized junctional 2078 Geroderma osteodysplastica Glaucoma-ectopia lentis-
79402 epidermolysis bullosa, non-Herlitz 496693 Gershoni-Baruch syndrome
2084 microspherophakia-stiff joints-short
type stature syndrome
1117 Gershoni-Baruch-Leibo syndrome
Generalized juvenile 2085 Glaucoma-sleep apnea syndrome
329971 221117 Gerstmann syndrome
polyposis/juvenile polyposis coli 354 GLB1 deficiency
Gerstmann-Straussler-Scheinker
Generalized lichenoid papular 356 360 Glioblastoma
167635 syndrome
eruption 360 Glioblastoma multiforme
99926 Gestational choriocarcinoma
Generalized lipodystrophy- 269197 Glioependymal/ependymal cyst
435628 progeroid features-severe
63275 Gestational pemphigoid
280774 GET
251582 Gliomatosis cerebri
intellectual disability syndrome 251576 Gliosarcoma
141209 Generalized lymphatic anomaly 84090 GFND
GH and PRL cosecreting pituitary Global developmental delay-lung
89842 Generalized mitis RDEB 314769 404476 cysts-overgrowth-Wilms tumor
Generalized papular and adenoma
syndrome
167635 sclerodermoid lichen 633 GH receptor deficiency
Global developmental delay-neuro-
myxedematosus 1802 Ghosal hematodiaphyseal dysplasia
ophthalmological abnormalities-
263543 Generalized peeling skin syndrome 1802 Ghosal syndrome 488613
seizures-intellectual disability
Generalized peeling skin syndrome 83450 Ghost teeth syndrome
263548
type A 314811 Ghrelin receptor deficiency Global developmental delay-
Generalized peeling skin syndrome 180267 Giant adenofibroma of the breast 73223 osteopenia-ectodermal defect
263553
type B 643 Giant axonal neuropathy syndrome
Generalized peeling skin syndrome 397 Giant cell arteritis Global developmental delay-visual
263558
type C 1190 Giant cell chondrodysplasia 480898 anomalies-progressive cerebellar
Generalized 251579 Giant cell glioblastoma atrophy-truncal hypotonia syndrome
171876
pseudohypoaldosteronism type 1 139436 Giant cell histiocytomatosis 2791 Globodontia
263543 Generalized PSS 363976 Giant cell tumor of bone 487 Globoid cell leukodystrophy
247353 Generalized pustular psoriasis 626 Giant congenital melanocytic nevus 83454 Glomangiomatosis
Generalized resistance to thyroid 2494 Giant hypertrophic gastritis Glomerulonephritis-sparse hair-
3221 →69735
hormone 626 Giant pigmented hairy nevus telangiectasis syndrome
Generalized UDP-galactose-4- 274 Giant platelet syndrome Glomerulopathy with fibronectin
308487 84090
epimerase deficiency 1065 Gillespie syndrome deposits
Generalized uridine diphosphate Gingival fibromatosis-facial 391651 Glomus tumor
308487
galactose-4-epimerase deficiency 2025 83454 Glomuvenous malformation
dysmorphism syndrome
Genetic hyperferritinemia without Gingival fibromatosis- 2616 Gloomy face syndrome
254704
iron overload 3473 hepatosplenomegaly-other 141163 Glossopalatine ankylosis
99845 Genetic recurrent myoglobinuria anomalies syndrome 221098 Glossopharyngeal neuralgia
Genetic transient congenital 404476 GLOW syndrome
226316
hypothyroidism
ORPHA ORPHA ORPHA
255132 GLRX5-related sideroblastic anemia Glycine N-methyltransferase Glycogen storage disease due to
289891
97280 Glucagonoma deficiency 366 glycogen debranching enzyme
97280 Glucagonoma syndrome Glycogen storage disease due to deficiency
365
355 Glucocerebrosidase deficiency acid maltase deficiency Glycogen storage disease due to
2089
786 Glucocorticoid resistance Glycogen storage disease due to hepatic glycogen synthase deficiency
Glucocorticoid-remediable 308552 acid maltase deficiency, infantile Glycogen storage disease due to
403 2364
aldosteronism onset lactate dehydrogenase deficiency
Glucocorticoid-sensitive Glycogen storage disease due to Glycogen storage disease due to
403 420429
hypertension acid maltase deficiency, late-onset 284435 lactate dehydrogenase H-subunit
Glucosamine N-acetyl-6-sulfatase Glycogen storage disease due to deficiency
79272 57
deficiency aldolase A deficiency Glycogen storage disease due to
Glycogen storage disease due to 284426 lactate dehydrogenase M-subunit
Glucose transporter type 1 364
71277 G6P deficiency deficiency
deficiency
35710 Glucose-galactose malabsorption Glycogen storage disease due to Glycogen storage disease due to
79258 34587
G6P deficiency type Ia LAMP-2 deficiency
79330 Glucosidase 1 deficiency
Glycogen storage disease due to Glycogen storage disease due to
79320 Glucosyltransferase 1 deficiency 79259
G6P deficiency type Ib 79240 liver and muscle phosphorylase
79325 Glucosyltransferase 2 deficiency
Glycogen storage disease due to kinase deficiency
71277 Glut1-DS 364
glucose-6-phosphatase deficiency Glycogen storage disease due to
71277 Glut-1 deficiency syndrome 369 liver glycogen phosphorylase
Glycogen storage disease due to
Glutamate formiminotransferase 79258 glucose-6-phosphatase deficiency deficiency
51208
deficiency type Ia Glycogen storage disease due to
Glutamate-aspartate transport 2089
2195 Glycogen storage disease due to liver glycogen synthase deficiency
defect 79259 glucose-6-phosphatase deficiency Glycogen storage disease due to
33574 Glutamate-cysteine ligase deficiency type Ib 264580 liver phosphorylase kinase
25 Glutaric acidemia type 1 Glycogen storage disease due to deficiency
26791 Glutaric acidemia type 2 2088
GLUT2 deficiency Glycogen storage disease due to
35706 Glutaric acidemia type 3 Glycogen storage disease due to 137625 muscle and heart glycogen synthase
25 Glutaric aciduria type 1 367 glycogen branching enzyme deficiency
26791 Glutaric aciduria type 2 deficiency Glycogen storage disease due to
99849
394532 Glutaric aciduria type 2, mild type Glycogen storage disease due to muscle beta-enolase deficiency
Glutaric aciduria type 2, severe glycogen branching enzyme Glycogen storage disease due to
394529 308712
neonatal type deficiency, adult neuromuscular 368 muscle glycogen phosphorylase
35706 Glutaric aciduria type 3 form deficiency
Glutaryl-CoA dehydrogenase Glycogen storage disease due to Glycogen storage disease due to
25 glycogen branching enzyme 371 muscle phosphofructokinase
deficiency 308684
35706 Glutaryl-CoA oxidase deficiency deficiency, childhood combined deficiency
Glutaryl-coenzyme A hepatic and myopathic form Glycogen storage disease due to
25 Glycogen storage disease due to 715 muscle phosphorylase kinase
glycogen branching enzyme deficiency
32 Glutathione synthetase deficiency 308698
deficiency, childhood neuromuscular Glycogen storage disease due to
Glutathione synthetase deficiency →319646
289846 form phosphoglucomutase deficiency
with 5-oxoprolinuria
Glycogen storage disease due to Glycogen storage disease due to
Glutathione synthetase deficiency
289849 glycogen branching enzyme 713 phosphoglycerate kinase 1
without 5-oxoprolinuria 308670
deficiency, congenital deficiency
33573 Glutathionuria neuromuscular form Glycogen storage disease due to
Glycerol kinase deficiency, adult 97234
284414 Glycogen storage disease due to phosphoglycerate mutase deficiency
form glycogen branching enzyme
308655
2089 Glycogen storage disease type 0a
Glycerol kinase deficiency, infantile deficiency, fatal perinatal
284408 137625 Glycogen storage disease type 0b
form neuromuscular form 364 Glycogen storage disease type 1
Glycerol kinase deficiency, juvenile Glycogen storage disease due to
284411 79258 Glycogen storage disease type 1a
form glycogen branching enzyme
308638 79259 Glycogen storage disease type 1b
Glycerol kinase deficiency- deficiency, non progressive hepatic
261476 →79259 Glycogen storage disease type 1c
contiguous gene syndrome form
Glycine cleavage system L protein →79259 Glycogen storage disease type 1d
255182 Glycogen storage disease due to
deficiency 308621 glycogen branching enzyme
365 Glycogen storage disease type 2
407 Glycine encephalopathy deficiency, progressive hepatic form
ORPHA ORPHA ORPHA
Glycogen storage disease type 2, Glycogen storage disease type IV, Glycogenosis due to glycogen
308552 308638
infantile onset non progressive hepatic form 308638 branching enzyme deficiency, non
Glycogen storage disease type 2, Glycogen storage disease type IV, progressive hepatic form
420429 308621
late-onset progressive hepatic form Glycogenosis due to glycogen
366 Glycogen storage disease type 3 264580 Glycogen storage disease type IXa 308621 branching enzyme deficiency,
367 Glycogen storage disease type 4 79240 Glycogen storage disease type IXb progressive hepatic form
Glycogen storage disease type 4, 264580 Glycogen storage disease type IXc Glycogenosis due to glycogen
308712 366
adult neuromuscular form 715 Glycogen storage disease type IXd debranching enzyme deficiency
Glycogen storage disease type 4, 715 Glycogen storage disease type IXe Glycogenosis due to lactate
2364
308684 childhood combined hepatic and 368 Glycogen storage disease type V dehydrogenase deficiency
myopathic form 369 Glycogen storage disease type VI Glycogenosis due to lactate
284435
Glycogen storage disease type 4, dehydrogenase H-subunit deficiency
308698 371 Glycogen storage disease type VII
childhood neuromuscular form Glycogenosis due to lactate
2088 Glycogen storage disease type XI 284426
Glycogen storage disease type 4, dehydrogenase M-subunit deficiency
308670 57 Glycogen storage disease type XII
congenital neuromuscular form Glycogenosis due to LAMP-2
→319646 Glycogen storage disease type XIV 34587
Glycogen storage disease type 4, deficiency
308655 263297 Glycogen storage disease type XV
fatal perinatal neuromuscular form Glycogenosis due to liver and
Glycogen storage disease with 79240 muscle phosphorylase kinase
Glycogen storage disease type 4,
308638 263297 severe cardiomyopathy due to deficiency
non progressive hepatic form
glycogenin deficiency Glycogenosis due to liver glycogen
Glycogen storage disease type 4, 369
308621 Glycogenosis due to acid maltase
progressive hepatic form 365 phosphorylase deficiency
deficiency Glycogenosis due to liver
368 Glycogen storage disease type 5 264580
Glycogenosis due to acid maltase phosphorylase kinase deficiency
deficiency, infantile onset Glycogenosis due to muscle and
Glycogenosis due to aldolase A heart glycogen synthase deficiency
264580 Glycogen storage disease type 9A 57
deficiency Glycogenosis due to muscle beta-
79240 Glycogen storage disease type 9B Glycogenosis due to glucose-6- 99849
79258 enolase deficiency
264580 Glycogen storage disease type 9C phosphatase deficiency type 1a Glycogenosis due to muscle
715 Glycogen storage disease type 9D Glycogenosis due to glucose-6- 368
79259 glycogen phosphorylase deficiency
715 Glycogen storage disease type 9E phosphatase deficiency type 1b Glycogenosis due to muscle
2088 Glycogen storage disease type 11 Glycogenosis due to glucose-6- 371
79258 phosphofructokinase deficiency
284426 Glycogen storage disease type 11 phosphatase deficiency type Ia Glycogenosis due to muscle
57 Glycogen storage disease type 12 Glycogenosis due to glucose-6- 715
phosphorylase kinase deficiency
→319646 Glycogen storage disease type 14 79259 phosphatase transport defect type
Glycogenosis due to
263297 Glycogen storage disease type 15 Ib →319646
phosphoglucomutase deficiency
364 Glycogen storage disease type I Glycogenosis due to GLUT2 Glycogenosis due to
2088
79259 Glycogen storage disease type Ib deficiency 713 phosphoglycerate kinase 1
365 Glycogen storage disease type II Glycogenosis due to glycogen deficiency
367
Glycogen storage disease type II, branching enzyme deficiency Glycogenosis due to
308552 Glycogenosis due to glycogen 97234
infantile onset phosphoglycerate mutase deficiency
308712 branching enzyme deficiency, adult
Glycogen storage disease type II, 2089 Glycogenosis type 0a
420429 neuromuscular form
late-onset 137625 Glycogenosis type 0b
366 Glycogen storage disease type III Glycogenosis due to glycogen
364 Glycogenosis type 1
branching enzyme deficiency,
367 Glycogen storage disease type IV 308684 79259 Glycogenosis type 1b
childhood combined hepatic and
Glycogen storage disease type IV, myopathic form 365 Glycogenosis type 2
308712
adult neuromuscular form 308552 Glycogenosis type 2, infantile onset
Glycogenosis due to glycogen
Glycogen storage disease type IV, 308698 branching enzyme deficiency, 420429 Glycogenosis type 2, late-onset
308684 childhood combined hepatic and 366 Glycogenosis type 3
childhood neuromuscular form
myopathic form 367 Glycogenosis type 4
Glycogenosis due to glycogen
Glycogen storage disease type IV, 308670 branching enzyme deficiency, Glycogenosis type 4, adult
308698
childhood neuromuscular form 308712
congenital neuromuscular form neuromuscular form
Glycogen storage disease type IV, Glycogenosis due to glycogen Glycogenosis type 4, childhood
308670
congenital neuromuscular form 308655 branching enzyme deficiency, fatal 308684 combined hepatic and myopathic
Glycogen storage disease type IV, perinatal neuromuscular form form
308655
fatal perinatal neuromuscular form Glycogenosis type 4, childhood
308698
neuromuscular form
ORPHA ORPHA ORPHA
Glycogenosis type 4, congenital Glycogenosis with severe Goniodysgenesis-intellectual
308670 2090
neuromuscular form 263297 cardiomyopathy due to glycogenin disability-short stature syndrome
Glycogenosis type 4, fatal perinatal deficiency 1482 Gonococcal conjunctivitis
308655
neuromuscular form 93598 Glycolic aciduria 3034 Gonzales-del Angel syndrome
Glycogenosis type 4, non 354 GM1 gangliosidosis 169105 Good syndrome
308638
progressive hepatic form 79255 GM1 gangliosidosis type 1 1321 Goodman camptodactyly
Glycogenosis type 4, progressive 79256 GM1 gangliosidosis type 2 65798 Goodman syndrome
308621
hepatic form 79257 GM1 gangliosidosis type 3 375 Goodpasture syndrome
368 Glycogenosis type 5 796 GM2 gangliosidosis 0 variant 75389 Goossens-Devriendt syndrome
369 Glycogenosis type 6 309246 GM2 gangliosidosis, AB variant Gordon hyperkalemia-hypertension
371 Glycogenosis type 7 757
GM2 gangliosidosis, B variant, adult syndrome
309192
264580 Glycogenosis type 9A form 376 Gordon syndrome
79240 Glycogenosis type 9B GM2 gangliosidosis, B variant, 1173 Gordon-Holmes syndrome
309178
264580 Glycogenosis type 9C infantile form 73 Gorham disease
715 Glycogenosis type 9D GM2 gangliosidosis, B variant, 73 Gorham syndrome
309185
715 Glycogenosis type 9E juvenile form 73 Gorham-Stout disease
284426 Glycogenosis type 11 845 GM2 gangliosidosis, B, B1 variant 377 Gorlin syndrome
57 Glycogenosis type 12 309239 GM2 gangliosidosis, B1 variant 2095 Gorlin-Chaudhry-Moss syndrome
99849 Glycogenosis type 13 101006 GM2 synthase deficiency 377 Gorlin-Goltz syndrome
→319646 Glycogenosis type 14 626 GMN 66629 GOSHS
263297 Glycogenosis type 15 2090 GMS syndrome GOSR2-related progressive
53697 Gnathodiaphyseal dysplasia 280620
364 Glycogenosis type I myoclonus ataxia
79258 Glycogenosis type Ia 602 GNE myopathy 2500 Gottron syndrome
79259 Glycogenosis type Ib 100075 GNET 59135 Gowers disease
365 Glycogenosis type II 79272 GNS deficiency 900 GPA
308552 Glycogenosis type II, infantile onset 329984 Goblet cell adenocarcinoid 529665 GPAA1-related biosynthesis defect
420429 Glycogenosis type II, late-onset 329984 Goblet cell carcinoid 280586 gPAPP deficiency
366 Glycogenosis type III 329984 Goblet cell carcinoma 247353 GPP
367 Glycogenosis type IV 329984 Goblet cell tumor 721 GPS
Glycogenosis type IV, adult 705 Goiter-deafness syndrome 313808 GPSC
308712
neuromuscular form 373 Golabi-Rosen syndrome 403 GRA
Glycogenosis type IV, childhood 351 Goldberg syndrome 2763 Gracile bone dysplasia
308684 combined hepatic and myopathic Goldberg-Shprintzen megacolon 53693 GRACILE syndrome
66629
form syndrome 39812 Graft versus host disease
Glycogenosis type IV, childhood 166272 Goldblatt chondrodysplasia 505 Graham Little syndrome
308698
neuromuscular form 166272 Goldblatt syndrome Graham Little-Piccardi-Lassueur
Glycogenosis type IV, congenital 3026 Goldblatt-Viljoen syndrome 505
308670 syndrome
neuromuscular form 2261 Goldblatt-Wallis syndrome 2111 Graham-Boyle-Troxell syndrome
Glycogenosis type IV, fatal perinatal 374 Goldenhar syndrome
308655 52055 Graham-Cox syndrome
neuromuscular form 53540 Goldmann-Favre syndrome →247691 Grand-Kaine-Fulling syndrome
Glycogenosis type IV, non 3032 Goldston syndrome
308638 79094 Grange occlusive arterial syndrome
progressive hepatic form
1791 Gollop syndrome 79094 Grange syndrome
Glycogenosis type IV, progressive
308621 1986 Gollop-Wolfgang complex 2097 Grant syndrome
hepatic form
2092 Goltz syndrome 98962 Granular corneal dystrophy type 1
264580 Glycogenosis type IXa
2092 Goltz-Gorlin syndrome 98963 Granular corneal dystrophy type 2
79240 Glycogenosis type IXb
1532 Gómez-López-Hernández syndrome 98961 Granular corneal dystrophy type 3
264580 Glycogenosis type IXc
206484 Gonadoblastoma 98962 Granular corneal dystrophy type I
715 Glycogenosis type IXd
91348 Gonadotroph adenoma 98963 Granular corneal dystrophy type II
715 Glycogenosis type IXe
432 Gonadotropic deficiency 98961 Granular corneal dystrophy type III
368 Glycogenosis type V
Gonadotropin-dependant 98963 Granular-lattice corneal dystrophy
369 Glycogenosis type VI 759
precocious puberty 86850 Granulocytic sarcoma
371 Glycogenosis type VII
Gonadotropin-independent female- 900 Granulomatosis with polyangiitis
57 Glycogenosis type XII 562
limited sexual precocity 183 Granulomatous allergic angiitis
→319646 Glycogenosis type XIV
263297 Glycogenosis type XV 64722 Granulomatous mastitis
ORPHA ORPHA ORPHA
33111 Granulomatous slack skin Growth restriction-aminoaciduria- 34587 GSD due to LAMP-2 deficiency
99915 Granulosa cell cancer 53693 cholestasis-iron overload-lactic GSD due to liver and muscle
79240
99915 Granulosa cell malignant tumor acidosis-early death syndrome phosphorylase kinase deficiency
69665 Gravidic intrahepatic cholestasis Growth retardation-mild GSD due to liver glycogen
369
721 Gray platelet syndrome 391366 developmental delay-chronic phosphorylase deficiency
Grayson-Wilbrandt corneal hepatitis syndrome GSD due to liver phosphorylase
293375 264580
dystrophy Grubben-de Cock-Borghgraef kinase deficiency
2101
276405 Green jaundice syndrome GSD due to muscle and heart
137625
411777 Grzybowski syndrome glycogen synthase deficiency
99826 Green monkey disease
365 GSD due to acid maltase deficiency GSD due to muscle beta-enolase
1426 Greenberg dysplasia 99849
Greig cephalopolysyndactyly GSD due to acid maltase deficiency, deficiency
308552
380 infantile onset GSD due to muscle glycogen
syndrome 368
495 Greither disease GSD due to acid maltase deficiency, phosphorylase deficiency
420429
late-onset GSD due to muscle
97261 GRF tumor 371
57 GSD due to aldolase A deficiency phosphofructokinase deficiency
97261 GRFoma
364 GSD due to G6P deficiency GSD due to muscle phosphorylase
139474 Grisart-Destrée syndrome 715
79258 GSD due to G6P deficiency type 1a kinase deficiency
381 Griscelli syndrome
79259 GSD due to G6P deficiency type 1b GSD due to phosphoglucomutase
79476 Griscelli syndrome type 1 →319646
79258 GSD due to G6P deficiency type Ia deficiency
79477 Griscelli syndrome type 2
79259 GSD due to G6P deficiency type Ib GSD due to phosphoglycerate
79478 Griscelli syndrome type 3 713
79259 GSD due to G6PT deficiency kinase 1 deficiency
381 Griscelli-Pruniéras syndrome GSD due to phosphoglycerate
2088 GSD due to GLUT2 deficiency 97234
79476 Griscelli-Pruniéras syndrome type 1 mutase deficiency
GSD due to glycogen branching
79477 Griscelli-Pruniéras syndrome type 2 367 2089 GSD type 0a
enzyme deficiency
79478 Griscelli-Pruniéras syndrome type 3 137625 GSD type 0b
3217 Groll-Hirschowitz syndrome 364 GSD type 1
308712 enzyme deficiency, adult
Gronblad-Strandberg-Touraine neuromuscular form 79259 GSD type 1 non a
758
syndrome GSD due to glycogen branching 79258 GSD type 1a
314613 Growing teratoma syndrome
enzyme deficiency, childhood 79259 GSD type 1b
Growth and developmental delay- 308684
combined hepatic and myopathic 365 GSD type 2
391348 hypotonia-vision impairment-lactic form 308552 GSD type 2, infantile onset
acidosis syndrome GSD due to glycogen branching 420429 GSD type 2, late-onset
Growth deficiency-brachydactyly- 308698 enzyme deficiency, childhood
→264200 366 GSD type 3
dysmorphism syndrome neuromuscular form 367 GSD type 4
Growth delay due to insulin-like GSD due to glycogen branching
73273 GSD type 4, adult neuromuscular
growth factor I resistance 308670 enzyme deficiency, congenital 308712
form
Growth delay due to insulin-like neuromuscular form
73272 GSD type 4, childhood combined
growth factor type 1 deficiency GSD due to glycogen branching 308684
hepatic and myopathic form
Growth delay-alopecia- 308655 enzyme deficiency, fatal perinatal
2067 pseudoanodontia-optic atrophy GSD type 4, childhood
neuromuscular form 308698
syndrome neuromuscular form
Growth delay-aminoaciduria- GSD type 4, congenital
308638 enzyme deficiency, non progressive 308670
53693 cholestasis-iron overload-lactic neuromuscular form
hepatic form
acidosis-early death syndrome GSD type 4, fatal perinatal
GSD due to glycogen branching 308655
Growth delay-deafness-intellectual neuromuscular form
73272
308621 enzyme deficiency, progressive
disability syndrome hepatic form GSD type 4, non progressive hepatic
308638
Growth delay-hydrocephaly-lung form
3035 GSD due to glycogen debranching
366 GSD type 4, progressive hepatic
hypoplasia syndrome enzyme deficiency 308621
Growth hormone and prolactin form
314769 GSD due to hepatic glycogen
2089 368 GSD type 5
cosecreting pituitary adenoma synthase deficiency
Growth hormone receptor GSD due to lactate dehydrogenase
369 GSD type 6
633 2364 371 GSD type 7
deficiency deficiency
Growth hormone releasing factor GSD due to lactate dehydrogenase 264580 GSD type 9A
97261 284435
tumor H-subunit deficiency 79240 GSD type 9B
GSD due to lactate dehydrogenase 264580 GSD type 9C
284426
M-subunit deficiency 715 GSD type 9D
ORPHA ORPHA ORPHA
715 GSD type 9E Guillain-Barré syndrome, acute Hallermann-Streiff-François
2109
97234 GSD type 10 98916 inflammatory demyelinating syndrome, severe form
2088 GSD type 11 polyradiculoneuropathic form 2109 Hallermann-Streiff-like syndrome
284426 GSD type 11 231 Guinea worm disease 157850 Hallervorden-Spatz syndrome
57 GSD type 12 Guízar Vázquez-Luengas-Muñoz Hallux varus-preaxial polysyndactyly
1661 2110
→319646 GSD type 14 syndrome syndrome
263297 GSD type 15 Guízar Vázquez-Sánchez-Manzano 3453 HAM syndrome
2104
364 GSD type I syndrome 289326 HAM/TSP
79259 GSD type Ib
1562 Gunal-Seber-Basaran syndrome 314555 Hamamy syndrome
79277 Günther disease 2926 Hamanishi-Ueba-Tsuji syndrome
365 GSD type II
1858 Gurrieri-Sammito-Bellussi syndrome 1217 Hamano-Tsukamoto syndrome
308552 GSD type II, infantile onset
420429 GSD type II, late-onset Guttate hypopigmentation and 2869 Hamartomatous intestinal polyposis
324561
punctate palmoplantar keratoderma Hamel cerebro-palato-cardiac
367 GSD type IV 93946
2957 Guttmacher syndrome syndrome
264580 GSD type IXa
39812 GVH 79126 Hamman-Rich syndrome
79240 GSD type IXb
293375 GWCD 73229 HANAC syndrome
264580 GSD type IXc
99914 Gynandroblastoma Hand and foot deformity-flat facies
715 GSD type IXd 1927
Gyrate atrophy of choroid and syndrome
715 GSD type IXe 414
retina 2438 Hand-foot-genital syndrome
368 GSD type V
168569 H syndrome 2438 Hand-foot-uterus syndrome
369 GSD type VI
139441 H-ABC 99873 Hand-Schüller-Christian disease
371 GSD type VII
454750 H-type tracheoesophageal fistula 989 Hanhart syndrome
2088 GSD type XI
2396 Haberland syndrome 186 Hanot syndrome
57 GSD type XII
99803 Haddad syndrome 340 Hantavirosis
263297 GSD type XV
217026 Hadziselimovic syndrome 340 Hantavirus fever
GSD with severe cardiomyopathy
263297 100050 HAE 1 319247 Hantavirus pulmonary syndrome
due to glycogenin deficiency
100051 HAE 2 3294 Hapnes-Boman-Skeie syndrome
79258 GSDIa
100054 HAE 3 2967 Haptocorrin deficiency
79259 GSDIb
528623 HAE with C1 inhibitor deficiency 1490 Harboyan syndrome
366 GSDIII
528623 HAE with C1Inh deficiency 2812 Hard skin syndrome, Parana type
308712 GSDIV, adult neuromuscular form
528647 HAE with normal C1 inhibitor 899 HARD syndrome
GSDIV, childhood combined hepatic
308684 528647 HAE with normal C1Inh 85182 Hardcastle syndrome
and myopathic form
GSDIV, childhood neuromuscular
100050 HAE-I 1415 Hardikar syndrome
308698 100051 HAE-II
form 1177 Harding ataxia
GSDIV, congenital neuromuscular 100054 HAE-III 496790 Harel-Yoon syndrome
308670 966 HAFF
form 457 Harlequin ichthyosis
GSDIV, fatal perinatal 79263 Hagberg-Santavuori disease 199282 Harlequin syndrome
308655
neuromuscular form 2841 Hailey-Hailey disease →216866 HARP syndrome
GSDIV, non progressive hepatic 2342 Haim-Munk syndrome 2115 Harrod syndrome
308638
form Hair defect-photosensitivity- 2116 Hartnup disease
1408
308621 GSDIV, progressive hepatic form intellectual disability syndrome 2116 Hartnup disorder
99849 GSDXIII 69084 Hair-nail ectodermal dysplasia 2117 Hartsfield syndrome
→319646 GSDXIV 300878 Hairy cell leukemia variant 84085 HAS
2102 GTP cyclohydrolase I deficiency 2220 Hairy elbows syndrome 83601 Hashimoto encephalitis
GTPCH1-deficient dopa-responsive 3387 Hairy throat syndrome 99872 Hashimoto-Pritzker syndrome
98808
dystonia 955 Hajdu-Cheney syndrome Haspeslagh-Fryns-Muelenaere
98808 GTPCH1-deficient DRD 2157 HAL deficiency 2994
syndrome
2102 GTPCH deficiency 2985 Hal-Berg-Rudolph syndrome 3325 HAT
90020 Guam disease 1809 Halal-Setton-Wang syndrome 2118 Hawkinsinuria
319234 Guanarito hemorrhagic fever 185 Halasz syndrome 1071 Hay-Wells syndrome
Guanidinoacetate 138 Hall-Hittner syndrome 163596 Hb Bart's hydrops fetalis
382
methyltransferase deficiency 2107 Hall-Riggs syndrome 231242 HbC-beta-thalassemia syndrome
2785 Guibaud-Vainsel syndrome 2108 Hallermann-Streiff syndrome 231249 HbE-beta-thalassemia syndrome
93616 HbH disease
ORPHA ORPHA ORPHA
352657 HBID 3377 Hecht-Beals syndrome 90039 Hemoglobin D disease
HbLepore-beta-thalassemia 2492 Hecht-Scott syndrome 2133 Hemoglobin E disease
330032
syndrome 238468 HED Hemoglobin E-beta-thalassemia
231249
251359 HbS-beta-thalassemia syndrome 98813 HED-ID syndrome
251365 HbSC disease 1882 HEDH syndrome 93616 Hemoglobin H disease
251370 HbSD disease 2787 Heide syndrome Hemoglobin Lepore-beta-
330032
251375 HbSE disease 3220 Heimler syndrome thalassemia syndrome
363412 HBSL 99932 Heiner syndrome 330041 Hemoglobin M disease
86864 HCD 178330 Heinz body anemia 280615 Hemoglobinopathy Toms River
93556 HCDD Helicoid peripapillary chorioretinal Hemolysis, elevated liver enzymes,
86813 244242
85458 HCHWA degeneration low platelets in pregnancy
324723 HCHWA, Arctic type 528105 HELIX syndrome Hemolysis-elevated liver enzymes-
244242
100006 HCHWA, Dutch type 168782 Heller syndrome low platelets syndrome
324718 HCHWA, Flemish type 244242 HELLP syndrome Hemolytic anemia due to adenylate
86817
100008 HCHWA, Icelandic type 404448 Helsmoortel-Van Der Aa Syndrome kinase deficiency
324708 HCHWA, Iowa type 1426 HEM dysplasia Hemolytic anemia due to
714 diphosphoglycerate mutase
324713 HCHWA, Italian type 252054 Hemangioblastoma
deficiency
324703 HCHWA, Piedmont type Hemangioma-thrombocytopenia
2330 Hemolytic anemia due to
100006 HCHWA-D syndrome
99138 erythrocyte adenosine deaminase
58017 HCL-C Hematopoietic stem cell overproduction
90053
300878 HCL-v transplantation
Hemolytic anemia due to
163690 HCS 2128 Hemi 3 syndrome 712 glucophosphate isomerase
306741 HD-HA syndrome Hemiconvulsion-hemiplegia- deficiency
86908
26106 HDGC epilepsy syndrome Hemolytic anemia due to
2128 Hemicorporal hypertrophy 90030
157941 HDL1 glutathione reductase deficiency
98934 HDL2 443070 Hemicrania continua Hemolytic anemia due to pyrimidine
Hemidystonia-hemiatrophy 35120
157946 HDL3 306741 5' nucleotidase deficiency
98759 HDL4 syndrome Hemolytic anemia due to red cell
1214 766
313808 HDLS Hemifacial atrophy pyruvate kinase deficiency
2237 HDR syndrome
141145 Hemifacial hyperplasia Hemolytic disease of the newborn
275944
402823 HDV Hemifacial hyperplasia-strabismus with Kell alloimmunization
1241
syndrome Hemolytic-uremic syndrome with
288 HE 90038
141145 Hemifacial hypertrophy diarrhea
Hearing loss-encephaloneuropathy-
254898 141136 Hemifacial microsomia Hemolytic-uremic syndrome
obesity-valvulopathy syndrome 2134
Hearing loss-familial salivary gland Hemifacial microsomia-radial without diarrhea
2549
3225 insensitivity to aldosterone defects syndrome Hemolytic-uremic syndrome
syndrome 141148 Hemifacial myohyperplasia 93581 without diarrhea with anti-factor H
Heart defect-tongue hamartoma- 221083 Hemifacial spasm antibodies
1338 Hemihyperplasia-multiple Hemolytic-uremic syndrome
polysyndactyly syndrome 276280
lipomatosis syndrome 93578 without diarrhea with B factor
Heart defects-limb shortening
1354 99802 Hemimegalencephaly anomaly
syndrome
875 Heart tumor of child Hemiparkinsonism-hemiatrophy Hemolytic-uremic syndrome
306669 93575
syndrome without diarrhea with C3 anomaly
392 Heart-hand syndrome type 1
99050 Hemitruncus arteriosus Hemolytic-uremic syndrome
1350 Heart-hand syndrome type 2
Hemochromatosis due to defect in 357008 without diarrhea with DGKE
1342 Heart-hand syndrome type 3 139491
ferroportin deficiency
Heart-hand syndrome, Slovenian Hemolytic-uremic syndrome
168796 79230 Hemochromatosis type 2
type 93579 without diarrhea with H factor
1342 Heart-hand syndrome, Spanish type 225123 Hemochromatosis type 3
anomaly
1342 139491 Hemochromatosis type 4
Heart-limb syndrome type 3 Hemolytic-uremic syndrome
442582 Heavy chain amyloidosis 447792 Hemochromatosis type 5
93580 without diarrhea with I factor
93556 Heavy chain deposition disease 163596 Hemoglobin Bart's hydrops fetalis anomaly
86864 Heavy chain disease 2132 Hemoglobin C disease Hemolytic-uremic syndrome
2119 HEC syndrome Hemoglobin C-beta-thalassemia 93576 without diarrhea with MCP/CD46
231242
3377 Hecht syndrome syndrome anomaly
ORPHA ORPHA ORPHA
Hemolytic-uremic syndrome 905 Hepatolenticular degeneration Hereditary articular
1416
217023 without diarrhea with 64743 Hepatoportal sclerosis chondrocalcinosis
thrombomodulin anomaly 364 Hepatorenal glycogenosis Hereditary benign corneal
352657
Hemophagocytic syndrome 882 Hepatorenal tyrosinemia intraepithelial dyskeratosis
158048
associated with an infection 86882 Hepatosplenic T-cell lymphoma Hereditary benign intraepithelial
352657
98878 Hemophilia A Hereditary acrokeratotic dyskeratosis
98879 Hemophilia B 2907 221061 Hereditary brain cavernous angioma
poikiloderma
329 Hemophilia C Hereditary acrokeratotic Hereditary brain cavernous
306539 221061
Hemorrhagic disease due to alpha- poikiloderma of Kindler-Weary hemangioma
178396
1-antitrypsin Pittsburgh mutation Hereditary adult-onset painful Hereditary breast and ovarian
447964 145
340 Hemorrhagic fever-renal syndrome axonal polyneuropathy cancer syndrome
Hemorrhagiparous thrombocytic 85450 Hereditary amyloid nephropathy 227535 Hereditary breast cancer
274
dystrophy Hereditary amyloid nephropathy 227535 Hereditary breast carcinoma
93560
Hemosiderosis of the central due to apolipoprotein A-I variant Hereditary bullous dystrophy,
247245 1867
nervous system Hereditary amyloid nephropathy macular type
238269
324632 Hendra virus infection due to apolipoprotein A-II variant 871 Hereditary bundle branch defect
2136 Hennekam syndrome Hereditary amyloid nephropathy 36382 Hereditary CAD
2135 Hennekam-Beemer syndrome 93562 due to fibrinogen A alpha-chain Hereditary calcium pyrophosphate
1416
761 Henoch-Schönlein purpura variant deposition
95159 HEP Hereditary amyloid nephropathy 1416 Hereditary CC
93561
79269 Heparan sulfamidase deficiency due to lysozyme variant 30925 Hereditary CDI
Heparan-alpha-glucosaminide N- Hereditary amyloidosis with Hereditary central diabetes
79271 85450 30925
acetyltransferase deficiency primary renal involvement insipidus
Heparin-associated 85448 Hereditary amyloidosis, Finnish type 221061 Hereditary cerebral cavernoma
3325
thrombocytopenia 228277 Hereditary anetoderma Hereditary cerebral cavernous
221061
3325 Heparin-induced thrombocytopenia 100050 Hereditary angioedema type 1 malformation
Heparin-induced thrombocytopenia 100051 Hereditary angioedema type 2 Hereditary cerebral hemorrhage
3325 85458
type 2 100054 Hereditary angioedema type 3 with amyloidosis
Hepatic carnitine palmitoyl Hereditary angioedema with C1Inh Hereditary cerebral hemorrhage
156 528623 324723
transferase 1 deficiency deficiency with amyloidosis, Arctic type
Hepatic carnitine palmitoyl Hereditary angioedema with normal Hereditary cerebral hemorrhage
156 528647 100006
transferase I deficiency C1 inhibitor with amyloidosis, Dutch type
386 Hepatic cystic hamartoma Hereditary angioedema with normal Hereditary cerebral hemorrhage
528647 324718
Hepatic fibrosis-renal cysts- C1Inh with amyloidosis, Flemish type
2031
intellectual disability syndrome Hereditary angioneurotic edema Hereditary cerebral hemorrhage
100050 100008
Hepatic glycogen phosphorylase type 1 with amyloidosis, Icelandic type
369
deficiency Hereditary angioneurotic edema Hereditary cerebral hemorrhage
100051 324708
369 Hepatic phosphorylase deficiency type 2 with amyloidosis, Iowa type
100035 Hepatic solitary necrotic nodule Hereditary angioneurotic edema Hereditary cerebral hemorrhage
100054 324713
890 Hepatic veno-occlusive disease type 3 with amyloidosis, Italian type
Hepatic veno-occlusive disease- Hereditary angioneurotic edema Hereditary cerebral hemorrhage
79124 528623 324703
immunodeficiency syndrome with C1 inhibitor deficiency with amyloidosis, Piedmont type
Hepatitis B reinfection following Hereditary angioneurotic edema 48818 Hereditary ceruloplasmin deficiency
90073 528623
liver transplantation with C1Inh deficiency 36382 Hereditary cervical artery dissection
402823 Hepatitis D virus Hereditary angioneurotic edema 53372 Hereditary chin myoclonus
528647
402823 Hepatitis delta with normal C1 inhibitor 53372 Hereditary chin-trembling
449 Hepatoblastoma Hereditary angioneurotic edema 676 Hereditary chronic pancreatitis
528647
54272 Hepatocellular adenoma with normal C1Inh Hereditary clear cell renal cell
422526
529852 Hepatocholangiocarcinoma Hereditary angiopathy- adenocarcinoma
73229 nephropathy-aneurysms-muscle Hereditary clear cell renal cell
Hepatoencephalopathy due to 422526
cramps syndrome carcinoma
137681 combined oxidative phosphorylation
defect type 1 Hereditary areflexic dystasia, Hereditary clubfoot due to 5q31
3115 293144
Roussy-Lévy type microdeletion
Hepatoencephalopathy due to
137681 Hereditary arterial and articular Hereditary clubfoot due to 17q23.1-
COXPD1 289601 238578
multiple calcification syndrome q23.2 microduplication
95159 Hepatoerythropoietic porphyria
ORPHA ORPHA ORPHA
Hereditary clubfoot due to PITX1 Hereditary hemorrhagic Hereditary motor and sensory
293150 774 773
point mutation telangiectasia neuropathy type 4
Hereditary combined deficiency of Hereditary hollow visceral Hereditary motor and sensory
98434 2604 64751
factors II, VII, IX and X myopathy neuropathy type 5
Hereditary combined deficiency of Hereditary hypercarotenemia and Hereditary motor and sensory
98434 199285 90120
vitamin K-dependent clotting factors vitamin A deficiency neuropathy type 6
Hereditary congenital controlateral 238475 Hereditary hypercholanemia Hereditary motor and sensory
238722 64748
synkinesia 3197 Hereditary hyperekplexia neuropathy type III
Hereditary congenital mirror 3197 Hereditary hyperexplexia Hereditary motor and sensory
238722 773
movements Hereditary hyperferritinemia with neuropathy type IV
163
Hereditary continuous muscle fiber congenital cataracts Hereditary motor and sensory
972 64751
activity Hereditary hyperferritinemia- neuropathy type V
163
79273 Hereditary coproporphyria cataract syndrome Hereditary motor and sensory
90120
60015 Hereditary cranium bifidum 2801 Hereditary hyperphosphatasia neuropathy type VI
168577 Hereditary cryohydrocytosis type 2 Hereditary hypophosphatemic Hereditary motor and sensory
157215 90119
Hereditary cryohydrocytosis with rickets with hypercalciuria neuropathy with acrodystrophy
398088
normal stomatin 55654 Hereditary hypotrichosis simplex Hereditary motor and sensory
Hereditary cryohydrocytosis with Hereditary hypotrichosis simplex of neuropathy with deafness,
168577 90368 90103
reduced stomatin the scalp intellectual disability and absent
Hereditary crystalline stromal Hereditary hypotrichosis with sensory large myelinated fibers
98967 217407 Hereditary motor and sensory
dystrophy of Schnyder recurrent skin vesicles 99950
Hereditary cystatin C amyloid Hereditary inclusion body myopathy neuropathy, Lom type
angiopathy type 2 90117
Hereditary diffuse cancer of Hereditary inclusion body myopathy neuropathy, Okinawa type
stomach type 3 90117
Hereditary diffuse gastric Hereditary inclusion body myopathy neuropathy, proximal type
26106 324381
adenocarcinoma type 4 Hereditary motor and sensory
99953
26106 Hereditary diffuse gastric cancer Hereditary inclusion body myopathy neuropathy, Russe Type
178464 1839 Hereditary mucoepithelial dysplasia
Hereditary diffuse with early respiratory failure
313808 leukoencephalopathy with axonal Hereditary inclusion body 171723 Hereditary mucosal leukokeratosis
spheroids and pigmented glia 79091 myopathy-joint contractures- 136 Hereditary multi-infarct dementia
Hereditary diffuse ophthalmoplegia syndrome →3460 Hereditary multicentric osteolysis
313808
leukoencephalopathy with spheroids 300373 Hereditary infantile gigantism Hereditary multiple cutaneous
523
288 Hereditary elliptocytosis 397692 Hereditary isolated aplastic anemia leiomyomas
Hereditary endotheliopathy- Hereditary juvenile megaloblastic 83454 Hereditary multiple glomangiomas
→247691 retinopathy-nephropathy-stroke 332 anemia due to intrinsic factor Hereditary myoclonus-progressive
2590
syndrome deficiency distal muscular atrophy syndrome
Hereditary erythroblastic 2334 Hereditary keratitis Hereditary myopathy with early
178464
98873 multinuclearity with a positive 493 Hereditary keratoacanthoma respiratory failure
acidified-serum test (hempas) Hereditary late-onset Parkinson Hereditary myopathy with lactic
411602 43115
36899 Hereditary essential myoclonus disease acidosis due to ISCU deficiency
Hereditary expansile polyostotic 523 Hereditary leiomyomatosis Hereditary neurocutaneous
85195 1062
osteolytic dysplasia Hereditary leiomyomatosis and malformation
157846 Hereditary ferritinopathy 523 Hereditary neuroendocrine tumor
renal cell cancer 456333
Hereditary fibrosing poikiloderma- Hereditary leiomyomatosis with of small bowel
221043 tendon contractures-myopathy- 523 Hereditary neuroendocrine tumor
renal carcinoma 456333
pulmonary fibrosis syndrome 79452 Hereditary lymphedema type I of small intestine
90045 Hereditary folate malabsorption 90186 Hereditary lymphedema type II Hereditary neurogenic diabetes
30925
469 Hereditary fructose intolerance 228277 Hereditary macular atrophy insipidus
Hereditary fructose-1-phosphate 621 Hereditary methemoglobinemia Hereditary neuropathy with liability
469 640
aldolase deficiency to pressure palsies
Hereditary mixed polyposis
469 Hereditary fructosemia 157794 279943 Hereditary neutrophilia
syndrome
53372 Hereditary geniospasm Hereditary motor and sensory Hereditary North American Indian
168583
2024 64748 childhood cirrhosis
Hereditary gingival fibromatosis neuropathy type 3
2024 Hereditary gingival hyperplasia 56 Hereditary ochronosis
30 Hereditary orotic aciduria
ORPHA ORPHA ORPHA
98868 Hereditary ovalocytosis Hereditary sensorimotor Hereditary spastic paraparesis type
280598 100996
79141 Hereditary painful callosities neuropathy with hyperelastic skin 15
Hereditary palmoplantar Hereditary sensory and autonomic 822 Hereditary spherocytosis
320385
86923 hyperkeratosis, Gamborg-Nielsen neuropathy due to TECPR2 mutation Hereditary thermosensitive
84093
type Hereditary sensory and autonomic neuropathy
36386
Hereditary palmoplantar neuropathy type 1 71493 Hereditary thrombocythemia
86923
keratoderma, Gamborg-Nielsen type Hereditary sensory and autonomic Hereditary thrombocytopenia with
480851
Hereditary papillary renal cell 139564 neuropathy type 1 with cough and early-onset myelofibrosis
47044
carcinoma gastroesophageal reflux Hereditary thrombocytopenia with
268322
99878 Hereditary parathyroids hyperplasia Hereditary sensory and autonomic normal platelets
139564
Hereditary pediatric Behçet-like neuropathy type 1B Hereditary thrombocytopenia with
476102
disease Hereditary sensory and autonomic 71290 normal platelets-hematological
970
Hereditary persistence of alpha- neuropathy type 2 cancer predisposition syndrome
168615
fetoprotein Hereditary sensory and autonomic Hereditary thrombocytosis with
1764 329319
Hereditary persistence of fetal neuropathy type 3 transverse limb defect
46532 hemoglobin-beta-thalassemia Hereditary sensory and autonomic Hereditary thrombophilia due to
642 82
syndrome neuropathy type 4 congenital antithrombin 3 deficiency
Hereditary persistence of fetal Hereditary sensory and autonomic Hereditary thrombophilia due to
64752 82
251380 hemoglobin-sickle cell disease neuropathy type 5 congenital antithrombin deficiency
syndrome Hereditary sensory and autonomic Hereditary thrombophilia due to
314381
Hereditary pheochromocytoma- neuropathy type 6 217467 congenital histidine-rich (poly-L)
29072
paraganglioma Hereditary sensory and autonomic glycoprotein deficiency
391397
300373 Hereditary pituitary hyperplasia neuropathy type 7 Hereditary thrombophilia due to
217467
Hereditary polymorphous light Hereditary sensory and autonomic congenital HRG deficiency
330061 478664
eruption of American Indians neuropathy type 8 Hereditary unconjugated
205
Hereditary prepubertal Hereditary sensory and autonomic hyperbilirubinemia
178345 36386
gynecomastia neuropathy type I Hereditary unconjugated
79234
Hereditary progressive Hereditary sensory and autonomic hyperbilirubinemia type 1
828 139564
arthroophthalmopathy neuropathy type IB Hereditary unconjugated
79235
Hereditary progressive dystonia Hereditary sensory and autonomic hyperbilirubinemia type 2
98808 970
with marked diurnal fluctuation neuropathy type II →247691 Hereditary vascular retinopathy
Hereditary progressive mucinous Hereditary sensory and autonomic Hereditary vascular retinopathy-
158025 1764
histiocytosis neuropathy type III →247691 Raynaud phenomenon-migraine
Hereditary pulmonary alveolar Hereditary sensory and autonomic syndrome
264675 642
proteinosis neuropathy type IV Hereditary vitamin D-resistant
93160
Hereditary pulmonary alveolar Hereditary sensory and autonomic rickets
64752
440427 proteinosis with hepatic neuropathy type V 903 Hereditary von Willebrand disease
involvement Hereditary sensory and autonomic 98805 Hereditary whispering dysphonia
314381
Hereditary pulmonary arterial neuropathy type VI 170 Hereditary woolly hair syndrome
275777
hypertension Hereditary sensory and autonomic 170 Hereditary wooly hair syndrome
391397
→288 Hereditary pyropoikilocytosis neuropathy type VII 3467 Hereditary xanthinuria
85450 Hereditary renal amyloidosis Hereditary sensory and autonomic 3202 Hereditary xerocytosis
478664
Hereditary renal amyloidosis due to neuropathy type VIII Heredopathia atactica
93560 773
apolipoprotein A-I variant Hereditary sensory and autonomic polyneuritiformis
Hereditary renal amyloidosis due to 139573 neuropathy with deafness and
238269 Heritable pulmonary arterial
apolipoprotein A-II variant global delay 275777
hypertension
Hereditary renal amyloidosis due to Hereditary sensory and autonomic 3411 Herlyn-Werner syndrome
93562 391397 neuropathy with hyperhidrosis and
fibrinogen A alpha-chain variant 79430 Hermansky-Pudlak syndrome
Hereditary renal amyloidosis due to gastrointestinal dysfunction
93561 183678 Hermansky-Pudlak syndrome type 2
lysozyme variant Hereditary sensory neuropathy-
456318 231531 Hermansky-Pudlak syndrome type 7
94088 Hereditary renal hypouricemia deafness-dementia syndrome
231537 Hermansky-Pudlak syndrome type 8
Hereditary resistance to anti- Hereditary sensory neuropathy-
788
vitamin K 456318 sensorineural hearing loss-dementia 280663 Hermansky-Pudlak syndrome type 9
syndrome Hermansky-Pudlak syndrome with
357027 Hereditary retinoblastoma 183678
Hereditary site-specific ovarian neutropenia
Hereditary sclerosing poikiloderma, 213524
221039 cancer syndrome
Weary type
ORPHA ORPHA ORPHA
Hermansky-Pudlak syndrome with 435 HI syndrome 388 Hirschsprung disease
231500
pulmonary fibrosis 35878 HI/HA syndrome Hirschsprung disease and
Hermansky-Pudlak syndrome 88639 HIBCH deficiency 261537 intellectual disability due to 2q22
231512
without pulmonary fibrosis 602 HIBM2 microdeletion
Hernández-Aguirre Negrete 79091 HIBM3 Hirschsprung disease and
2139
syndrome 324381 HIBM4 261552 intellectual disability due to a ZEB2
2786 Hernández-Fragoso syndrome 178464 HIBM-ERF point mutation
→247691 HERNS syndrome 189 Hidrotic ectodermal dysplasia Hirschsprung disease and
Herpes simplex meningo- 261537 intellectual disability due to
1930 Hidrotic ectodermal dysplasia,
encephalitis 1808 del(2)(q22)
Christianson-Fourie type
1930 Herpes simplex neuroinvasion Hirschsprung disease and
Hidrotic ectodermal dysplasia, Halal
1930 Herpes simplex virus encephalitis 1809 261537 intellectual disability due to
type
1930 Herpetic encephalitis monosomy 2q22
343 HIDS
208524 Herpetiform pemphigus Hirschsprung disease-deafness-
137577 HIE 2155
polydactyly syndrome
369 Hers disease 330012 High altitude pulmonary edema Hirschsprung disease-
1486 Herva disease 171201 High anorectal malformation 2151
ganglioneuroblastoma syndrome
314970 HES-L 314029 High bone mass OI Hirschsprung disease-intellectual
314950 HES-M High bone mass osteogenesis 2152
314029 disability syndrome
314950 HES-N imperfecta Hirschsprung disease-nail
314962 HES-R High grade B-cell lymphoma with 2153
hypoplasia-dysmorphism syndrome
Heterozygous microdeletion 480541 MYC and/ or BCL2 and/or BCL6 Hirschsprung disease-type D
640 2150
17p11.2p12 rearrangement brachydactyly syndrome
3450 Heterozygous OSMED High myopia-sensorineural deafness Hirsutism-congenital gingival
363396 2026
Heterozygous syndrome hyperplasia syndrome
3450 otospondylomegaepiphyseal 3181 High scapula 3283 His bundle tachycardia
dysplasia High-grade dysplasia in patients 2157 HIS deficiency
231080
845 Hexosaminidase A deficiency with Barrett esophagus 2157 Histidase deficiency
Hexosaminidase A deficiency, adult 251646 High-grade ependymoma 2157 Histidine ammonia-lyase deficiency
309192
form High-grade neuroendocrine
213777 2157 Histidinemia
Hexosaminidase A deficiency, B1 carcinoma of the cervix uteri
309239 2157 Histidinuria
variant High-grade neuroendocrine
213731 Histidinuria-renal tubular defect
Hexosaminidase A deficiency, carcinoma of the corpus uteri 2158
309178 syndrome
infantile form High-grade neuroendocrine
213777 Histiocytic necrotizing
Hexosaminidase A deficiency, carcinoma of the uterine cervix 50918
309185 lymphadenitis
juvenile form High-grade neuroendocrine
213731 86896 Histiocytic sarcoma
309246 Hexosaminidase activator deficiency carcinoma of the uterine corpus
137675 Histiocytoid cardiomyopathy
796 Hexosaminidases A and B deficiency 101088 HIGM1
390 Histoplasmosis
Hexosaminidases A and B 101089 HIGM2
309169 3325 HIT
deficiency, adult form 101090 HIGM3
→138 Hittner-Hirsch-Kreh syndrome
Hexosaminidases A and B 101091 HIGM4
309155 443291 HIV-associated cancer
deficiency, infantile form 101092 HIGM5
443291 HIV-related cancer
Hexosaminidases A and B HIGM with susceptibility to
309162 183663 1573 HJMD
deficiency, juvenile form opportunistic infections
1041 HF HIGM without susceptibility to
572 HLA class 2-negative SCID
183666 HLA class 2-negative severe
2438 HFGS opportunistic infections 572
2744 HGPPS 99978 Hilar CCA combined immunodeficiency
740 HGPS 99978 Hilar cholangiocarcinoma
2248 HLHS
79271 HGSNAT deficiency →444490 HLP type 1
84085 Hinman syndrome
163 HHCS 412 HLP type 3
84085 Hinman-Allen syndrome
86908 HHE syndrome 70470 HLP type 5
1164 Hinson-Pepys disease
415 HHH syndrome 2114 Hip dysplasia, Beukes type
523 HLRCC
276280 HHML 2213 HMC syndrome
Hip dysplasia-enchondromata-
3408 178464 HMERF
157215 HHRH ecchondroma syndrome
774 HHT 411593 Hirata disease 20 HMG-CoA lyase deficiency
457 HI 65684 Hirayama disease 35701 HMG-CoA synthase deficiency
ORPHA ORPHA ORPHA
157794 HMPS Homocystinuria due to 231500 HPS with pulmonary fibrosis
64748 HMSN 3 394 cystathionine beta-synthase 231512 HPS without pulmonary fibrosis
773 HMSN 4 deficiency 99880 HPT-JT
64751 HMSN 5 Homocystinuria due to methylene 2323 HRD syndrome
90120 HMSN 6 395 tetrahydrofolate reductase 84085 HS
401964 HMSN2 with giant axons deficiency 36386 HSAN1
64748 HMSN III Homocystinuria without 139564 HSAN1B
622
methylmalonic aciduria
773 HMSN IV 456318 HSAN1E
Homogentisic acid oxidase
64751 HMSN V 56 970 HSAN2
deficiency
90120 HMSN VI 1764 HSAN3
163596 Homozygous alpha0-thalassemia
90119 HMSN with acrodystrophy 642 HSAN4
Homozygous familial
99950 HMSN, Lom type 391665 64752 HSAN5
hypercholesterolemia
99950 HMSN-Lom 314381 HSAN6
Homozygous familial
90117 HMSNP 14 391397 HSAN7
hypobetalipoproteinemia
99953 HMSNR Homozygous hereditary 478664 HSAN8
69084 HNED →288 320385 HSAN due to TECPR2 mutation
elliptocytosis
93111 HNF1B-MODY 98958 Honey-droplet corneal dystrophy HSAN with cough and
139564
HNF1B-related renal cysts and 98960 Honeycomb corneal dystrophy gastroesophageal reflux
93111
diabetes syndrome 78 Hookworm infection HSAN with deafness and global
139573
640 HNPP 307936 HOPP syndrome delay
Hoepffner-Dreyer-Reimers Horizontal gaze palsy with HSAN with hyperhidrosis and
1979 391397
syndrome 2744 gastrointestinal dysfunction
progressive scoliosis
2349 Hoffman syndrome 2182 HSAS
397 Horton disease
391665 HoFH 392 HOS
388 HSCR
414 HOGA 391417 HSD10 deficiency
166412 Hot water reflex epilepsy
454718 Holmes-Adie syndrome 85295 HSD10 deficiency, atypical type
1352 Houlston-Ironton-Temple syndrome
→994 Holmes-Benacerraf syndrome 99907 House allergic alveolitis
391428 HSD10 deficiency, classic type
3328 Holmes-Collins syndrome 391428 HSD10 deficiency, infantile type
2198 Howell-Evans syndrome
93970 Holmes-Gang syndrome 391457 HSD10 deficiency, neonatal type
3322 Hoyeraal-Hreidarsson syndrome
2143 Holmes-Schepens syndrome 391417 HSD10 disease
306669 HP-HA syndrome
Holocarboxylase synthetase 275777 HPAH
85295 HSD10 disease, atypical type
79242
deficiency HPD with marked diurnal
391428 HSD10 disease, classic type
2162 Holoprosencephaly 98808 391428 HSD10 disease, infantile type
fluctuation
280200 Holoprosencephaly, minor form 2162 HPE 391457 HSD10 disease, neonatal type
Holoprosencephaly-caudal 280200 HPE, minor form 1930 HSE
2165
dysgenesis syndrome 280200 HPE-L 30924 HSH
Holoprosencephaly- 46532 HPFH-beta-thalassemia syndrome 456318 HSN1E
2163
craniosynostosis syndrome 1930 HSV encephalitis
251380 HPFH-sickle cell disease syndrome
Holoprosencephaly-ectrodactyly- 1930 HSVE
2117 436 HPP
cleft lip/palate syndrome 285 HT-EDS
293958 HPPD
280200 Holoprosencephaly-like
47044 HPRCC HTLV-1-associated
Holoprosencephaly-postaxial 289326 myelopathy/tropical spastic
2166 79233 HPRT1 partial deficiency
polydactyly syndrome paraparesis
Holoprosencephaly-radial heart
510 HPRT complete deficiency
3186 HTRA1-related autosomal dominant
510 HPRT deficiency grade IV 482077
renal anomalies syndrome cerebral angiopathy
392 Holt-Oram syndrome 79233 HPRT deficiency, grade I
HTRA1-related autosomal dominant
79233 HPRT partial deficiency 482077
2167 Holzgreve syndrome cerebral small vessel disease
Holzgreve-Wagner-Rehder 79233 HPRT-related gout 228116 Hughes-Stovin syndrome
2167 79233 HPRT-related hyperuricemia
syndrome 438279 Human infection by orthopoxvirus
30924 HOMG1 79430 HPS Human T-lymphotropic virus type I-
34528 HOMG2 183678 HPS2 289326 associated myelopathy/tropical
31043 HOMG3 231531 HPS7 spastic paraparesis
→2822 Homocarnosinase deficiency 231537 HPS8
→2822 Homocarnosinosis 280663 HPS9
ORPHA ORPHA ORPHA
Human T-lymphotropic virus type-1- 70587 Hyaline membrane disease Hyper-IgM syndrome due to CD40
101090
289326 associated myelopathy/tropical 530 Hyalinosis cutis et mucosae deficiency
spastic paraparesis 508476 Hyaluronidase 2 deficiency Hyper-IgM syndrome due to CD40
101088
294973 Humeral agenesis/hypoplasia 67041 Hyaluronidase deficiency ligand deficiency
294973 Humeral intercalary meromelia 400 Hydatid disease Hyper-IgM syndrome due to CD40L
101088
3265 Humero-radial fusion 99927 Hydatidiform mole deficiency
3265 Humero-radial synostosis 400 Hydatidosis Hyper-IgM syndrome due to UNG
101092
3266 Humero-radio-ulnar fusion Hyde Forster-McCarthy-Berry deficiency
2898 Hyper-IgM syndrome due to uracil
Humero-radio-ulnar intercalary syndrome 101092
294975 N-glycosylase
transverse meromelia 2177 Hydranencephaly
3266 Humero-radio-ulnar synostosis 101088 Hyper-IgM syndrome type 1
330021 Hydrargyria
→263463 Humero-spinal dysostosis 330061 Hydroa aestivale
101089 Hyper-IgM syndrome type 2
94056 Humero-ulnar fusion 101090 Hyper-IgM syndrome type 3
330058 Hydroa vacciniforme
295215 Humero-ulnar fusion, bilateral 101091 Hyper-IgM syndrome type 4
364039 Hydroa vacciniforme-like lymphoma
295213 Humero-ulnar fusion, unilateral Hydroa-like cutaneous T-cell
101092 Hyper-IgM syndrome type 5
364039 Hyper-IgM syndrome with
94056 Humero-ulnar synostosis lymphoma
295215 Humero-ulnar synostosis, bilateral 183663 susceptibility to opportunistic
Hydrocephalus with stenosis of the
2182 infections
295213 Humero-ulnar synostosis, unilateral aqueduct of Sylvius
→263463 Humerospinal dysostosis Hydrocephalus-agyria-retinal Hyper-IgM syndrome without
899 183666 susceptibility to opportunistic
3383 Humerus trochlea aplasia dysplasia syndrome
infections
580 Hunter syndrome Hydrocephalus-blue sclerae-
2186 309147 Hyperalaninemia
217085 Hunter syndrome type A nephropathy syndrome
Hydrocephalus-cleft palate-joint Hyperammonemia due to N-
217093 Hunter syndrome type B 927
916 acetylglutamate synthase deficiency
Hunter-Carpenter-McDonald contractures syndrome
→35069 Hydrocephalus-costovertebral Hyperammonemic encephalopathy
syndrome 401948 due to carbonic anhydrase VA
2180 dysplasia-Sprengel anomaly
Hunter-Jurenka-Thompson deficiency
2715 syndrome
syndrome Hyperandrogenism due to cortisone
97340 Hunter-McAlpine craniosynostosis Hydrocephalus-endocardial 168588
2119 reductase deficiency
3365 Hunter-Rudd-Hoffmann syndrome fibroelastosis-cataract syndrome
90 Hyperargininemia
1390 Hunter-Thompson-Reed syndrome Hydrocephalus-obesity-
2183 234 Hyperbilirubinemia type 2
hypogonadism syndrome
399 Huntington chorea 3111 Hyperbilirubinemia, Rotor type
Hydrocephaly-cerebellar agenesis
399 Huntington disease 1397 276405 Hyperbiliverdinemia
syndrome
Huntington disease phenocopy due 306661 Hypercalcemic tumoral calcinosis
401901 Hydrocephaly-low insertion
to C9ORF72 expansions 2184
Hypercalciuria-bilateral macular
umbilicus syndrome 2196
157941 Huntington disease-like 1 coloboma syndrome
Hydrocephaly-tall stature-joint
98934 Huntington disease-like 2 2181
laxity syndrome Hypercholesterolemia due to
157946 Huntington disease-like 3 209902 cholesterol 7alpha-hydroxylase
Hydrocephaly/hydranencephaly due
98759 Huntington disease-like 4 221126 deficiency
to cerebral vasculopathy
Huntington disease-like syndrome 2189 Hydrolethalus Hypercoagulability syndrome due to
401901
due to C9ORF72 expansions Hydrometrocolpos-postaxial 83639 glycosylphosphatidylinositol
363694 HUPRA syndrome 2473 deficiency
polydactyly syndrome
384 Huriez syndrome Hydronephrosis-inverted smile 1032 Hyperdibasic aminoaciduria type 1
93473 Hurler disease 2704 470 Hyperdibasic aminoaciduria type 2
syndrome
93473 Hurler syndrome 1041 Hydrops fetalis 3197 Hyperekplexia
93476 Hurler-Scheie syndrome Hydrops-ectopic calcification- 163985 Hyperekplexia-epilepsy syndrome
1426
330061 Hutchinson summer prurigo motheaten syndrome 408 Hyperglycerolemia
Hutchinson-Gilford progeria Hydrops-lactic acidosis-sideroblastic Hypergonadotropic hypogonadism-
740 2410
syndrome 528091 anemia-multisystemic failure cataract syndrome
404448 HVDAS syndrome Hypergonadotropic ovarian
243
93160 HVDRR 79155 Hydroxykynureninuria dysgenesis
364039 HVLL 20 Hydroxymethylglutaric aciduria 2157 Hyperhistidinemia
→247691 HVR 401 Hymenolepiasis 742 Hyperimidodipeptiduria
53698 Hyaline body myopathy 309147 Hyper-beta-alaninemia Hyperimmunoglobinemia D with
343
498474 Hyaline fibromatosis syndrome 343 Hyper-IgD syndrome recurrent fever
ORPHA ORPHA ORPHA
Hyperimmunoglobulin E syndrome 682 Hyperkalemic PP 295140 Hyperphalangy, unilateral
2314
type 1 409 Hyperkeratosis lenticularis perstans Hyperphalangy-clinodactyly of index
1388
Hyperimmunoglobulin E-recurrent Hyperkeratosis-contracture finger with Pierre Robin syndrome
2314 1662
infection syndrome syndrome Hyperphenylalaninemia due to 6-
Hyperimmunoglobulinemia D Hyperkeratosis-hyperpigmentation 13 pyruvoyltetrahydropterin synthase
343 1336
syndrome syndrome deficiency
Hyperimmunoglobulinemia D with 682 HyperKPP Hyperphenylalaninemia due to BH4
343 238583
periodic fever Hyperlipidemia due to hepatic deficiency
140905
Hyperinsulinemic hypoglycemia due lipase deficiency Hyperphenylalaninemia due to
79299 1578
to glucokinase deficiency Hyperlipidemia due to hepatic dehydratase deficiency
140905
Hyperinsulinemic hypoglycemia due triacylglycerol lipase deficiency Hyperphenylalaninemia due to
324575
to HNF1A deficiency Hyperlipidemia due to hepatic 226 dihydropteridine reductase
140905 deficiency
Hyperinsulinemic hypoglycemia due triglyceride lipase deficiency
263455
to HNF4A deficiency 140905 Hyperlipidemia due to HL deficiency Hyperphenylalaninemia due to
508523
Hyperinsulinemic hypoglycemia due Hyperlipidemia due to HTGL DNAJC12 deficiency
263458 140905
to INSR deficiency deficiency Hyperphenylalaninemia due to GTP
2102
Hyperinsulinemic hypoglycemia due 412 Hyperlipidemia type 3 cyclohydrolase deficiency
263458
to insulin receptor deficiency →444490 Hyperlipoproteinemia type 1 Hyperphenylalaninemia due to
Hyperinsulinemic hypoglycemia due 412 Hyperlipoproteinemia type 3
1578 pterin-4-alpha-carbinolamine
276603 to Kir6.2 deficiency, diazoxide- dehydratase deficiency
70470 Hyperlipoproteinemia type 5
resistant focal form Hyperphenylalaninemia due to
2203 Hyperlysinemia 238583
Hyperinsulinemic hypoglycemia due tetrahydrobiopterin deficiency
2203 Hyperlysinemia type I
71212 to short chain 3-hydroxylacyl-CoA Hyperphenylalaninemia with
3124 Hyperlysinemia type II 1578
dehydrogenase deficiency primapterinuria
Hyperinsulinemic hypoglycemia due 289891 Hypermethioninemia due to glycine Hyperphenylalaninemic
N-methyltransferase deficiency 2209
276598 to SUR1 deficiency, diazoxide- embryopathy
resistant focal form Hypermethioninemia due to GNMT 3416 Hyperphosphatasemia tarda
289891
Hyperinsulinemic hypoglycemia due deficiency
276556 Hyperphosphatasia-intellectual
Hypermethioninemia due to S- 247262
to UCP2 deficiency disability syndrome
88618 adenosylhomocysteine hydrolase
Hyperinsulinism due to glucokinase →79189 Hyperpipecolatemia
79299 deficiency
deficiency 157798 Hyperplastic polyposis syndrome
Hyperinsulinism due to Hypermethioninemia
71212 682 HyperPP
289290 encephalopathy due to adenosine
glutamodehydrogenase deficiency 419 Hyperprolinemia type 1
kinase deficiency
Hyperinsulinism due to HNF1A 79101 Hyperprolinemia type 2
324575 Hypermethioninemia
deficiency 93604 Hyperprostaglandin E syndrome
289290 encephalopathy due to ADK
Hyperinsulinism due to HNF4A 1519 Hypertelorism, Teebi type
263455 deficiency
deficiency
73267 Hypernychthemeral syndrome Hypertelorism-hypospadias-
Hyperinsulinism due to INSR 2211
263458 414 Hyperornithinemia polysyndactyly syndrome
deficiency
Hyperornithinemia-gyrate atrophy Hypertelorism-microtia-facial
Hyperinsulinism due to 414 2213
of choroid and retina syndrome clefting syndrome
165991 monocarboxylate transporter 1
Hyperornithinemia- Hypertelorism-oesophageal
deficiency 2745
415 hyperammonemia-homocitrullinuria abnormality-hypospadias syndrome
Hyperinsulinism due to SCHAD
71212 syndrome Hypertelorism-preauricular sinus-
deficiency 293958
Hyperostosis corticalis deformans punctual pits-deafness syndrome
Hyperinsulinism due to short chain 2801
juvenilis Hypertelorism-preauricular sinus-
71212 3-hydroxylacyl-CoA dehydrogenase 293958
3416 Hyperostosis corticalis generalisata punctual pits-hearing loss syndrome
deficiency
443098 Hyperostosis cranialis interna Hypertension due to gain-of-
Hyperinsulinism due to SLC16A1
165991 77296 Hyperostosis frontalis interna 88660 function mutations in the
deficiency
Hyperostosis generalisata with mineralocorticoid receptor
Hyperinsulinism due to UCP2 2780
276556 striations 757 Hypertensive hyperkalemia
deficiency
Hyperparathyroidism-jaw tumor 423 Hyperthermia of anesthesia
Hyperinsulinism-hyperammonemia 99880
35878 2220 Hypertrichosis cubiti
syndrome syndrome
295002 Hyperphalangy 2222 Hypertrichosis lanuginosa congenita
Hyperkalemia-hypertension
757 2222 Hypertrichosis universalis
syndrome, Gordon type 295140 Hyperphalangy in digits 2-5
682 Hyperkalemic periodic paralysis 295142 Hyperphalangy, bilateral Hypertrichosis with or without
2026
gingival hyperplasia
ORPHA ORPHA ORPHA
Hypertrichosis-acromegaloid facial Hypogonadism-mitral valve Hypomyelination-cerebellar
966
appearance syndrome 2233 prolapse-intellectual disability 447893 atrophy-hypoplasia of the corpus
Hypertrichosis-acromegaloid facial syndrome callosum syndrome
966
features syndrome Hypogonadism-short stature- Hypomyelination-congenital
85163
Hypertrichosis-atrophic skin- 141333 coloboma-preaxial polydactyly cataract syndrome
1231
ectropion-macrostomia syndrome syndrome Hypomyelination-hypogonadotropic
Hypertrichosis-coarse face Hypogonadotropic hypogonadism- 88637 hypogonadism-hypodontia
966 2230
syndrome frontoparietal alopecia syndrome syndrome
Hypertrichosis-short stature-facial Hypogonadotropic hypogonadism- Hypoparathyroidism-Addison
2235
319182 dysmorphism-developmental delay retinitis pigmentosa syndrome 3453 disease-mucocutaneous candidiasis
syndrome Hypogonadotropic hypogonadism- syndrome
Hypertrichotic 293967 severe microcephaly-sensorineural Hypoparathyroidism-intellectual
1517 2323
osteochondrodysplasia, Cantu type deafness-dysmorphism syndrome disability-dysmorphism syndrome
Hypertrophic cardiomyopathy and Hypogonadotropic hypogonadism- Hypoparathyroidism-sensorineural
2237
324525 renal tubular disease due to 293967 severe microcephaly-sensorineural deafness-renal disease syndrome
mitochondrial DNA mutation hearing loss-dysmorphism syndrome Hypoparathyroidism-short stature-
Hypertrophic cardiomyopathy and Hypohidrosis-electrolyte imbalance- 2323 intellectual disability-seizures
324525 renal tubular disease due to mtDNA 528105 lacrimal gland dysfunction- syndrome
mutation ichthyosis-xerostomia syndrome 436 Hypophosphatasia
Hypertrophic cardiomyopathy due Hypohidrosis-enamel hypoplasia- 314621 Hypophyseal duplication
217601
to intensive athletic training 363523 palmoplantar keratoderma- 99725 Hypophyseal gigantism
Hypertrophic gastropathy without intellectual disability syndrome Hypopigmentation and punctate
329883 324561
hypoproteinemia 238468 Hypohidrotic ectodermal dysplasia keratosis of the palms and soles
Hypertrophic or verrucous lupus Hypohidrotic ectodermal dysplasia Hypopigmentation-deafness
90282 98813 42665
erythematosus with immunodeficiency syndrome
2224 Hypertryptophanemia Hypohidrotic ectodermal dysplasia- Hypopigmentation-
Hyperuricemia-pulmonary 1882 hypothyroidism-ciliary dyskinesia 79477 immunodeficiency with or without
363694 hypertension-renal failure-alkalosis syndrome neurologic impairment syndrome
syndrome Hypoinsulinemic hypoglycemia and Hypopigmentation-neurologic
293964 79476
Hyperzincemia and body hemihypertrophy impairment syndrome
251523
hypercalprotectinemia 681 Hypokalemic periodic paralysis Hypopigmentation-punctate
276429 Hypnic headache Hypomagnesemia caused by 324561 palmoplantar keratoderma
30924
Hypo- and hypermelanotic selective magnesium malabsorption syndrome
2435 cutaneous macules-retarded growth- 30924 Hypomagnesemia intestinal type 1 Hypopituitarism due to empty sella
91354
intellectual disability syndrome Hypomandibular faciocranial turcica syndrome
1790
Hypocalcemic vitamin D-dependent dysostosis Hypopituitarism-micropenis-cleft
289157 →3157
rickets Hypomaturation amelogenesis lip/palate syndrome
100033
Hypocalcemic vitamin D-resistant imperfecta Hypopituitarism-microphthalmia
93160 →3157
rickets Hypomaturation-hypoplastic syndrome
Hypocalcified amelogenesis 100034 amelogenesis imperfecta with Hypoplasia of the mitral valve
100032 99058
imperfecta taurodontism annulus
93297 Hypochondrogenesis 435 Hypomelanosis of Ito 722 Hypoplasminogenemia
429 Hypochondroplasia Hypomyelinating leukodystrophy Hypoplastic amelogenesis
495844 100031
Hypocomplementemic urticarial due to hikeshi deficiency imperfecta
36412
vasculitis Hypomyelinating leukodystrophy- 2248 Hypoplastic left heart syndrome
Hypodontia-dysplasia of nails 137639 ataxia-hypodontia-hypomyelination Hypoplastic pancreas-intestinal
2228 syndrome
syndrome 293864 atresia-hypoplastic gallbladder
Hypodontia-nail dysgenesis Hypomyelination neuropathy- syndrome
2228 2680
syndrome arthrogryposis syndrome Hypoplastic tibiae-postaxial
3332
185 Hypogenetic lung syndrome Hypomyelination with atrophy of polydactyly syndrome
139441
989 Hypoglossia-hypodactyly syndrome basal ganglia and cerebellum Hypoprebetalipoproteinemia-
Hypogonadism-gynecomastia-X- Hypomyelination with brain stem →216866 acanthocytosis-retinitis pigmentosa-
→261483 linked intellectual disability 363412 and spinal cord involvement and leg pallidal degeneration syndrome
syndrome spasticity 327 Hypoproconvertinemia
Hypoproteinemic hypertrophic
2494
gastropathy
ORPHA ORPHA ORPHA
325 Hypoprothrombinemia Hypotrichosis-lymphedema- 31709 ICCA syndrome
Hyposmia-nasal and ocular telangiectasia- 64734 ICE syndrome
69735
2250 hypoplasia-hypogonadotropic membranoproliferative 2268 ICF syndrome
hypogonadism syndrome glomerulonephritis syndrome 455 Ichthyosis bullosa of Siemens
2745 Hypospadias-dysphagia syndrome Hypotrichosis-lymphedema- 457 Ichthyosis congenita, Harlequin type
Hypospadias-hypertelorism 69735 telangiectasia-renal defect
2745 289586 Ichthyosis exfoliativa
syndrome syndrome
457 Ichthyosis fetalis, Harlequin type
Hypospadias-hypertelorism- Hypotrichosis-osteolysis-
→1299 Ichthyosis follicularis-alopecia-
coloboma and deafness syndrome 307936 periodontitis-palmoplantar 2273
photophobia syndrome
Hypospadias-intellectual disability, hyperkeratosis syndrome
2261 Ichthyosis follicularis-atrichia-
Goldblatt type syndrome Hypotrichosis-osteolysis- 2273
photophobia syndrome
Hypotelorism-cleft palate- 307936 periodontitis-palmoplantar
2353 312 Ichthyosis hystrix Brocq type
hypospadias syndrome keratoderma syndrome
→79503 Ichthyosis hystrix gravior
Hypothalamic adipsic Hypotrichosis-striate palmoplantar
443101 307936 hyperkeratosis-acroosteolysis- 79503 Ichthyosis hystrix of Curth-Macklin
hypernatraemia syndrome
periodontitis syndrome 477 Ichthyosis hystrix Rheydt type
Hypothalamic hamartoblastoma
672 Hypotrichosis-striate palmoplantar Ichthyosis hystrix, Curth-Macklin
syndrome 79503
307936 keratoderma-acroosteolysis- type
Hypothalamic hamartomas with
86906 periodontitis syndrome 281190 Ichthyosis variegata
gelastic seizures
Hypoxanthine guanine 281190 Ichthyosis with confetti
Hypothalamic insufficiency-
secondary microcephaly-visual
79233 phosphoribosyltransferase 1 partial →79503 Ichthyosis, Lambert type
→3157 deficiency Ichthyosis-alopecia-eclabion-
impairment-urinary anomalies
syndrome Hypoxanthine guanine 2269 ectropion-intellectual disability
510 phosphoribosyltransferase complete syndrome
Hypothyroidism due to deficient
226307 transcription factors involved in deficiency Ichthyosis-follicular atrophoderma-
91132
pituitary development or function Hypoxanthine guanine hypotrichosis syndrome
79233 phosphoribosyltransferase Ichthyosis-follicular atrophoderma-
Hypothyroidism due to TSH
90673 deficiency, grade I 91132 hypotrichosis-hypohidrosis
receptor mutations
Hypothyroidism-cleft palate Hypoxanthine guanine syndrome
1226 510 phosphoribosyltransferase Ichthyosis-hepatosplenomegaly-
syndrome 2274
deficiency, grade IV cerebellar degeneration syndrome
Hypothyroidism-dysmorphism-
3047 postaxial polydactyly-intellectual Hypoxanthine guanine 91132 Ichthyosis-hypotrichosis syndrome
79233 phosphoribosyltransferase partial Ichthyosis-hypotrichosis-sclerosing
disability syndrome 59303
deficiency cholangitis syndrome
Hypotonia and ichthyosis due to
91131 Hypoxic and ischemic brain injury in Ichthyosis-intellectual disability-
dolichol phosphate deficiency 137577
the newborn 2278 dwarfism-renal impairment
Hypotonia with lactic acidemia and
137908 137577 Hypoxic-ischemic encephalopathy syndrome
hyperammonemia
682 HYPP Ichthyosis-male hypogonadism
163690 Hypotonia-cystinuria syndrome →1643
63440 Hypsicephaly syndrome
Hypotonia-failure to thrive-
79507 63440 Hypsocephaly Ichthyosis-oral and digital
microcephaly syndrome 2272
Hypotonia-speech impairment- 576 I-cell disease anomalies syndrome
371364 480512 IAD 88621 Ichthyosis-prematurity syndrome
severe cognitive delay syndrome
55654 Hypotrichosis simplex 724 IAEP Ichthyosis-short stature-
158048 IAHS 363992 brachydactyly-microspherophakia
90368 Hypotrichosis simplex of the scalp
293168 IAHSP syndrome
Hypotrichosis with juvenile macular
1573 289347 IDH
degeneration 254509 Iatrogenic botulism
Iatrogenic or traumatic pituitary 3306 idic(15)
Hypotrichosis with juvenile macular 95619
1573 930 Idiopathic achalasia
dystrophy deficiency
444 Hypotrichosis, Marie Unna type 363424 IBA57 deficiency 930 Idiopathic achalasia of esophagus
Hypotrichosis-congenital ichthyosis →33364 IBIDS syndrome Idiopathic acute eosinophilic
91132 724
syndrome 611 IBM pneumonia
330029 Hypotrichosis-deafness syndrome 602 IBM2 139423 Idiopathic acute transverse myelitis
Hypotrichosis-intellectual disability, 79091 IBM3 480512 Idiopathic adult ductopenia
2266 Idiopathic and/or familial
Lopes type 52430 IBMPFD 422
37202 IC/BPS pulmonary arterial hypertension
280914 Idiopathic anterior uveitis
37202 IC/PBS
ORPHA ORPHA ORPHA
88 Idiopathic aplastic anemia 90158 Idiopathic localized lipodystrophy Idiopathic spontaneous coronary
458718
Idiopathic asymptomatic Idiopathic macular telangiectasia artery dissection
206599 353344
hyperCKemia type 1 Idiopathic steroid-sensitive
69061
399307 Idiopathic avascular necrosis Idiopathic macular telangiectasia nephrotic syndrome
353351
399307 Idiopathic AVN type 3 Idiopathic steroid-sensitive
1980 Idiopathic basal ganglia calcification Idiopathic malabsorption due to bile 93209 nephrotic syndrome with diffuse
84065
171684 Idiopathic bilateral vestibulopathy acid synthesis defects mesangial proliferation
84065 Idiopathic bile acid malabsorption 73 Idiopathic massive osteolysis Idiopathic steroid-sensitive
Idiopathic membranous 93206 nephrotic syndrome with focal
88 Idiopathic bone marrow failure 97560
glomerulonephritis segmental glomerulosclerosis
60033 Idiopathic bronchiectasis
2573 Idiopathic Moyamoya disease Idiopathic steroid-sensitive
1320 Idiopathic camptocormia
Idiopathic multicentric osteolysis 93206 nephrotic syndrome with focal
1320 Idiopathic camptocormism 2774
with or without nephropathy segmental hyalinosis
188 Idiopathic capillary leak syndrome
824 Idiopathic myelofibrosis Idiopathic steroid-sensitive
Idiopathic catastrophic epileptic 93207 nephrotic syndrome with minimal
163703 45452 Idiopathic neonatal atrial flutter
encephalopathy change
228000 33577 Idiopathic nodular panniculitis
Idiopathic CD4 lymphocytopenia 99858 Idiopathic syringomyelia
Idiopathic central precocious 51608 Idiopathic obliterative arteriopathy
169615 256 Idiopathic torsion dystonia
puberty 499107 Idiopathic OPN
Idiopathic torsion dystonia of mixed
Idiopathic chronic eosinophilic 499107 Idiopathic optic perineuritis 98806
2902 type
pneumonia 441 Idiopathic orthostatic hypotension
3347 Idiopathic tracheobronchomegaly
Idiopathic congenital 280921 Idiopathic panuveitis
95717 79153 Idiopathic trachyonychia
hypothyroidism 747 Idiopathic PAP
209956 Idiopathic uveal effusion syndrome
Idiopathic copper-associated 480524 Idiopathic peliosis hepatis
209919 Idiopathic ventricular fibrillation,
cirrhosis 480524 Idiopathic peliosis hepatitis 130
Brugada type
Idiopathic disseminated CMV Idiopathic phalangeal acro-
35062 444316 Idiopathic ventricular fibrillation,
infection osteolysis 228140
non Brugada type
Idiopathic disseminated 444316 Idiopathic phalangeal acroosteolysis
35062 280384 IDMDC
cytomegalovirus infection Idiopathic pleuroparenchymal
494428 580 Iduronate 2-sulfatase deficiency
447881 Idiopathic dropped head syndrome fibroelastosis
Iduronate 2-sulfatase deficiency
480512 Idiopathic ductopenia Idiopathic pleuropulmonary 217085
494428 type A
256 Idiopathic dystonia fibroelastosis
Iduronate 2-sulfatase deficiency
Idiopathic eosinophilia-associated 280917 Idiopathic posterior uveitis 217093
247724 type B
myopathy Idiopathic progressive lumbar
1320 92050 IED
247724 Idiopathic eosinophilic myositis kyphosis
2282 Ieshima-Koeda-Inagaki syndrome
329874 Idiopathic giant cell myocarditis Idiopathic pulmonary alveolar
747 91132 IFAH syndrome
64722 Idiopathic granulomatous mastitis proteinosis
2273 IFAP syndrome
Idiopathic hemiconvulsion- Idiopathic pulmonary arterial
86908 275766 332 IFD
hemiplegia syndrome hypertension
Idiopathic pulmonary artery Ig-mediated membranoproliferative
2197 Idiopathic hypercalciuria 329903
1676 glomerulonephritis
Idiopathic hypereosinophilic dilatation
3260
2032 Idiopathic pulmonary fibrosis
329903 Ig-mediated MPGN
syndrome
761 IgA vasculitis
33208 Idiopathic hypersomnia 99931 Idiopathic pulmonary hemosiderosis
329874 IGCM
Idiopathic hypertrophic Idiopathic recurrent and disabling
449427 35061 79099 IGDA
pachymeningitis cutaneous herpes
Idiopathic immunoglobulin 251307 Idiopathic recurrent pericarditis 73272 IGF-1 deficiency
1572 449400 IgG4-related aortitis
deficiency 276174 Idiopathic recurrent stupor
Idiopathic infantile arterial 251307 Idiopathic relapsing pericarditis IgG4-related dacryoadenitis and
51608 79078
calcification 40923 Idiopathic retinal perivasculitis sialadenitis
238624 Idiopathic intracranial hypertension 40923 Idiopathic retinal vasculitis IgG4-related eosinophilic
449566
95707 Idiopathic isolated micropenis angiocentric fibrosis
Idiopathic retinal vasculitis-
209943 90003 IgG4-related hepatopathy
85193 Idiopathic juvenile osteoporosis aneurysms-neuroretinitis syndrome
449395 IgG4-related kidney disease
Idiopathic late-onset cerebellar 49041 Idiopathic retroperitoneal fibrosis
247234 63999 IgG4-related mediastinitis
ataxia 458718 Idiopathic SCAD
314017 Idiopathic linear interstitial keratitis 35065 Idiopathic severe pneumococcemia
238593 IgG4-related mesenteritis
33577 449563 IgG4-related ophthalmic disease
Idiopathic lobular panniculitis
ORPHA ORPHA ORPHA
449427 IgG4-related pachymeningitis Immune dysregulation- Immunodeficiency-short limb
935
280302 IgG4-related pancreatitis 37042 polyendocrinopathy-enteropathy-X- dwarfism syndrome
449400 IgG4-related periaortitis linked syndrome 761 Immunoglobulin A vasculitis
49041 IgG4-related retroperitoneal fibrosis 364013 Immune fetal edema Immunoglobulin heavy chain
169110
447764 IgG4-related sclerosing cholangitis 364013 Immune fetal hydrops deficiency
449432 IgG4-related sialadenitis 364013 Immune HF Immunoglobulin-mediated
364013 Immune hydrops fetalis 329903 membranoproliferative
IgG4-related submandibular gland
449432 glomerulonephritis
disease Immune myopathy with myocyte
206569
64744 IgG4-related thyroid disease necrosis 329903 Immunoglobulin-mediated MPGN
IgG subclass deficiency with IgA 1959 Immune pancytopenia Immunoproliferative small
183675 100025
subclass deficiency 3002 Immune thrombocytopenia intestinal disease
329235 IGSF1 deficiency syndrome 3002 Immune thrombocytopenic purpura 97567 Immunotactoid glomerulonephritis
364013 Immune-mediated necrotizing 97567 Immunotactoid glomerulopathy
IHF 206569
86908 IHHS myopathy 456312 IMNEPD
371364 IHPRF syndrome Immune-mediated rippling muscle 206569 IMNM
206575
91132 IHS disease Imperforate anus-hand, foot and
857
59303 IHSC 86886 Immunoblastic lymphadenopathy ear anomalies syndrome
238624 IIH Immunodeficiency by defective Imperforate oropharynx-
34592 2759
expression of HLA class 1 costovertebral anomalies syndrome
85193 IJO
Immunodeficiency by defective 71276 Imploding antrum syndrome
238569 IL10-related early-onset IBD 572
expression of HLA class 2 35069 INAD
IL10-related early-onset
238569 Immunodeficiency due to a classical 35069 INAD1
inflammatory bowel disease
169147 component pathway complement 254509 Inadvertent botulism
477661 IL21-related infantile IBD
deficiency Incessant infant ventricular
IL21-related infantile inflammatory 45453
477661 Immunodeficiency due to a late tachycardia
bowel disease
169150 component of complement 79263 INCL
100078 Ileal neuroendocrine neoplasm deficiency 231226 Inclusion body beta-thalassemia
100078 Ileal neuroendocrine tumor Immunodeficiency due to an early
Ileal pouch anal anastomosis related
199267 Inclusion body fibromatosis
238621 169147 component of complement 602 Inclusion body myopathy type 2
faecal incontinence deficiency
1150 Illum syndrome 79091 Inclusion body myopathy type 3
Immunodeficiency due to C1, C4, or
79466 ILVEN Inclusion body myopathy with Paget
169147 C2 component complement
52430 disease of bone and frontotemporal
85173 IMAGe syndrome deficiency
dementia
247718 IMAM Immunodeficiency due to C5 to C9
169150 611 Inclusion body myositis
35858 Imerslund-Gräsbeck syndrome component complement deficiency
254693 Incomplete hydatidiform mole
42062 Iminoglycinuria Immunodeficiency due to CD25
169100 314466 Incomplete Meigs syndrome
Immature interstitial mesenchymal deficiency
284362 254693 Incomplete molar pregnancy
tumor Immunodeficiency due to ficolin3
331190 157769 Incomplete situs inversus
398987 Immature teratoma of ovary deficiency
289465 Immigration delay disease Immunodeficiency due to Incomplete unilateral aplasia of the
180079
70592 interleukin-1 receptor-associated Müllerian ducts
Immotile cilia syndrome, Kartagener
→244 kinase-4 deficiency Incomplete unilateral Müllerian
type 180079
Immunodeficiency due to MASP-2 aplasia
2901 Immune brachial plexus neuropathy 331187
deficiency 464 Incontinentia pigmenti
Immune dysfunction due to T-cell
Immunodeficiency due to selective 435 Incontinentia pigmenti type 1
169090 inactivation due to calcium entry
defect 70593 anti-polysaccharide antibody 158019 Indeterminate cell histiocytosis
Immune dysregulation- deficiency Indeterminate dendritic cell
158019
inflammatory bowel disease- Immunodeficiency with factor H neoplasm
238569 200421
arthritis-recurrent infections anomaly 158019 Indeterminate dendritic cell tumor
syndrome Immunodeficiency with factor I Index finger anomaly-Pierre Robin
200418 1388
Immune dysregulation- anomaly syndrome
inflammatory bowel disease- Immunodeficiency-centromeric 98848 Indolent systemic mastocytosis
529977
arthritis-recurrent infections- 2268 instability-facial anomalies 1909 Indomethacin embryofetopathy
lymphopenia syndrome syndrome Infant acute respiratory distress
70587
Immunodeficiency-microcephaly- syndrome
647
chromosomal instability syndrome 70587 Infant ARDS
ORPHA ORPHA ORPHA
178478 Infant botulism Infantile hypotonia-psychomotor Infantile-onset autosomal recessive
284332
178478 Infant intestinal botulism 371364 retardation-characteristic facies nonprogressive cerebellar ataxia
178478 Infant intestinal toxemia botulism syndrome Infantile-onset axonal motor and
Infant intestinal toxin-mediated Infantile juvenile polyposis 457205 sensory neuropathy-optic atrophy-
178478 79076
botulism syndrome neurodegenerative syndrome
70587 Infant respiratory distress syndrome 206436 Infantile Krabbe disease Infantile-onset generalized
178487 Infant-like botulism 1928 Infantile lobar hyperinflation 494526 dyskinesia with orofacial
247165 Infantile acrodynia 667 Infantile malignant osteopetrosis involvement
99749 Infantile agranulocytosis 247165 Infantile mercury intoxication Infantile-onset mesial temporal lobe
247165 Infantile mercury poisoning 391316 epilepsy with severe cognitive
Infantile and juvenile forms of
99725
Infantile multisystem neurologic- regression
acromegaly 456312
endocrine-pancreatic disease Infantile-onset multisystem
70590 Infantile apnea 1451
2591 Infantile myofibromatosis inflammatory disease
51608 Infantile arteriosclerosis
79263 Infantile NCL Infantile-onset orofacial-trunk-limbs
2679 Infantile axonal neuropathy 494526
dyskinesia
Infantile Bartter syndrome with 93591 Infantile nephronophthisis
89938 Infantile-onset periodic fever-
sensorineural deafness 35069 Infantile neuroaxonal dystrophy 500062
panniculitis-dermatosis syndrome
178478 Infantile botulism Infantile neuronal ceroid
79263 Infantile-onset spinocerebellar
314911 Infantile Canavan disease lipofuscinosis 352403
ataxia-psychomotor delay syndrome
Infantile cardiomyopathy with 289860 Infantile NKH
137675 Infantile-onset symptomatic
histiocytoid change Infantile non-ketotic 171714 epilepsy syndrome-developmental
289860
Infantile cellular interstitial hyperglycinemia stagnation-blindness syndrome
217557
pneumonitis Infantile onset panniculitis with Infantile-onset X-linked spinal
251304
Infantile cerebellar-retinal uveitis and systemic granulomatosis 1145
313850 muscular atrophy
degeneration Infantile onset spinocerebellar 781 Infection due to Coxiella burnetii
1186
Infantile cerebral and cerebellar ataxia
279922 Infectious anterior uveitis
402364 atrophy with postnatal progressive Infantile optic atrophy with chorea
67047 137593 Infectious epithelial keratitis
microcephaly and spastic paraplegia
279925 Infectious panuveitis
77260 Infantile cerebral Gaucher disease Infantile osteopetrosis with
85179 279919 Infectious posterior uveitis
Infantile choroidocerebral neuroaxonal dysplasia
1313 Infective dermatitis associated with
calcification syndrome 247651 Infantile phosphoethanolaminuria 289347
HTLV-1
Infantile convulsions and 247651 Infantile Rathburn disease
choreoathetosis 772 Infantile Refsum disease 289347
human T-lymphotropic virus type 1
1310 Infantile cortical hyperostosis Infantile reversible cytochrome C
199267 Infantile digital fibromatosis oxidase deficiency myopathy 289347
human T-lymphotropic virus type I
87876 Infantile dysmorphic sialidosis 3451 Infantile spasms
99123 Inferior caval vein interruption
238455 Infantile dystonia-parkinsonism Infantile spasms-broad thumbs
3173 155889 Inferior palpebral coloboma
Infantile epileptic-dyskinetic syndrome
364063 99123 Inferior vena cava interruption
encephalopathy Infantile spasms-psychomotor
280794 Infiltrative small vesicular DCM
Infantile gigantism due to pituitary retardation-progressive brain
300373 263410 Infiltrative small vesicular diffuse
hyperplasia atrophy-basal ganglia disease 280794
syndrome cutaneous mastocytosis
289860 Infantile glycine encephalopathy
83330 Infantile spinal muscular atrophy 85445 Inflammatory amyloidosis
79255 Infantile GM1 gangliosidosis
Infantile subacute necrotizing inflammatory bowel disease
Infantile GM2 gangliosidosis 0 529980 recurrent-sinopulmonary infections
309155 255241 encephalopathy with
variant syndrome
Infantile hereditary endothelial leukodystrophy
293603 Infantile subacute necrotizing Inflammatory linear verrucous
dystrophy 79466
255249 encephalopathy with nephrotic epidermal nevus
Infantile hypertrophic Inflammatory myofibroblastic
352563 cardiomyopathy due to MRPL44 syndrome 178342
2176 Infantile systemic hyalinosis tumor
deficiency
2768 Infantile tibia vara 160148 Inflammatory myoglandular polyps
247651 Infantile hypophosphatasia
Infantile xanthomatous Inflammatory myopathy with
Infantile hypotonia-oculomotor 137675 247718
cardiomyopathy abundant macrophages
522077 anomalies-hyperkinetic movements-
Infantile-onset ascending hereditary Inflammatory peeling skin
developmental delay syndrome 293168 263553
spastic paralysis syndrome
Inflammatory pseudotumor of
48918
skeletal muscle
ORPHA ORPHA ORPHA
Inflammatory pseudotumor of the 3080 Intellectual disability, Wolff type Intellectual disability-facial
90003
liver Intellectual disability-alacrima- 404440 dysmorphism syndrome due to
289483
238305 Infundibulo-neurohypophysitis achalasia syndrome SETD5 haploinsufficiency
95513 Infundibulo-panhypophysitis Intellectual disability-aphasia- Intellectual disability-facial
Infundibulopelvic stenosis- 2466 shuffling gait-adducted thumbs 370010 dysmorphism-hand anomalies
1849 syndrome
multicystic kidney syndrome syndrome
247257 Inhalation anthrax disease Intellectual disability-autism-speech Intellectual disability-feeding
254504 Inhalation botulism 529965 apraxia-craniofacial dysmorphism 363611 difficulties-developmental delay-
247257 Inhalational anthrax syndrome microcephaly syndrome
254504 Inhalational botulism Intellectual disability-balding- Intellectual disability-hyperkinetic
369847
3041 patella luxation-acromicria movement-truncal ataxia syndrome
319465 Inherited acute myeloid leukemia
syndrome Intellectual disability-hypoplastic
319465 Inherited AML
Intellectual disability-brachydactyly- 1495 corpus callosum-preauricular tag
Inherited cancer-predisposing 364577
syndrome
Pierre Robin syndrome
319462 syndrome due to biallelic BRCA2
Intellectual disability-cardiac Intellectual disability-hypotonia-
mutations
508498 anomalies-short stature-joint laxity 314575 brachycephaly-pyloric stenosis-
282166 Inherited CJD
syndrome cryptorchidism syndrome
Inherited congenital spastic Intellectual disability-hypotonia-
210141 Intellectual disability-cataract-
quadriplegia →324737 166108
coloboma-kyphosis syndrome facial dysmorphism syndrome
Inherited congenital spastic Intellectual disability-
210141 Intellectual disability-cataracts-
tetraplegia 3042 3451
calcified pinnae-myopathy syndrome hypsarrhythmia syndrome
282166 Inherited Creutzfeldt-Jakob disease
Intellectual disability-cataracts- Intellectual disability-loss of
Inherited deficiency of 171860
859 kyphosis syndrome 436151 expressive language-facial
transcobalamin dysmorphism syndrome
Intellectual disability-coarse face-
Inherited estrogen-associated 397709 macrocephaly-cerebellar hypoplasia Intellectual disability-macrocephaly-
100054
angioedema syndrome 457279 hypotonia-behavioral abnormalities
Inherited estrogen-associated Intellectual disability-coarse face- syndrome
100054
angioneurotic edema 397709 macrocephaly-cerebellar hypotrophy Intellectual disability-microcephaly-
Inherited estrogen-dependent syndrome 468678 strabismus-behavioral abnormalities
100054
angioedema Intellectual disability-craniofacial syndrome
Inherited estrogen-dependent 329224 dysmorphism-cryptorchidism Intellectual disability-muscle
100054
angioneurotic edema syndrome 457365 weakness-short stature-facial
Inherited glutamine synthetase Intellectual disability- dysmorphism syndrome
71278
deficiency 3454 developmental delay-contractures Intellectual disability-myopathy-
71278 Inherited GS deficiency syndrome 3068 short stature-endocrine defect
Inherited isolated adrenal Intellectual disability-dysmorphism- syndrome
289548 insufficiency due to partial CYP11A1 3044 hypogonadism-diabetes mellitus Intellectual disability-obesity-brain
deficiency syndrome 352530 malformations-facial dysmorphism
37 Inherited zinc deficiency Intellectual disability-dysmorphism- syndrome
63259 Iniencephaly →280 intrauterine growth retardation Intellectual disability-obesity-
178475 Inoculation botulism syndrome 397973 prognathism-eye and skin anomalies
411593 Insulin autoimmune syndrome Intellectual disability-enteropathy- syndrome
2297 Insulin-resistance syndrome type A 171851 deafness-peripheral neuropathy- Intellectual disability-polydactyly-
3082
2298 Insulin-resistance syndrome type B ichthyosis-keratodermia syndrome uncombable hair syndrome
97279 Insulinoma Intellectual disability-epilepsy- Intellectual disability-seizures-
2139
bulbous nose syndrome 513456 abnormal gait-facial dysmorphism
Intellectual disability associated
100973 Intellectual disability-epilepsy- syndrome
with fragile site FRAXE 127
Intellectual disability syndrome due endocrine disorders syndrome Intellectual disability-seizures-
464311 Intellectual disability-epilepsy- 369837 hypophosphatasia-ophthalmic-
to a DYRK1A point mutation 468620
extrapyramidal syndrome skeletal anomalies syndrome
Intellectual disability, Birk-Barel
166108 Intellectual disability-epilepsy- Intellectual disability-seizures-
type 369950
435638 stereotypic hand movement macrocephaly-obesity syndrome
Intellectual disability, Buenos-Aires
3079 syndrome Intellectual disability-severe speech
type 391372
Intellectual disability-expressive delay-mild dysmorphism syndrome
→324737 Intellectual disability, Kahrizi type
436151 aphasia-facial dysmorphism Intellectual disability-short stature-
Intellectual disability, Mietens-
2557 syndrome 3409 hand contractures-genital anomalies
Weber type
syndrome
ORPHA ORPHA ORPHA
Intellectual disability-short stature- Interstitial cystitis/bladder pain Intrauterine growth restriction-
3074 37202
hypertelorism syndrome syndrome 436144 short stature-early adult-onset
Intellectual disability-short stature- Interstitial cystitis/painful bladder diabetes syndrome
37202
1240 wedge-shaped epiphyses of knees syndrome Intrauterine growth retardation-
syndrome Interstitial granulomatous metaphyseal dysplasia-adrenal
79099 85173
Intellectual disability-sparse hair- dermatitis with arthritis hypoplasia congenita-genital
3051
brachydactyly syndrome 440427 Interstitial lung and liver disease anomalies syndrome
Intellectual disability-spasticity- Interstitial lung disease due to 137686 Intrauterine synechiae
1891 440402
ectrodactyly syndrome ABCA3 deficiency 98839 Intravascular large B-cell lymphoma
Intellectual disability-strabismus Interstitial lung disease due to ATP- 98839 Intravascular lymphomatosis
363528
syndrome 440402 binding cassette subfamily A 332 Intrinsic factor deficiency
Intellectual disability-truncal member 3 deficiency 324648 iNTS disease
397941
obesity syndrome Interstitial lung disease due to SP-C Invasive candidiasis-deep
440392 457088
Intellectual disability-truncal deficiency dermatophytosis syndrome
75858 obesity-retinal dystrophy-micropenis Interstitial lung disease due to Invasive infections due to
440392 90078
syndrome surfactant protein C deficiency vancomycin-resistant enterococci
1478 Interatrial communication 99092 Interventricular septum aneurysm 90078 Invasive infections due to VRE
1478 Interauricular communication 1201 Intestinal atresia type IIIb 99925 Invasive mole
51890 Intercostal nerve syndrome 178481 Intestinal botulism Invasive non-typhoidal salmonella
324648
86900 Interdigitating cell sarcoma 178481 Intestinal colonization botulism disease
Interdigitating dendritic cell 92050 Intestinal epithelial dysplasia Invasive non-typhoidal
86900 324648
sarcoma Intestinal hypomagnesemia with salmonellosis
30924
Interleukin-1 receptor antagonist secondary hypocalcemia 3306 Invdup(15)
210115
deficiency 3452 Intestinal lipodystrophy 96092 Invdupdel(8p)
Interleukin-2 receptor alpha chain 3452 Intestinal lipophagic granulomatosis 79405 Inverse JEB
169100
deficiency Intestinal obstruction in the Inverse Klippel-Trénaunay
Intermediate anorectal 329324
171208 314376 newborn due to guanylate cyclase syndrome
malformation 2C deficiency 98951 Inverse Marcus-Gunn phenomenon
268162 Intermediate BCKD deficiency 86880 Intestinal T-cell lymphoma 79409 Inverse RDEB
Intermediate branched-chain alpha- 178481 Intestinal toxemia botulism Inverse recessive dystrophic
268162 79409
ketoacid dehydrogenase deficiency 178481 Intestinal toxin-mediated botulism epidermolysis bullosa
411634 Intermediate cystinosis 228371 Intoxication botulism Inverted 8p duplication/deletion
99989 Intermediate DEND syndrome 96092
Intracranial arteriovenous syndrome
46724
Intermediate lichen malformation Inverted smile-neurogenic bladder
86797 2704
myxedematosus Intracranial endodermal sinus syndrome
Intermediate maple syrup urine 252006
268162 tumor 1451 IOMID syndrome
disease 252006 Intracranial yolk sac tumor 499096 ION
268162 Intermediate MSUD Intractable diarrhea-choanal 1186 IOSCA
171433 Intermediate nemaline myopathy 137622
atresia-eye anomalies syndrome 275766 IPAH
210110 Intermediate osteopetrosis Intraductal papillary mucinous 747 iPAP
424058
309331 Intermediate severe Salla disease carcinoma of pancreas 238455 IPD
Intermediate spinal muscular Intrahepatic bile duct 37042 IPEX
83418 424982
atrophy cystadenocarcinoma 1006 Ipp-Gelfand syndrome
279914 Intermediate uveitis Intrahepatic cholestasis of 494428 IPPFE
69665
268173 Intermittent BCKD deficiency pregnancy 88621 IPS
Intermittent branched-chain alpha- Intralobar congenital 100025 IPSID
268173 280802
ketoacid dehydrogenase deficiency bronchopulmonary sequestration
IQSEC2-related syndromic
90283 Intermittent cutaneous lupus Intralobar congenital pulmonary 397933
280802 intellectual disability
329967 Intermittent hydrarthrosis sequestration
70592 IRAK4 deficiency
Intermittent maple syrup urine 99088 Intramural coronary arterial course
268173 772 IRD
disease 100003 Intraneural perineurioma
209981 IRIDA syndrome
268173 Intermittent MSUD 268139 Intraocular medulloepithelioma
64734 Iridocorneal endothelial syndrome
→2686 Intermittent neutropenia 140436 Intraosseous hemangioma
Iris dysplasia-hypertelorism-
981 Internal carotid agenesis 137686 Intrauterine adhesions →782
deafness syndrome
37202 Interstitial cystitis 39044 Iris melanoma
ORPHA ORPHA ORPHA
Iron-refractory iron deficiency 30391 Isolated atresia of bile ducts Isolated congenital nasal pyriform
209981 162516
anemia Isolated autosomal dominant aperture stenosis
34528
Iron-sulfur cluster deficiency hypomagnesemia 79144 Isolated congenital onychodysplasia
43115
myopathy Isolated autosomal dominant Isolated congenital radial head
199326 295032
86915 Irons-Bhan syndrome hypomagnesemia, Glaudemans type dislocation
86915 Irons-Bianchi syndrome Isolated bilateral hemispheric 91490 Isolated congenital sclerocornea
269221
209943 IRVAN syndrome cerebellar hypoplasia 141214 Isolated congenital syngnathia
84142 Isaac syndrome 30391 Isolated biliary atresia Isolated congenitally uncorrected
216718
84142 Isaac-Mertens syndrome 519390 Isolated blepharochalasis transposition of the great arteries
1509 Ischiopatellar dysplasia 158778 Isolated bone marrow mastocytosis Isolated congenitally uncorrected
216718
85200 Ischiospinal dysostosis 35099 Isolated brachycephaly transposition of the great vessels
85200 Ischiovertebral dysplasia 1398 Isolated cerebellar agenesis Isolated CoQ-cytochrome C
1460
85200 Ischiovertebral syndrome 269203 Isolated cerebellar vermis agenesis reductase deficiency
43115 ISCU myopathy Isolated cerebellar vermis 254905 Isolated COX deficiency
199630
79144 Iso-Kikuchi syndrome hypoplasia 91396 Isolated cryptophthalmia
79159 Isobutyric aciduria 485426 Isolated CHF Isolated cytochrome C oxidase
254905
Isobutyryl-CoA dehydrogenase 199302 Isolated cleft lip deficiency
79159 Isolated Dandy-Walker
deficiency 141242 Isolated cleft of the ala nasi 217
3309 Isochromosome 5p 2343 Isolated cloverleaf skull syndrome malformation
3310 Isochromosome 9p Isolated coenzyme Q-cytochrome C Isolated Dandy-Walker
1460 269212
reductase deficiency malformation with hydrocephalus
884 Isochromosome 12p mosaicism
141242 Isolated coloboma of the nose Isolated Dandy-Walker
884 Isochromosome 12p syndrome
269215 malformation without
3307 Isochromosome 18p 2609 Isolated complex I deficiency
hydrocephalus
96055 Isochromosome 21 1460 Isolated complex III deficiency
248340 Isolated delta-SPD
98797 Isochromosomy Yp 217059 Isolated congenital acropachy
248340 Isolated delta-storage pool disease
98798 Isochromosomy Yq Isolated congenital
289465 248340 Isolated dense-SPD
99731 ISOD adermatoglyphia
248340 Isolated dense-storage pool disease
3306 Isodicentric 15 chromosome 91416 Isolated congenital alacrima
99177 Isolated distichiasis
Isolated acute necrotizing 180188 Isolated congenital amastia
263524 79143 Isolated congenital anonychia
35093 Isolated dolichocephaly
encephalopathy
1885 Isolated ectopia lentis
229717 Isolated agammaglobulinemia 88620 Isolated congenital anosmia
199647 Isolated encephalocele
440987 Isolated agenesis of gallbladder Isolated congenital auditory ossicle
162526 93928 Isolated epispadias
268868 Isolated amyelia malformation
Isolated congenital breast 221106 Isolated facial myokymia
263524 Isolated ANE 180188
hypoplasia/aplasia 65683 Isolated focal cortical dysplasia
1048 Isolated anencephaly/exencephaly
Isolated congenital controlateral Isolated focal cortical dysplasia type
Isolated angiitis of the central 238722 268994
140989 synkinesia 2
nervous system
217059 Isolated congenital digital clubbing Isolated focal cortical dysplasia type
250923 Isolated aniridia 268961
99171 Isolated congenital ectropion I
Isolated ankyloblepharon filiforme Isolated focal cortical dysplasia type
91397 Isolated congenital elbow
adnatum 295032 268973
dislocation Ia
79143 Isolated anonychia
519386 Isolated congenital entropion Isolated focal cortical dysplasia type
557 Isolated anorectal malformation 268980
Isolated congenital gonadotropin Ib
Isolated anterior cervical 432 Isolated focal cortical dysplasia type
3387 deficiency 268987
hypertrichosis Ic
485426 Isolated congenital hepatic fibrosis
Isolated apertura pyriformis Isolated focal cortical dysplasia type
162516 Isolated congenital 268994
stenosis 141152 II
268936 Isolated arhinencephaly hypoglossia/aglossia
Isolated congenital Isolated focal cortical dysplasia type
1134 269001
Isolated arrhinia 141214 IIa
maxillomandibular fusion
1166 Isolated asymmetric crying facies Isolated focal cortical dysplasia type
91489 Isolated congenital megalocornea 269008
Isolated asymptomatic elevation of IIb
206599 199642 Isolated congenital microcephaly
creatine phosphokinase Isolated focal non-epidermolytic
Isolated asymptomatic Isolated congenital mirror 448264
206599
238722 palmoplantar keratoderma
hyperCKemia movements
Isolated follicle stimulating
217059 Isolated congenital nail clubbing 52901
254913 Isolated ATP synthase deficiency hormone deficiency
ORPHA ORPHA ORPHA
519398 Isolated foveal hypoplasia Isolated neonatal sclerosing 3366 Isolated trigonocephaly
480556
52901 Isolated FSH deficiency cholangitis 90674 Isolated TSH deficiency
Isolated generalized anhidrosis with 1134 Isolated nose agenesis Isolated TSH-releasing factor
468666 238670
normal sweat glands Isolated optic nerve deficiency
137902
87884 Isolated genetic deafness hypoplasia/aplasia Isolated ubiquinone-cytochrome C
1460
408 Isolated glycerol kinase deficiency 499096 Isolated optic neuritis reductase deficiency
Isolated growth hormone deficiency 166119 Isolated osteopoikilosis Isolated unilateral hemispheric
231662 269218
type IA 63440 Isolated oxycephaly cerebellar hypoplasia
Isolated growth hormone deficiency Isolated partial cerebellar vermis Isolated ventriculoarterial
231671 269209 860
type IB agenesis discordance
Isolated growth hormone deficiency 96269 Isolated partial vaginal agenesis 96 Isolated vitamin E deficiency
231679
type II 718 Isolated Pierre Robin sequence 472 Isosporiasis
Isolated growth hormone deficiency 718 Isolated Pierre Robin syndrome 2305 Isotretinoin embryopathy
231692
type III 35098 Isolated plagiocephaly 2305 Isotretinoin syndrome
2128 Isolated hemihyperplasia 2924 Isolated polycystic liver disease 2306 Isotretinoin-like syndrome
2128 Isolated hemihypertrophy 2456 Isolated polythelia Isovaleric acid CoA dehydrogenase
33
Isolated hereditary congenital facial Isolated postlingual genetic deficiency
306527 216452
paralysis deafness 33 Isovaleric acidemia
229717 Isolated hypogammaglobulinemia 216445 Isolated prelingual genetic deafness 309324 ISSD
183675 Isolated IgG subclass deficiency 238670 Isolated prothyroliberin deficiency →33364 Itin syndrome
519392 Isolated iridoschisis 238670 Isolated protirelin deficiency 439254 ITM2B amyloidosis
2345 Isolated Klippel-Feil syndrome 264691 Isolated pulmonary capillaritis 439254 ITM2B-related amyloidosis
95854 Isolated levocardia 34528 Isolated renal magnesium wasting ITM2B-related cerebral amyloid
439254
Isolated lissencephaly type 1 439 Isolated right ventricular hypoplasia angiopathy
1084
without known genetic defects 35093 Isolated scaphocephaly 435 Ito hypomelanosis
268920 Isolated macrencephaly 178311 3002 ITP
Isolated SCCH
391474 Isolated median cleft face syndrome Isolated sedoheptulokinase 457375 ITPA-related encephalopathy
268920 Isolated megalencephaly 440713
deficiency 279914 IU
519402 Isolated megalopapilla 440713 Isolated SHPK deficiency 99123 IVC interruption
238593 Isolated mesenteric lipodystrophy 457083 Isolated splenogonadal fusion 294415 Ivemark II syndrome
519394 Isolated microphakia Isolated split hand-split foot 97548 Ivemark syndrome
2440
519396 Isolated microspherophakia malformation 2307 IVIC syndrome
Isolated mitochondrial Isolated sternocostoclavicular 281190 IWC
90641 178311
neurosensory deafness hyperostosis 3236 Jackson-Barr syndrome
Isolated mitochondrial respiratory Isolated succinate-coenzyme Q 1540 Jackson-Weiss syndrome
2609 3208
chain complex I deficiency reductase deficiency 2848 Jacobs syndrome
Isolated mitochondrial respiratory Isolated succinate-CoQ reductase 2308 Jacobsen syndrome
3208 3208
chain complex II deficiency deficiency 1941 JAE
Isolated mitochondrial respiratory Isolated succinate-ubiquinone →636 Jaffe-Campanacci syndrome
1460 3208
chain complex III deficiency reductase deficiency 93277 Jaffe-Lichtenstein disease
Isolated mitochondrial respiratory 99731 Isolated sulfite oxidase deficiency
254905 2269 Jagell-Holmgren-Hofer syndrome
chain complex IV deficiency Isolated thyroid-stimulating
90674 1873 Jalili syndrome
Isolated mitochondrial respiratory hormone deficiency
254913 300605 JALS
chain complex V deficiency 238670 Isolated thyroliberin deficiency
73423 Jamaican vomiting sickness
Isolated mitochondrial 90674 Isolated thyrotropin deficiency
90641 73423 Jamaican vomiting syndrome
sensorineural deafness Isolated thyrotropin-releasing factor
Isolated NADH-coenzyme Q 238670 1891 Jancar syndrome
2609 deficiency
reductase deficiency 2590 Jankovic-Rivera syndrome
Isolated thyrotropin-releasing
Isolated NADH-CoQ reductase 238670 168491 Jansky-Bielschowsky disease
2609 hormone deficiency
deficiency 79139 Japanese encephalitis
Isolated total cerebellar vermis
269206 2311 Jarcho-Levin syndrome
Isolated NADH-ubiquinone agenesis
2609
reductase deficiency 454750 Isolated tracheoesophageal fistula 474 JATD
Isolated nasal pyriform aperture 103909 Isolated trehalose intolerance 91412 Jaw-winking syndrome
162516
hypoplasia 238670 Isolated TRF deficiency 313795 Jawad syndrome
447881 Isolated neck extensor myopathy 2315 JBS
238670 Isolated TRH deficiency
ORPHA ORPHA ORPHA
397715 JBTS with JATD Joubert syndrome with hepatic 319223 Junin hemorrhagic fever
1454
139431 Jeavons syndrome defect 989 Jussieu syndrome
JEB with respiratory and renal 397715 Joubert syndrome with JATD 1941 Juvenile absence epilepsy
306504
involvement Joubert syndrome with Jeune 391497 Juvenile acquired myasthenia
397715
79402 JEB, generalized intermediate asphyxiating thoracic dystrophy Juvenile amyotrophic lateral
300605
79404 JEB, generalized severe Joubert syndrome with ocular sclerosis
220493
79404 JEB-H defect 199260 Juvenile aponeurotic fibromatosis
79405 JEB-I Joubert syndrome with oculorenal Juvenile autoimmune myasthenia
2318 391497
79406 JEB-lo defect gravis
79402 JEB-nH gen Joubert syndrome with oral-facial- 314918 Juvenile Canavan disease
2754
251393 JEB-nH loc digital syndrome Juvenile cataract-microcornea-renal
Joubert syndrome with 247794
79403 JEB-PA 2754 glucosuria syndrome
orofaciodigital defect 300605 Juvenile Charcot disease
306504 JEB-RR
220497 Joubert syndrome with renal defect Juvenile chronic myelomonocytic
1201 Jejunal atresia 86834
220493 Joubert syndrome with retinopathy leukemia
Jejunal atresia-microcephaly-ocular
506307 Joubert syndrome with Senior- 411634 Juvenile cystinosis
anomalies syndrome 2318
Loken syndrome 93672 Juvenile dermatomyositis
1201 Jejunoileal atresia
475 Joubert-Boltshauser syndrome 93672 Juvenile DM
89840 JEN-nH
2801 JPG Juvenile elastoma without
→52368 Jensen syndrome 228254
247604 JPLS osteopoikilosis
90647 Jervell and Lange-Nielsen syndrome
2929 JPS 2929 Juvenile gastrointestinal polyposis
Jessner lymphocytic infiltration of
33314 2318 JS type B 98977 Juvenile glaucoma
the skin
1454 JS-H 79256 Juvenile GM1 gangliosidosis
Jessner-Kanof lymphocytic
33314 220493 JS-O
infiltration of the skin Juvenile GM2 gangliosidosis 0
309162
3283 JET 2318 JS-OR variant
220497 JS-R 79230 Juvenile hemochromatosis
Jeune asphyxiating thoracic
474 26137 JTA
dystrophy Juvenile hereditary epithelial
98954
474 Jeune syndrome 2319 Juberg-Hayward syndrome dystrophy of Meesmann
248111 JHD 101039 Juberg-Hellman syndrome 248111 Juvenile Huntington chorea
2929 JIP 93972 Juberg-Marsidi syndrome 248111 Juvenile Huntington disease
65684 JMADUE 3283 Junctional ectopic tachycardia 2028 Juvenile hyaline fibromatosis
307 JME Junctional epidermolysis bullosa Juvenile idiopathic rheumatoid
79404 85435
86834 JMML generalisata gravis factor-positive polyarthritis
324999 JMP syndrome Junctional epidermolysis bullosa 2929 Juvenile intestinal polyposis
79402
289596 JNA generalisata mitis 300605 Juvenile Lou Gehrig disease
79264 JNCL Junctional epidermolysis bullosa Juvenile muscular atrophy of distal
79405 65684
inversa upper extremity
2314 Job syndrome
Junctional epidermolysis bullosa Juvenile muscular atrophy of the
2315 Johanson-Blizzard syndrome 65684
306504 with respiratory and renal distal upper limb
Johnson neuroectodermal involvement
2316 391497 Juvenile myasthenia gravis
syndrome
Junctional epidermolysis bullosa, 86834 Juvenile myelomonocytic leukemia
85320 Johnson syndrome 79402
Disentis type 307 Juvenile myoclonic epilepsy
2316 Johnson-McMillin syndrome Junctional epidermolysis bullosa, 307 Juvenile myoclonus epilepsy
1112 Johnson-Munson syndrome 79402
generalized intermediate Juvenile nasopharyngeal
1485 Johnston-Aarons-Schelley syndrome 289596
Junctional epidermolysis bullosa, angiofibroma
Joint contractures-muscular 79404
generalized severe 79264 Juvenile NCL
atrophy-microcytic anemia- Junctional epidermolysis bullosa,
324999 79404 93592 Juvenile nephronophthisis
panniculitis-associated Herlitz type
lipodystrophy syndrome 411634 Juvenile nephropathic cystinosis
Junctional epidermolysis bullosa,
2295 Joint instability syndrome 79404 Juvenile neuronal ceroid
Herlitz-Pearson type 79264
2027 Jones syndrome lipofuscinosis
Junctional epidermolysis bullosa,
475 89840 157719 Juvenile or adult CACH syndrome
Joubert syndrome non-Herlitz type
475 Joubert syndrome type A 85193 Juvenile osteoporosis
Junctional epidermolysis bullosa-
79403 329894 Juvenile overlap myositis
Joubert syndrome with congenital pyloric atresia syndrome
1454 2801 Juvenile Paget disease
hepatic fibrosis 2321 Jung-Wolff-Back-Stahl syndrome
2801 Juvenile Paget's disease
ORPHA ORPHA ORPHA
Juvenile parkinsonism-neuronal →3157 Kaplowitz-Bodurtha syndrome Keratosis extremitatum hereditaria
314632 495
ceroid lipofuscinosis 33276 Kaposi sarcoma progrediens
247604 Juvenile PLS 2122 Kaposiform hemangioendothelioma 218 Keratosis follicularis
93568 Juvenile PM 464329 Kaposiform lymphangiomatosis Keratosis follicularis spinulosa
2340
93568 Juvenile polymyositis 183675 Kappa-chain deficiency decalvans
79076 Juvenile polyposis of infancy 2328 Kapur-Toriello syndrome Keratosis follicularis-dwarfism-
2339
2929 Juvenile polyposis syndrome 1381 Karandikar-Maria-Kamble syndrome cerebral atrophy syndrome
247604 Juvenile primary lateral sclerosis 2329 Karsch-Neugebauer syndrome Keratosis linearis-ichthyosis
85436 Juvenile psoriatic arthritis →244 Kartagener syndrome
281201 congenita-sclerosing keratoderma
Juvenile rheumatoid factor-negative 401996 Karyomegalic interstitial nephritis syndrome
85408 Keratosis palmaris et plantaris-
polyarthritis 2330 Kasabach-Merritt syndrome 86919
Juvenile rheumatoid factor-negative clinodactyly syndrome
Kasznica-Carlson-Coppedge
247854 polyarthritis with anti-nuclear 1894 Keratosis palmoplantar-
syndrome 678
antibodies periodontopathy syndrome
2473 Kaufman-Mckusick syndrome
Juvenile rheumatoid factor-negative Keratosis palmoplantaris
2331 Kawasaki disease 79141
247861 polyarthritis without anti-nuclear nummularis
2306 Kawashima syndrome
antibodies 50942 Keratosis palmoplantaris striata
2533 Kawashima-Tsuji syndrome
93399 Juvenile sialidosis type 2 Keratosis palmoplantaris striata et
2332 KBG syndrome 50942
83419 Juvenile spinal muscular atrophy areata
439218 KCNQ2-NEE Keratosis palmoplantaris
585 Juvenile sulfatidosis, Austin type 495
KCNQ2-related epileptic transgrediens et progrediens
26137 Juvenile temporal arteritis 439218
encephalopathy Keratosis palmoplantaris
158000 Juvenile xanthogranuloma 87503
KCNQ2-related neonatal epileptic transgrediens of Siemens
Juvenile-onset diabetes mellitus- 439218
encephalopathy Keratosis palmoplantaris varians of
445062 central and peripheral 50942
96169 KdVS Wachters
neurodegeneration syndrome
480 Kearns-Sayre syndrome Keratosis palmoplantaris with
Juvenile-onset multiple carboxylase 34217
79241 199260 Keasby tumor arrythmogenic cardiomyopathy
deficiency
2662 Keipert syndrome Keratosis palmoplantaris-corneal
Juvenile-onset vitelliform macular 28378
1243 79233 Kelley-Seegmiller syndrome dystrophy syndrome
dystrophy
→313795 Kelly-Kirson-Wyatt syndrome Keratosis palmoplantaris-cystic
Juxtaposition of the atrial
99100 54028 Kelly-Paterson syndrome 50944 eyelids-hypodontia-hypotrichosis
appendages
481 Kennedy disease syndrome
99100 Juxtaposition of the atrial auricles
64542 Kennedy-Teebi syndrome Keratosis palmoplantaris-
1540 JWS 2198
2333 Kenny syndrome esophageal carcinoma syndrome
2322 Kabuki make-up syndrome
2333 Kenny-Caffey syndrome Keratosis palmoplantaris-
2322 Kabuki syndrome
435628 Keppen-Lubinsky syndrome
2342 periodontopathia-onychogryposis
85146 Kaeser syndrome syndrome
254519 Kagami-Ogata syndrome Keratitis-ichthyosis-
499 Kerion celsi
Kagami-Ogata syndrome due to
477 deafness/Hystrix-like ichthyosis-
254534 deafness syndrome 529808 Kernicterus spectrum disorder
maternal 14q32.2 hypermethylation 3351 Kersey syndrome
447777 Keratocystic odontogenic tumor
Kagami-Ogata syndrome due to 293807 Ketamine-induced biliary dilatation
254528 494 Keratoderma hereditarium mutilans
maternal 14q32.2 microdeletion
Keratoderma hereditarium mutilans Ketoacidosis due to
Kagami-Ogata syndrome due to 79395 438075 monocarboxylate transporter-1
96334 paternal uniparental disomy of with ichthyosis
34217 Keratoderma with woolly hair type I deficiency
chromosome 14
Keratoderma with woolly hair type Ketoaciduria-intellectual disability-
29073 Kahler's disease 1399
65282 ataxia-deafness syndrome
→324737 Kahrizi syndrome II
2056 Ketohexokinase deficiency
2324 Kaler-Garrity-Stern syndrome Keratoderma with woolly hair type
420686 35 Ketotic hyperglycinemia
2325 Kallin syndrome IV
85202 Keutel syndrome
478 Kallmann syndrome Keratoderma-ichthyosiform
79395 dermatosis-elevated beta- 2988 Khalifa-Graham syndrome
Kallmann syndrome-heart disease Ki-1 positive anaplastic large cell
2326 glucuronidase syndrome
syndrome 98841
Keratodermia palmoplantaris lymphoma
99179 Kandori fleck retina
79501 papulosa, Buschke-Fischer-Brauer 477 KID syndrome
1836 Kantaputra mesomelic dysplasia type 477 KID/HID syndrome
79280 Kanzaki disease
50943 Keratolytic winter erythema 97332 Kienbock disease
949 Kaplan-Plauchu-Fitch syndrome 50918 Kikuchi disease
ORPHA ORPHA ORPHA
50918 Kikuchi-Fujimoto disease 2764 König disease Kyphoscoliosis-lateral tongue
482 Kimura disease →1215 Konigsmark-Knox-Hussels syndrome 496689 atrophy-hereditary spastic
401996 KIN 96169 Koolen-De Vries syndrome paraplegia syndrome
2908 Kindler syndrome Koolen-De Vries syndrome due to a Kyphoscoliosis-lateral tongue
363965 496689
99741 King-Denborough syndrome point mutation atrophy-HSP syndrome
565 Kinky hair disease 2892 Kopysc-Barczyk-Krol syndrome Kyphosis-lateral tongue atrophy-
496686
565 Kinky hair syndrome 254519 KOS myofibrillar myopathy syndrome
477831 Kosaki overgrowth syndrome 275543 L1 syndrome
1183 Kinsbourne syndrome
100996 Kjellin syndrome 2839 Kosenow syndrome 275543 L1CAM syndrome
99749 79314 L-2-HGA
98673 Kjer optic atrophy Kostmann syndrome
1129 Kosztolanyi syndrome 79314 L-2-hydroxyglutaric acidemia
99978 Klatskin tumor
261494 Kleefstra syndrome 99741 Koussef-Nichols syndrome 79314 L-2-hydroxyglutaric aciduria
Kleefstra syndrome due to 9q 2351 Kousseff syndrome L-Arginine:glycine
35704
96147 amidinotransferase deficiency
subtelomeric deletion 629 Kowarski syndrome
Kleefstra syndrome due to 9q34 Kozlowski-Brown-Hardwick
157973 L-CMD
96147 →2462 156 L-CPT1 deficiency
microdeletion syndrome
Kleefstra syndrome due to a point 3082 Kozlowski-Krajewska syndrome 156 L-CPTI deficiency
261652 440731
mutation 2204 Kozlowski-Tsuruta syndrome L-ferritin deficiency
Kleefstra syndrome due to 487 Krabbe disease 93599 L-glyceric aciduria
96147
del(9)(q34) 206436 216694 L-transposition of the great arteries
Krabbe disease, classic form
Kleefstra syndrome due to 206436 Krabbe disease, early-onset 83483 La Crosse encephalitis
96147
monosomy 9q34 206443 Krabbe disease, late-onset 53696 LAAHD
896 Klein-Waardenburg syndrome 1345 Krasnow-Qazi syndrome 3473 Laband syndrome
33543 Kleine-Levin syndrome 709 Krause-Kivlin syndrome Lacrimoauriculodentodigital
2363
2110 Kleiner-Holmes syndrome Krause-van Schooneveld-Kivlin syndrome
KLHL9-related early-onset distal 709 Lacrimoauriculoradiodental
399081 syndrome 2363
myopathy 284149 Kreiborg-Pakistani syndrome syndrome
281201 KLICK syndrome KRT14-related autosomal recessive
284426 Lactate dehydrogenase A deficiency
Klippel-Feil anomaly-myopathy- 89838 284435 Lactate dehydrogenase B deficiency
447974 EBS
facial dysmorphism syndrome KRT14-related autosomal recessive 2965 Lactotroph adenoma
2345 Klippel-Feil malformation 89838 2968 LAD
epidermolysis bullosa simplex
2345 Klippel-Feil sequence 529808 KSD 99844 LAD-1 variant
90308 Klippel-Trénaunay syndrome 293936 KTCNCT 99842 LAD-I
2346 Klippel-Trénaunay-Weber syndrome 447777 KTOC 99843 LAD-II
157823 Klüver-Bucy syndrome 306674 Kufor-Rakeb syndrome 99844 LAD-III
485 Kniest dysplasia 79262 Kufs disease 2363 LADD syndrome
1571 Knobloch syndrome 83419 Kugelberg-Welander disease 1484 Ladda-Zonana-Ramer syndrome
1571 Knobloch-Layer syndrome →1487 Kumar-Levick syndrome 158687 LAEB
Knuckle pads-leukonychia- 2505 Kunze-Riehm syndrome 501 Lafora disease
sensorineural deafness- →794 Kurczynski-Casperson syndrome Lagophthalmia-cleft lip and palate
2698 1997
palmoplantar hyperkeratosis 454745 Kuru syndrome
syndrome 59135 Laing early-onset distal myopathy
1149 Kuskokwim disease
Knuckle pads-leukonychia- 275761 LAL deficiency
1149 Kuskokwim syndrome
sensorineural deafness- 538 LAM
2698 767 Küssmaul-Maier disease
palmoplantar keratoderma LAMA5-related multisystemic
syndrome 449432 Küttner tumor 521450
2798 Kuzniecky syndrome syndrome
Kocher-Debré-Semelaigne LAMB2-related infantile-onset
2349 34217 KWWH type I
syndrome 306507
nephrotic syndrome
679 Köhlmeier-Degos disease 65282 KWWH type II
1296 Lambert syndrome
Köhlmeier-Degos-Delort-Tricort 420686 KWWH type IV
679 Lambert-Eaton myasthenic
syndrome 319254 Kyasanur forest disease 43393
syndrome
1946 Kohlschutter-Tonz syndrome 319254 Kyasanur hemorrhagic fever
313 Lamellar ichthyosis
3197 Kok disease 79155 Kynureninase deficiency
90024 LAMM syndrome
99077 Kommerell diverticulum 1801 Kyphomelic dysplasia
98818 Landau-Kleffner syndrome
3130 Komuragaeri disease
ORPHA ORPHA ORPHA
354 Landing disease Laryngotracheoesophageal cleft 137776 LCCS2
93941
269 Landouzy-Dejerine myopathy type 4 137783 LCCS3
231031 Lane disease 1202 Larynx atresia 363409 LCCS5
2632 Langer mesomelic dysplasia 99824 Lassa fever 98964 LCD1
502 Langer-Giedion syndrome 99824 Lassa hemorrhagic fever 93558 LCDD
86897 Langerhans cell sarcoma Late hereditary endothelial 98964 LCDI
98974
2368 Laparoschisis dystrophy 5 LCHAD deficiency
Laplane-Fontaine-Lagardere 157716 Late infantile CACH syndrome 5 LCHADD
→1159
syndrome 168491 Late infantile NCL 52416 LCM
2363 LARD syndrome Late infantile neuronal ceroid 626 LCMN
168491
Large cell lymphoma of the lipofuscinosis 363618 LCPS
98838
mediastinum 79256 Late-infantile GM1 gangliosidosis 65285 LDD
626 Large congenital melanocytic nevus Late-infantile/juvenile Krabbe 2364 LDH deficiency
206443
633 Laron syndrome disease 284435 LDH-H subunit deficiency
Laron syndrome with Late-onset benign childhood 284426 LDH-M subunit deficiency
220465 98816
immunodeficiency occipital epilepsy
2616 Le Merrer syndrome
220465 Laron-like syndrome 247573 Late-onset citrullinemia type 1
330015 Lead intoxication
633 Laron-type dwarfism 247573 Late-onset citrullinemia type I
330015 Lead poisoning
503 Larsen syndrome 399058 Late-onset distal crystallinopathy
3246 Learman syndrome
Larsen-like osseous dysplasia-short Late-onset distal myopathy,
2370 98912 65 Leber congenital amaurosis
stature syndrome Markesbery-Griggs type
104 Leber hereditary optic neuropathy
284139 Larsen-like syndrome, B3GAT3 type Late-onset familial encephalopathy
530303 190 Leber miliary aneurysm
2808 Laryngeal abductor paralysis with neuroserpin inclusion bodies
104 Leber optic atrophy
Laryngeal abductor paralysis- 228227 Late-onset focal dermal elastosis
2375 99718 Leber plus disease
intellectual disability syndrome 163708 Late-onset infantile spasms
199299 Late-onset isolated ACTH deficiency
98955 LECD
Laryngeal and ocular granulation
Late-onset junctional epidermolysis Lecithin-cholesterol acyltransferase
2407 tissue in children from the Indian 650
79406 deficiency
subcontinent syndrome bullosa
Late-onset localized junctional
199251 Ledderhose disease
100083 Laryngeal neuroendocrine tumor
231556 epidermolysis bullosa-intellectual Left renal vein entrapment
Laryngo-onycho-cutaneous 71273
2407 disability syndrome syndrome
syndrome
Late-onset multiple carboxylase Left superior caval vein persisting to
2004 Laryngo-tracheo-esophageal cleft 79241 99111
deficiency left-sided atrium
Laryngo-tracheo-esophageal cleft
280205 93589 Late-onset nephronophthisis Left superior caval vein persisting to
type 0 99109
90186 Late-onset primary lymphedema the left-sided atrium
Laryngo-tracheo-esophageal cleft
93938 Left superior vena cava persisting to
type 1 67042 Late-onset retinal degeneration 99111
left-sided atrium
Laryngo-tracheo-esophageal cleft 2789 Lateral meningocele syndrome
93939 Left SVC persisting to left-sided
type 2 141136 Laterofacial microsomia 99111
atrium
Laryngo-tracheo-esophageal cleft 46059 Lathosterolosis
93940 54260 Left ventricular hypertrabeculation
type 3 98964 Lattice corneal dystrophy type 1
54260 Left ventricular noncompaction
Laryngo-tracheo-esophageal cleft 98964 Lattice corneal dystrophy type I
93941 Left ventricular-to-right atrial
type 4 99094 Laubry-Pezzi syndrome 99095
communication
Laryngo-tracheo-esophageal 2398 Launois-Bensaude lipomatosis
2004 Leg duplication-mirror foot
diastema 2377 Laurence-Moon syndrome 1757
syndrome
2372 Laryngocele 2378 Laurin-Sandrow syndrome 2380 Legg-Calvé-Perthes disease
137935 Laryngotracheal angioma 79086 Lawrence syndrome 549 Legionellosis
2004 Laryngotracheoesophageal cleft 79086 Lawrence-Seip syndrome 549 Legionnaires disease
Laryngotracheoesophageal cleft 2379 Laxova-Opitz syndrome
280205 137605 Legius syndrome
type 0 137898 LBSL
Laryngotracheoesophageal cleft
2789 Lehman syndrome
93938 2369 LBWC syndrome 1647 Leichtman-Wood-Rohn syndrome
type 1
2004 LC 255241 Leigh disease with leukodystrophy
Laryngotracheoesophageal cleft
93939 99900 LCAD 70474
type 2 Leigh disease with myopathy
650 LCAT deficiency Leigh disease with nephrotic
Laryngotracheoesophageal cleft 255249
93940 1486 LCCS1 syndrome
type 3
ORPHA ORPHA ORPHA
Leigh necrotizing encephalopathy Lethal arteriopathy syndrome due Lethal polymalformative syndrome,
314718 210144
3008 due to pyruvate carboxylase to fibulin-4 deficiency Boissel type
deficiency Lethal arthrogryposis-anterior horn Lethal popliteal pterygium
53696 1234
Leigh syndrome due to PC cell disease syndrome syndrome
3008
deficiency Lethal ataxia with deafness and 1423 Lethal recessive chondrodysplasia
1187
Leigh syndrome due to pyruvate optic atrophy 1662 Lethal restrictive dermopathy
3008
carboxylase deficiency Lethal congenital contracture Lethal short-limb dwarfism,
1486 →56304
Leigh syndrome with syndrome type 1 McAlister-Crane type
70474
cardiomyopathy Lethal congenital contracture Lethal skeletal dysplasia-fetal
137776
Leigh syndrome with syndrome type 2 akinesia-contractures-thoracic
255241 464366
leukodystrophy Lethal congenital contracture dysplasia-pulmonary hypoplasia
137783
Leigh syndrome with nephrotic syndrome type 3 syndrome
255249
syndrome Lethal congenital contracture Lethal variant of Simpson-Golabi-
363409 →300496
Leigh syndrome, French-Canadian syndrome type 5 Behmel syndrome
70472
type 1972 Lethal faciocardiomelic dysplasia 529831 Letrozole toxicity
Leigh syndrome, Saguenay-Lac- Lethal fetal brain malformation- 99870 Letterer-Siwe disease
70472
Saint-Jean type 444069 duodenal atresia-bilateral renal 58017 Leukemic reticuloendotheliosis
Leigh-like basal ganglia disease- hypoplasia syndrome Leukemic reticuloendotheliosis
485421 optic atrophy-peripheral neuropathy 300878
Lethal fetal variant
syndrome 439897 cerebrorenogenitourinary 2968 Leukocyte adhesion deficiency
Leigh-like encephalopathy-optic agenesis/hypoplasia syndrome Leukocyte adhesion deficiency type
485421 atrophy-peripheral neuropathy Lethal hemolytic anemia-genital 99842
1046 I
syndrome anomalies syndrome Leukocyte adhesion deficiency type
314 Leiner disease Lethal hydranencephaly- 99843
480528 II
Leiomyomatosis peritonealis diaphragmatic hernia syndrome Leukocyte adhesion deficiency type
71274 99844
disseminate Lethal hydrocephalus-cardiac III
64720 Leiomyosarcoma 1237 malformation-dense bones Leukocyte adhesion deficiency-1
104076 Leiomyosarcoma of small intestine syndrome 99844
variant
213807 Leiomyosarcoma of the cervix uteri Lethal infantile mitochondrial Leukocyte chemotactic factor-2
254857 439224
213625 Leiomyosarcoma of the corpus uteri disease amyloidosis
507 Leishmaniasis Lethal infantile mitochondrial Leukodystrophy due to alkaline
254857 502444
140936 Lelis syndrome myopathy ceramidase 3 deficiency
137839 Lemierre postanginal sepsis Lethal intrauterine growth 77295 Leukodystrophy with oligodontia
2570 restriction-cortical malformation-
137839 Lemierre syndrome Leukoencephalopathy with bilateral
congenital contractures syndrome 139444
497906 Lenk-Ploski syndrome anterior temporal lobe cysts
2347 Lethal Kniest-like dysplasia Leukoencephalopathy with brain
2382 Lennox-Gastaut syndrome
2371 Lethal Larsen-like syndrome 137898 stem and spinal cord involvement-
209959 Lens-induced endophthalmitis
Lethal left ventricular non- high lactate syndrome
209959 Lens-induced iridocyclitis
compaction-seizures-hypotonia- Leukoencephalopathy with brain
209959 Lens-induced uveitis 478049
cataract-developmental delay 137898 stem and spinal cord involvement-
568 Lenz microphthalmia syndrome lactate elevation syndrome
Lenz-Majewski hyperostotic 86879 Lethal midline granuloma
2658 Leukoencephalopathy with mild
dwarfism 33108 Lethal multiple pterygium syndrome 363540 cerebellar ataxia and white matter
500 LEOPARD syndrome Lethal neonatal rigidity-multifocal edema
330032 Lepore-beta-thalassemia syndrome 435845
seizure syndrome Leukoencephalopathy with
508 Leprechaunism 135
Lethal neonatal spasticity-epileptic vanishing white matter
548 Leprosy 435845
encephalopathy syndrome Leukoencephalopathy-dystonia-
252031 Leptomeningeal melanomatosis 163684
Lethal neurodegenerative disorder motor neuropathy syndrome
300313
268838 Leptomyelolipoma due to copper transport defect Leukoencephalopathy-metaphyseal
509 Leptospirosis 83629
Lethal occipital encephalocele- chondrodysplasia syndrome
293925
2900 Leri pleonosteosis skeletal dysplasia syndrome Leukoencephalopathy-palmoplantar
2386
240 Léri-Weill dyschondrosteosis Lethal omphalocele-cleft palate keratoderma syndrome
2736
240 Léri-Weill syndrome syndrome Leukoencephalopathy-thalamus and
510 Lesch-Nyhan syndrome 216804 Lethal osteogenesis imperfecta 314051 brainstem anomalies-high lactate
Lethal acantholytic epidermolysis 1832 Lethal osteosclerotic bone dysplasia syndrome
158687
bullosa
ORPHA ORPHA ORPHA
Leukomelanoderma-infantilism- 267 LGMD2A 85443 Light-chain amyloidosis
1816 intellectual disability-hypodontia- 268 LGMD2B 97231 Ligneous conjunctivitis
hypotrichosis syndrome 353 LGMD2C 2369 Limb body wall complex
2387 Leukonychia totalis 62 LGMD2D 974 Limb, scalp and skull defects
Leukonychia totalis-acanthosis- 119 LGMD2E Limb-girdle muscular dystrophy due
210133 nigricans-like lesions-abnormal hair 62
219 LGMD2F to alpha-sarcoglycan deficiency
syndrome 34514 LGMD2G Limb-girdle muscular dystrophy due
119
Leukonychia totalis-trichilemmal 1878 LGMD2H to beta-sarcoglycan deficiency
2045
cysts-ciliary dystrophy syndrome Limb-girdle muscular dystrophy due
34515 LGMD2I 267
79507 Leukotriene C4 synthase deficiency to calpain deficiency
140922 LGMD2J
2743 Levic-Stefanovic-Nikolic syndrome Limb-girdle muscular dystrophy due
86812 LGMD2K 265
2388 Levine-Critchley syndrome to caveolin-3 deficiency
206549 LGMD2L
Levo-transposition of the great Limb-girdle muscular dystrophy due
216694 206554 LGMD2M 219
arteries to delta-sarcoglycan deficiency
206559 LGMD2N
95854 Levocardia Limb-girdle muscular dystrophy due
206564 LGMD2O 268
95854 Levocardia with situs inversus to dysferlin deficiency
280333 LGMD2P
2363 Levy-Hollister syndrome Limb-girdle muscular dystrophy due
254361 LGMD2Q 34515
302 Lewandowsky-Lutz syndrome to FKRP deficiency
363543 LGMD2R Limb-girdle muscular dystrophy due
→1896 Lewis-Pashayan syndrome
369840 LGMD2S 353
48162 Lewis-Sumner syndrome to gamma-sarcoglycan deficiency
363623 LGMD2T Limb-girdle muscular dystrophy due
755 Leydig cell hypoplasia 264
352479 LGMD2U to lamin A/C deficiency
Leydig cell hypoplasia due to
96265 466801 LGMD2W
complete LH receptor inactivation Limb-girdle muscular dystrophy due
266
476084 LGMD2X to myotilin deficiency
Leydig cell hypoplasia due to
96265 424261 LGMD2Y Limb-girdle muscular dystrophy due
complete LH resistance 445110
Leydig cell hypoplasia due to 480682 LGMD2Z to POMK deficiency
96265 complete luteinizing hormone 445110 LGMD due to POMK deficiency Limb-girdle muscular dystrophy due
34514
receptor inactivation 93557 LHCDD to telethonin deficiency
Leydig cell hypoplasia due to 65285 Lhermitte-Duclos disease Limb-girdle muscular dystrophy due
1878
96265 complete luteinizing hormone 104 LHON to TRIM32 deficiency
resistance 99718 LHON plus disease Limb-girdle muscular dystrophy
257
Leydig cell hypoplasia due to LHB 313 LI with epidermolysis bullosa simplex
325448
deficiency 524 Li-Fraumeni syndrome Limb-girdle muscular dystrophy
52430
Leydig cell hypoplasia due to 49804 Lichen amyloidosis with Paget disease of bone
325448 luteinizing hormone subunit beta 49804 Lichen amyloidosus Limb-girdle muscular dystrophy-
86812
deficiency intellectual disability syndrome
525 Lichen follicularis
Leydig cell hypoplasia due to partial 69085 Limb-mammary syndrome
96266 525 Lichen planopilaris
LH receptor inactivation 171673 Limbal stem cell deficiency
254395 Lichen planus actinus
Leydig cell hypoplasia due to partial Limbic encephalitis with caspr2
96266 525 Lichen planus follicularis 276402
LH resistance antibodies
254478 Lichen planus pemphigoides
Leydig cell hypoplasia due to partial Limbic encephalitis with dipeptidyl-
254463 Lichen planus pigmentosa 329341
96266 luteinizing hormone receptor peptidase 6 antibodies
inactivation 254463 Lichen planus pigmentosus Limbic encephalitis with DPP6
254463 Lichen planus pigmentosus inversus 329341
Leydig cell hypoplasia due to partial antibodies
96266 254395 Lichen planus subtropicus
luteinizing hormone resistance Limbic encephalitis with DPPX
254395 Lichen planus tropicus 329341
99824 LF antibodies
844 LGL syndrome 254395 Lichenoid melanodermatitis Limbic encephalitis with leucine-rich
163908
266 LGMD1A 2390 Lichtenstein syndrome glioma-inactivated 1 antibodies
264 LGMD1B 448251 Lichtenstein-Knorr syndrome Limbic encephalitis with LGI1
163908
265 LGMD1C 526 Liddle syndrome antibodies
34516 LGMD1D 1275 Liebenberg syndrome Limbic encephalitis with N-methyl-
217253
34517 LGMD1E 99812 LIG4 syndrome D-aspartate receptor antibodies
55595 LGMD1F 99812 Ligase 4 syndrome Limbic encephalitis with neurexin-3
498700
55596 LGMD1G Light and heavy chain deposition antibodies
93557
238755 LGMD1H disease Limbic encephalitis with NMDA
217253
93558 Light chain deposition disease receptor antibodies
ORPHA ORPHA ORPHA
Limbic encephalitis-neuromyotonia- 268835 Lipomyelomeningocele 93924 Lobar holoprosencephaly
83467 hyperhidrosis-polyneuropathy 329481 Lipoprotein glomerulopathy 666 Lobstein disease
syndrome 69078 Liposarcoma 2407 LOC syndrome
254857 LIMD 238593 Liposclerotic mesenteritis 314709 Localized AL amyloidosis
366 Limit dextrinosis 401862 Lipoyl transferase 1 deficiency 93685 Localized Castleman disease
Limited cutaneous systemic 447795 Lipoyl transferase 2 deficiency 263534 Localized deciduous skin
220402
scleroderma 98955 Lisch epithelial corneal dystrophy Localized epidermolysis bullosa
Limited cutaneous systemic 79400
220402 2400 Lisker-Garcia-Ramos syndrome simplex
sclerosis 101003 Lison syndrome 90289 Localized fibrosing scleroderma
220407 Limited systemic sclerosis Lissencephaly due to 17p13.3 Localized junctional epidermolysis
254857 LIMM 531 251393
deletion bullosa, non-Herlitz type
168491 LINCL 95232 Lissencephaly due to LIS1 mutation Localized lichen myxedematosus
892 Lindau disease 90398 with mixed features of different
Lissencephaly due to TUBA1A
3077 Lindsay-Burn syndrome 171680 subtypes
mutation
Linear and whorled nevoid Lissencephaly syndrome, Norman- Localized lichen myxedematosus
79150 89844
hypermelanosis Roberts type 90399 with monoclonal gammopathy or
140933 Linear atrophoderma of Moulin Lissencephaly type 1 due to systemic symptoms
2148 178517 Localized pagetoid reticulosis
228236 Linear focal dermal elastosis doublecortin gene mutation
228236 Linear focal elastosis Lissencephaly type 2 without 263534 Localized PSS
352682
2611 Linear hamartoma syndrome muscular or eye involvement 163927 Localized pustular psoriasis
46488 Linear IgA dermatosis Lissencephaly type 2 without 90289 Localized scleroderma
352682
254379 Linear lichen planus muscular or ocular involvement 2406 Locked-in syndrome
254379 Linear LP Lissencephaly type 3-familial fetal 75566 Loeffler endocarditis
86821
2612 Linear nevus sebaceus syndrome akinesia sequence syndrome 60030 Loeys-Dietz syndrome
2611 Linear verrucous nevus syndrome Lissencephaly type 3-metacarpal 2407 LOGIC syndrome
86822
36273 Linitis plastica of the stomach bone dysplasia syndrome Logopenic primary progressive
250831
888 Lip-pit syndrome Lissencephaly with cerebellar aphasia
100011
LIPE-related familial partial hypoplasia type A 250831 Logopenic progressive aphasia
435660 Lissencephaly with cerebellar
lipodystrophy 100012 250831 Logopenic variant PPA
435660 LIPE-related FPLD hypoplasia type B 2404 Loiasis
77243 Lipedema Lissencephaly with cerebellar Long chain 3-hydroxyacyl-CoA
100013 5
hypoplasia type C dehydrogenase deficiency
Lipoamide dehydrogenase
255182 Lissencephaly with cerebellar
deficiency 100014 Long chain acyl-CoA dehydrogenase
hypoplasia type D 99900
90160 Lipoatrophia semicircularis deficiency
Lissencephaly with cerebellar Long eyelashes-intellectual
528 Lipoatrophic diabetes 100015 3363
hypoplasia type E disability syndrome
90157 Lipoatrophy caused by injected drug
Lissencephaly with cerebellar 90647 Long QT interval-deafness syndrome
Lipoatrophy with diabetes, 100016
hypoplasia type F 37553 Long QT syndrome type 7
leukomelanodermic papules, liver
156156 533 Listeria infection 65283 Long QT syndrome type 8
steatosis, and hypertrophic
533 Listeriosis
cardiomyopathy Long QT syndrome-syndactyly
Livedo racemosa-cerebrovascular 65283
247762 Lipoblastoma 820 syndrome
accident syndrome Long-chain 3-hydroxyacyl-coenzyme
Lipodystrophia centrifugalis 5
90156 Livedo reticularis-cerebrovascular
abdominalis infantilis 820 A dehydrogenase deficiency
accident syndrome 180157 Longitudinal vaginal septum
Lipodystrophy due to peptidic
1979 Liver disease-retinitis pigmentosa-
growth factors deficiency 79095 52054 Longman-Tolmie syndrome
polyneuropathy-epilepsy syndrome
Lipodystrophy-intellectual 168 Loose anagen syndrome
50811 Liver glycogen phosphorylase
disability-deafness syndrome 369 411602 LOPD
deficiency
Lipodystrophy-Rieger anomaly- 2832 Lopes-Gorlin syndrome
3163 98818 LKS
diabetes syndrome 2266 Lopes-Marques de Faria syndrome
401859 Lipoic acid synthetase deficiency LMNA-related cardiocutaneous
363618 67042 LORD
progeria syndrome
139436 Lipoid dermatoarthritis 79395 Loricrin keratoderma
LMNA-related congenital muscular
530 Lipoid proteinosis 157973 803 Lou Gehrig disease
dystrophy
36397 Lipomatosis dolorosa 100 Louis-Bar syndrome
33108 LMPS
238593 Lipomatous mesenteritis 171215 Low anorectal malformation
69085 LMS
812 Lipomucopolysaccharidosis 251633 Low grade ependymoma
ORPHA ORPHA ORPHA
Low phospholipid-associated 93938 LTEC I →33001 Lymphedema-ptosis syndrome
69663
cholelithiasis 93939 LTEC II Lymphoadenopathic mastocytosis
158793
140949 Low-flow priapism 93940 LTEC III with eosinophilia
Low-grade neuroendocrine tumor of 93941 LTEC IV Lymphoblastoid variant of NK-cell
213736 86870
the corpus uteri 53351 Lubag lymphoma
Low-grade neuroendocrine tumor of 53351 Lubag syndrome Lymphocytic hypereosinophilic
213736 314970
the uterine corpus 2575 Lubani-Al Saleh-Teebi syndrome syndrome
Low-molecular-weight proteinuria 2410 Lubinsky syndrome 79128 Lymphocytic interstitial pneumonia
1652 with hypercalciuria and →1762 Lubs-Arena syndrome 314970 Lymphocytic variant HES
nephrocalcinosis 289682 Lymphoepithelial-like carcinoma
2312 Lucey-Driscoll syndrome
534 Lowe disease 86886 Lymphogranulomatosis X
776 Lujan syndrome
534 Lowe oculo-cerebro-renal syndrome 314970 Lymphoid HES
776 Lujan-Fryns syndrome
534 Lowe syndrome 79128 Lymphoid interstitial pneumonia
319213 Lujo hemorrhagic fever
2408 Lowe-Kohn-Cohen syndrome 86869 Lymphomatoid granulomatosis
83628 LUMBAR syndrome
Lower body hemangioma-urogenital 98842 Lymphomatoid papulosis
268388 Lumbosacral spina bifida aperta
anomalies-myelopathy-bony 329998 Lymphomatous meningitis
268758 Lumbosacral spina bifida cystica
83628 deformities-anorectal and arterial
97332 Lunatomalacia Lymphoplasmacytic lymphoma
malformations-renal anomalies 443159
2928 Lundberg syndrome without IgM production
syndrome
Lung agenesis-heart defect-thumb Lymphoplasmacytic lymphoma
Lower extremity-predominant 1120 443159 without Immunoglobulin M
363447 autosomal dominant proximal spinal anomalies syndrome
production
muscular atrophy Lung fibrosis-immunodeficiency-
137631 Lymphoplasmacytic sclerosing
295051 Lower limb hypertrophy 46,XX gonadal dysgenesis syndrome 280302
pancreatitis
Lower limb malformation- 90285 Lupus erythematosus panniculitis
2487 144 Lynch syndrome
hypospadias syndrome 90285 Lupus erythematosus profundus
1123 Lynch-Lee-Murday syndrome
141064 Lower lip fistula 90283 Lupus erythematosus tumidus
3196 Lyngstadaas syndrome
Lower motor neuron syndrome with Luteal-phase-dependent febrile
276435 498251 98842 LyP
late-adult onset episode
Luteal-phase-dependent periodic Lysine alpha-ketoglutarate
844 Lown-Ganong-Levine syndrome 498251
2203
fever reductase deficiency
1533 Lowry syndrome
470 Lysinuric protein intolerance
2409 Lowry-MacLean syndrome Luteinizing hormone-releasing
1173 275761 Lysosomal acid lipase deficiency
1824 Lowry-Wood syndrome hormone deficiency with ataxia
Lutz-Lewandowsky Lysosomal acid phosphatase
2003 Lowry-Yong syndrome 302 35121
epidermodysplasia verruciformis deficiency
254478 LP pemphigoides
→2697 Lutz-Richner-Landolt syndrome Lysosomal alpha-D-mannosidase
254463 LP pigmentosa 61
54260 LVNC deficiency
254463 LP pigmentosus Lysosomal alpha-D-mannosidase
250831 LPA
79150 LWNH 309288
deficiency, adult form
537 Lyell syndrome
69663 LPAC Lysosomal alpha-D-mannosidase
86869 LYG 309282
71274 LPD deficiency, infantile form
91546 Lyme borreliosis
329481 LPG Lysosomal glycogen storage disease
91546 Lyme disease 34587
470 LPI with normal acid maltase activity
538 Lymphangioleiomyomatosis
309015 LPL deficiency Lysosomal membrane cobalamin
2035 Lymphatic filariasis 79284
163927 LPP transporter deficiency
525 LPP
662 Lymphedema with yellow nails 93561 Lysozyme amyloidosis
37553 LQT7 Lymphedema-atrial septal defects- 90020 Lytico-Bodig disease
86915
facial changes syndrome 330041 M hemoglobinopathy
65283 LQT8
Lymphedema-cerebral 247262 Mabry syndrome
498481 LRP5-related primary osteoporosis 86914
arteriovenous anomaly syndrome
314051 LTBL 98938 MAC
33001 Lymphedema-distichiasis syndrome
79507 LTC4 synthase deficiency Mac Duffie hypocomplementemic
Lymphedema-hypoparathyroidism 36412
2004 LTEC 1563 urticarial vasculitis
syndrome syndrome
280205 LTEC0 36412 Mac Duffie syndrome
Lymphedema-lymphangiectasia-
93938 LTEC1 2136 MacDermot-Patton-Williams
intellectual disability syndrome 2220
93939 LTEC2 syndrome
Lymphedema-posterior choanal
93940 LTEC3 99141 2083 MacDermot-Winter syndrome
atresia syndrome
93941 LTEC4 98757 Machado disease
ORPHA ORPHA ORPHA
98757 Machado-Joseph disease Macrosomia-microphthalmia-cleft Male EBP disorder with neurological
2432 401973
276238 Machado-Joseph disease type 1 palate syndrome defects
276241 Machado-Joseph disease type 2 Macrosomia-obesity-macrocephaly- Male hypergonadotropic
2563
276244 Machado-Joseph disease type 3 ocular abnormalities syndrome 2234 hypogonadism-intellectual disability-
319229 Machupo hemorrhagic fever 141276 Macrostomia skeletal anomalies syndrome
Macias Flores-Garcia Cruz-Rivera Macrostomia-preauricular tags- Male infertility due to acephalic
79495 83619 529970
syndrome external ophthalmoplegia syndrome spermatozoa
1574 Mackay-Shek-Carr syndrome Macrothrombocytopenia with Male infertility due to
→182050 171709
468672 MACOM syndrome leukocyte inclusions globozoospermia
Macroblepharon-ectropion- Macrothrombocytopenia with Male infertility due to large-headed
220448 137893
357158 hypertelorism-macrostomia mitral valve insufficiency multiflagellar polyploid spermatozoa
syndrome Macrothrombocytopenia- Male infertility due to
137893
Macrocephalic sperm head lymphedema-developmental delay- macrozoospermia
137893 487796
syndrome facial dysmorphism-camptodactyly Male infertility due to NANOS1
→399808
Macrocephaly-alopecia-cutis laxa- syndrome mutation
217335 217335 MACS syndrome Male infertility due to round-
scoliosis syndrome 171709
Macrocephaly-capillary 137814 Macular amyloidosis headed spermatozoa
60040 Macular coloboma-cleft palate- Male infertility with azoospermia or
malformation syndrome 91494
hallux valgus syndrome 399805 oligozoospermia due to single gene
Macrocephaly-cutis marmorata
60040 98969 Macular corneal dystrophy mutation
telangiectatica congenita syndrome
Macrocephaly-developmental delay Maculopapular cutaneous Male infertility with normal
79457 →399805
397612 mastocytosis virilization due to maturation arrest
syndrome
Macrocephaly-intellectual disability- 2457 MAD Male infertility with normal
→399805
210548 virilization due to meiosis defect
autism syndrome 26791 MAD deficiency
Macrocephaly-intellectual disability- 394532 MAD deficiency, mild type Male infertility with
399808 teratozoospermia due to single gene
466791 left ventricular non compaction MAD deficiency, severe neonatal
394529 mutation
syndrome type
Macrocephaly-intellectual disability- 26791 MADD Male sterility due to chromosome Y
1646
457485 neurodevelopmental disorder-small deletion
394532 MADD, mild type
thorax syndrome 3000 Male-limited precocious puberty
394529 MADD, severe neonatal type
Macrocephaly-obesity-mental Maligant granulosa cell tumor of the
35688 Madelung deformity 99915
2563 disability-ocular abnormalities ovary
295223 Madelung deformity, bilateral
syndrome Malignancy diagnosed during
295221 Madelung deformity, unilateral 289385
Macrocephaly-short stature- pregnancy
2427 2398 Madelung disease
paraplegia syndrome 98839 Malignant angioendotheliomatosis
137867 Madras motor neuron disease
Macrocephaly-spastic paraplegia- 679 Malignant atrophic papulosis
2429 48162 MADSAM
dysmorphism syndrome 100093 Malignant carcinoid syndrome
2583 Madura foot Malignant dysgerminomatous germ
79489 Macrocystic lymphangioma
1942 MAE 99912
Macrocystic lymphatic cell tumor of the ovary
79489 199354 Maeda syndrome
malformation Malignant epithelial tumor of
163634 Maffucci syndrome 276145
295044 Macrodactyly of fingers salivary glands
324972 MAGIC syndrome Malignant germ cell tumor of the
295241 Macrodactyly of fingers, bilateral 213837
438274 Mahvash disease cervix uteri
295239 Macrodactyly of fingers, unilateral
77297 Majeed syndrome Malignant germ cell tumor of the
295047 Macrodactyly of foot 213751
295245 Macrodactyly of foot, bilateral Majewski osteodysplastic corpus uteri
2637
primordial dwarfism type II Malignant germ cell tumor of the
295243 Macrodactyly of foot, unilateral 206489
Major histocompatibility complex vagina
295044 Macrodactyly of hand 572
class II expression deficiency Malignant hyperthermia of
295241 Macrodactyly of hand, bilateral 423
70470 Major hyperlipidemia anesthesia
295239 Macrodactyly of hand, unilateral
210272 Mal de débarquement Malignant hyperthermia-
295047 Macrodactyly of toes 2215
87503 Mal de Meleda arthrogryposis-torticollis syndrome
295245 Macrodactyly of toes, bilateral 252050 Malignant melanoma of meninges
556 Malakoplakia
295243 Macrodactyly of toes, unilateral
420179 Malan overgrowth syndrome 168999 Malignant melanoma of the mucosa
2477 Macroencephaly
673 Malaria Malignant migrating partial epilepsy
158061 Macrophage activation syndrome 293181
75376 Malattia leventinese of infancy
592 Macrophagic myofasciitis
ORPHA ORPHA ORPHA
Malignant migrating partial seizures 50920 Mammary polyadenomatosis 99826 Marburg virus disease
293181
of infancy 238744 Mammary-digital-nail syndrome 500135 MARCH syndrome
Malignant mixed Müllerian tumor 397941 MAN1B1-CDG 221074 Marchiafava-Bignami disease
213610
of the corpus uteri Man5GlcNAc2-PP-Dol flippase 447 Marchiafava-Micheli disease
244310
Malignant mixed Müllerian tumor deficiency 91412 Marcus-Gunn phenomenon
213512
of the ovary Mandibular arteriovenous 91412 Marcus-Gunn syndrome
141174
Malignant Müllerian mixed tumor malformation 2461 Marden-Walker syndrome
213787
of the cervix uteri Mandibular hypoplasia-deafness- 2460 Marden-Walker-like syndrome
3148 Malignant neurilemmoma 363649 progeroid features-lipodystrophy 1120 Mardini-Nyhan syndrome
3148 Malignant neurofibroma syndrome 558 Marfan syndrome
Malignant non-dysgerminomatous Mandibular hypoplasia-hearing loss- 284963 Marfan syndrome type 1
206538 363649
germ cell tumor of ovary progeroid syndrome
284973 Marfan syndrome type 2
99912 Malignant ovarian dysgerminoma Mandibulfacial dysostosis with
246 Marfanoid craniosynostosis
Malignant paroxysmal ventricular postaxial limb anomalies 2462
3286 syndrome
tachycardia Mandibulo-palpebral synkinesis-
91412 Marfanoid habitus-autosomal
252128 Malignant perineurioma ptosis syndrome
2463 recessive intellectual disability
Malignant peripheral nerve sheath 2457 Mandibuloacral dysplasia
3148 syndrome
tumor Mandibuloacral dysplasia with type Marfanoid habitus-craniosynostosis
90153
Malignant peripheral nerve sheath A lipodystrophy →60030
syndrome
252128 tumor with perineurial Mandibuloacral dysplasia with type
90154 Marfanoid habitus-inguinal hernia-
differentiation B lipodystrophy 314041
advanced bone age syndrome
Malignant peripheral nerve sheath Mandibulofacial dysostosis with 2464 Marfanoid syndrome, De Silva type
443995
252212 tumor with rhabdomyosarcomatous alopecia
Margarita island ectodermal
differenciation Mandibulofacial dysostosis with →3253
245 dysplasia
Malignant peripheral preaxial limb anomalies
Marie Unna congenital
213812 neuroectodermal tumor of the Mandibulofacial dysostosis without 444
861 hypotrichosis
cervix uteri limb anomalies
Marie Unna hereditary
Malignant peripheral Mandibulofacial dysostosis, Guion- 444
79113 hypotrichosis
213630 neuroectodermal tumor of the Almeida type
101104 Marin-Amat syndrome
corpus uteri Mandibulofacial dysostosis, Toriello
1131 559 Marinesco-Sjögren syndrome
168811 Malignant peritoneal mesothelioma type
499182 Malignant pilomatricoma
2717 Marles syndrome
Mandibulofacial dysostosis-
69077 Malignant rhabdoid tumor 357158 macroblepharon-macrostomia Marles-Greenberg-Persaud
2717
syndrome syndrome
3148 Malignant schwannoma
Mandibulofacial dysostosis-
583 Maroteaux-Lamy disease
Malignant Sertoli-Leydig cell tumor 79113
99916 Maroteaux-Le Merrer-Bensahel
of the ovary microcephaly syndrome 2767
306682 Manganese intoxication syndrome
398987 Malignant teratoma of ovary
306682 Manganese poisoning
950 Maroteaux-Malamut syndrome
99868 Malignant thymoma
306682 Manganism Maroteaux-Stanescu-Cousin
252212 Malignant triton tumor 1423
syndrome
180242 Malignant tubal tumor 2717 Manitoba oculotrichoanal syndrome
Maroteaux-Verloes-Stanescu
180242 Malignant tumor of fallopian tubes 79327 Mannosyltransferase 1 deficiency 1040
syndrome
943 Malonic aciduria 79326 Mannosyltransferase 2 deficiency
560 Marshall syndrome
Malonyl-CoA decarboxylase 79321 Mannosyltransferase 6 deficiency
943 Marshall syndrome with periodic
deficiency 79328 Mannosyltransferase 7-9 deficiency 42642
fever
2229 Malouf syndrome 79324 Mannosyltransferase 8 deficiency 561 Marshall-Smith syndrome
99090 Malposition of the coronary ostium 2459 Mansonelliasis 908 Martin-Bell syndrome
→293843 Malpuech facial clefting syndrome 2459 Mansonellosis 85321 Martin-Probst syndrome
→293843 Malpuech syndrome 52416 Mantle cell lymphoma →293864 Martínez-Frías syndrome
Malpuech-Michels-Mingarelli- 52416 Mantle zone lymphoma Martinique crinkled retinal pigment
293843
Carnevale syndrome 98956 Map-dot-fingerprint dystrophy 466718
epitheliopathy
293208 MALS 511 Maple syrup urine disease 1387 Martsolf syndrome
52417 MALT lymphoma →2712 Marashi-Gorlin syndrome 2466 MASA syndrome
103907 Maltase-glucoamylase deficiency 2785 Marble brain disease →284963 MASS syndrome
52417 MALToma 228157 Marburg acute multiple sclerosis 66661 Mast cell sarcoma
180275 Mammary Paget disease 99826 Marburg hemorrhagic fever 101001 Mast syndrome
ORPHA ORPHA ORPHA
Mastocytosis-short stature-hearing 600 MATR3-related distal myopathy 2473 McKusick-Kaufman syndrome
2135
loss syndrome 2470 Matthew-Wood syndrome 52416 MCL
3282 MAT Maturity-onset diabetes of the McLeod neuroacanthocytosis
552 59306
168598 MAT deficiency young syndrome
168598 MAT I/III deficiency 293603 Maumenee corneal dystrophy 60040 MCM
275944 Maternal anti-Kell alloimmunization Maxillary arteriovenous 60040 MCMTC
141171
254528 Maternal del(14)(q32.2) malformation 77298 MCOPS3
2209 Maternal hyperphenylalaninemia 1248 Maxillonasal dysostosis 85275 MCOPS4
Maternal hyperthermia-induced 1248 Maxillonasal dysplasia 178364 MCOPS5
2216
birth defects →182050 May-Hegglin anomaly 139471 MCOPS6
254528 Maternal monosomy 14q32.2 →182050 May-Hegglin syndrome 2556 MCOPS7
2209 Maternal phenylketonuria →182050 May-Hegglin thrombocytopenia 3434 MCOPS8
2209 Maternal PKU Mayer-Rokitansky-Küster-Hauser 2470 MCOPS9
3109
411712 Maternal riboflavin deficiency syndrome 77299 MCOPS10
Maternal uniparental disomy of Mayer-Rokitansky-Küster-Hauser 2512 MCPH
251009 247775
chromosome 1 syndrome type 1 2001 McPherson-Clemens syndrome
Maternal uniparental disomy of Mayer-Rokitansky-Küster-Hauser 2999 McPherson-Hall syndrome
96179 2578
chromosome 2 syndrome type 2 319287 MCRCC
Maternal uniparental disomy of 57782 Mazabraud syndrome
96180 466718 MCRPE
chromosome 4 221074 MBD
59 MCT8 deficiency
Maternal uniparental disomy of 251858 MBEN
809 MCTD
96181
chromosome 6 91138 MC
523 MCUL
Maternal uniparental disomy of 71529 MC4R deficiency
96183 565 MD
chromosome 9 93554 MC type II
273 MD1
Maternal uniparental disomy of 93555 MC type III
97678 258 MDC1A
chromosome 13 42 MCAD deficiency 98893 MDC1B
Maternal uniparental disomy of 42 MCADD
96185 →370953 MDC1C
chromosome 16 300496 MCAHS type 2
Maternal uniparental disomy of →370953 MDC1D
96186 369837 MCAHS type 3
chromosome 20 210272 MdD
→56304 McAlister-Crane syndrome
Maternal uniparental disomy of 210272 MdDS
96187 60040 MCAP
chromosome 21 1836 MDK
368 McArdle disease
Maternal uniparental disomy of 238744 MDN syndrome
96188 79140 MCC
chromosome 22 363649 MDP syndrome
6 MCC deficiency
Maternal uniparental disomy of 363649 MDPL syndrome
261519 85195 McCabe disease
chromosome X 3097 Meacham syndrome
96186 Maternal UPD(20) 6 MCCD 3097 Meacham-Winn-Culler syndrome
Maternally-inherited 562 McCune-Albright syndrome 435438 MEAK
1349 93686 MCD
cardiomyopathy and deafness MEB disease with bilateral
98969 MCD 370997
Maternally-inherited chronic multicystic leucodystrophy
663 progressive external 1851 MCDK 588 MEB syndrome
ophthalmoplegia 2471 McDonough syndrome 98954 MECD
663 Maternally-inherited CPEO →357225 McDowall syndrome 564 Meckel syndrome
Maternally-inherited diabetes and 75327 MCDR1 3032 Meckel syndrome type 7
225
deafness 319640 MCDR2 564 Meckel-Gruber syndrome
Maternally-inherited infantile 1035 MCDU 3032 Meckel-like syndrome type 1
255210 subacute necrotizing McDuffie hypocomplementemic
36412 70588 Meconium aspiration syndrome
encephalopathy urticarial vasculitis Meconium ileus due to guanylate
255210 Maternally-inherited Leigh disease 36412 McDuffie syndrome 314376
cyclase 2C deficiency
Maternally-inherited mitochondrial 2953 MCEDS
254851 →1762 MECP2 duplication syndrome
dystonia 308425 MCEE deficiency 93308 MED1
Maternally-inherited spastic 158668 McGrath syndrome
320360 93307 MED4
paraplegia 34149 MCKD 93311 MED5
320360 Maternally-inherited SPG 88949 MCKD1 98838 Med-DLBCL
2015 Mathieu-De Broca-Bony syndrome 88950 MCKD2 3453 MEDAC syndrome
ORPHA ORPHA ORPHA
2476 Medeira-Dennis-Donnai syndrome 2478 Megalencephalic leukodystrophy 1879 Melorheostosis with osteopoikilosis
Medial condensing osteitis of the Megalencephalic Membranoproliferative
57196 93571
clavicle 2478 leukoencephalopathy with glomerulonephritis type 2
293208 Median arcuate ligament syndrome subcortical cysts 652 MEN1
2006 Median cleft lip/mandibule 2477 Megalencephaly 653 MEN2
2006 Median cleft lower facial stage Megalencephaly-capillary 247698 MEN2A
60040
Median cleft of the upper lip and malformation syndrome 247709 MEN2B
141239
maxilla Megalencephaly-capillary 276152 MEN4
Median cleft of the upper lip-corpus 60040 malformation-polymicrogyria 401973 MEND syndrome
1993 callosum lipoma-cutaneous polyps syndrome Mendelian susceptibility to
syndrome Megalencephaly-cutis marmorata 319552 interleukin 12 receptor beta 1
60040
2699 Median nodule of the upper lip telangiectatica congenita syndrome deficiency
Mediastinal diffuse large-cell Megalencephaly-cystic Mendelian susceptibility to
98838 2478
lymphoma with sclerosis leukodystrophy syndrome 99898 mycobacterial diseases due to
63999 Mediastinal fibrosis Megalencephaly-polymicrogyria- complete IFNgammaR1 deficiency
370127 Medich giant platelet syndrome 83473 postaxial polydactyly-hydrocephalus Mendelian susceptibility to
370127 Medich macrothrombocytopenia syndrome 319547 mycobacterial diseases due to
231 Medina worm disease Megalencephaly-severe complete IFNgammaR2 deficiency
457359 kyphoscoliosis-overgrowth Mendelian susceptibility to
231 Medinensis
syndrome 319558 mycobacterial diseases due to
231214 Mediterranean anemia
Megalocornea-intellectual disability complete IL12B deficiency
100025 Mediterranean lymphoma 2479
syndrome Mendelian susceptibility to
Mediterranean Megalocornea-spherophakia-
→2882 319552 mycobacterial diseases due to
macrothrombocytopenia 238763
secondary glaucoma syndrome complete IL12RB1 deficiency
83313 Mediterranean spotted fever 50815 Mégarbané-Loiselet syndrome Mendelian susceptibility to
Medium chain acyl-CoA 238637 Megaureter-megacystis syndrome
42 mycobacterial diseases due to
dehydrogenase deficiency 99898
352328 MEGDEL syndrome complete interferon gamma
Medium chain acyl-coenzyme A receptor 1 deficiency
42 3038 Mehes syndrome
85282 MEHMO syndrome Mendelian susceptibility to
171851 MEDNIK syndrome
2196 Meier-Blumberg-Imahorn syndrome mycobacterial diseases due to
Medullary cystic kidney disease 319547
88949 2554 Meier-Gorlin syndrome complete interferon gamma
type 1 receptor 2 deficiency
29073 Medullary plasmacytoma
90186 Meige disease
93964 Meige dystonia Mendelian susceptibility to
1309 Medullary sponge kidney 319558 mycobacterial diseases due to
90186 Meige lymphedema
1332 Medullary thyroid carcinoma complete interleukin 12B deficiency
93964 Meige syndrome
616 Medulloblastoma Mendelian susceptibility to
Medulloblastoma with extensive
→90186 Meige-like disease 319563 mycobacterial diseases due to
251858 314451 Meigs syndrome
nodularity complete ISG15 deficiency
Medulloepithelioma of the central 98868 Melanesian elliptocytosis Mendelian susceptibility to
251883 98868 Melanesian ovalocytosis
nervous system mycobacterial diseases due to
319600
98954 Meesmann corneal dystrophy Melanoma and neural system tumor partial interferon regulatory factor 8
252206
97252 Mega-cisterna magna syndrome deficiency
66629 Megacolon-microcephaly syndrome 97338 Melanoma of soft tissue Mendelian susceptibility to
252206 Melanoma-astrocytoma syndrome 319600 mycobacterial diseases due to
Megaconial congenital muscular
280671 Melanoma-pancreatic cancer partial IRF8 deficiency
dystrophy 404560
238637 Megacystis-megaureter syndrome syndrome Mendelian susceptibility to
Megacystis-microcolon-intestinal 79146 Melanosis diffusa congenita mycobacterial diseases due to
2241 79146 Melanosis universalis hereditaria 319595 partial signal transducer and
hypoperistalsis syndrome
550 MELAS activator of transcription 1
Megacystis-microcolon-intestinal
87503 Meleda disease deficiency
2241 hypoperistalsis-hydronephrosis
syndrome 2482 Melhem-Fahl syndrome Mendelian susceptibility to
319595 mycobacterial diseases due to
2604 Megaduodenum and/or megacystis 31202 Melioidosis
partial STAT1 deficiency
Megakaryoblastic acute myeloid 2483 Melkersson-Rosenthal syndrome
402023 2494 Ménétrier disease
leukemia with t(1;22)(p13;q13) 2484 Melnick-Needles osteodysplasty
3216 Mengel-Konigsmark syndrome
Megakaryoblastic AML with 2484 Melnick-Needles syndrome
402023 252046 Meningeal melanocytoma
t(1;22)(p13;q13) 2485 Melorheostosis
ORPHA ORPHA ORPHA
2495 Meningioma 2631 Mesomelic dysplasia, Reardon type Methylcobalamin deficiency type
308380
→823 Meningocele Mesomelic dysplasia, Savarirayan cblDv1
85170
33475 Meningococcal meningitis type Methylcobalamin deficiency type
2169
565 Menkes disease 1836 Mesomelic dysplasia, Thai type cblE
565 Menkes syndrome Metabolic myopathy due to lactate Methylcobalamin deficiency type
171690 2170
Menstrual cycle-dependent febrile transporter defect cblG
498251 Methylene tetrahydrofolate
episode 2499 Metachondromatosis 395
Menstrual cycle-dependent periodic 512 Metachromatic leukodystrophy reductase deficiency
498251 Methylmalonic acidemia due to
fever Metachromatic leukodystrophy,
309271 308425 methylmalonyl-CoA epimerase
Mental retardation-truncal obesity- adult form
75858 retinal dystrophy-micropenis Metachromatic leukodystrophy, deficiency
309263 Methylmalonic acidemia due to
syndrome juvenile form
508093 MEPAN syndrome Metachromatic leukodystrophy, late 308425 methylmalonyl-CoA racemase
309256 deficiency
330021 Mercurialism infantile form
330021 Mercury intoxication 1240 Metaphyseal acroscyphodysplasia Methylmalonic acidemia with
26
1040 Metaphyseal anadysplasia homocystinuria
330021 Mercury poisoning
Metaphyseal chondrodysplasia, Methylmalonic acidemia with
79140 Merkel cell carcinoma 79284
33067 homocystinuria type cblF
Merosin-negative congenital Jansen type
258
muscular dystrophy 166038
79282
Kaitila type homocystinuria, type cblC
551 MERRF
Mesangiocapillary 79283
54370 175 homocystinuria, type cblD
glomerulonephritis McKusick type
386 Mesenchymal hamartoma of liver 369955
174 homocystinuria, type cblJ
238593 Mesenteric lipogranuloma Schmid type
238593 Mesenteric panniculitis 369962
2501 homocystinuria, type cblX
Mesial temporal lobe epilepsy with Spahr type
99701 Metaphyseal chondromatosis with Methylmalonic acidemia, TCb1R
hippocampal sclerosis 280183
99646 type
295004 Mesoaxial polydactyly D-2-hydroxyglutaric aciduria
Metaphyseal dysostosis-intellectual Methylmalonic acidemia, TCbIR
Mesoaxial synostotic syndactyly 280183
157801 2502 disability-conductive deafness type
with phalangeal reduction Methylmalonic aciduria due to
syndrome
95443 Mesocardia 308425 methylmalonyl-CoA epimerase
Metaphyseal dysplasia without
289 Mesodermic dysplasia →175 deficiency
hypotrichosis
2496 Mesomelia-synostoses syndrome Methylmalonic aciduria due to
Metaphyseal dysplasia, Braun-
Mesomelia-synostoses syndrome, 85188 308425 methylmalonyl-CoA racemase
2496 Tinschert type
Verloes-David-Pfeiffer type deficiency
3005 Metaphyseal dysplasia, Pyle type
2632 Mesomelic dwarfism, Langer type Methylmalonic aciduria due to
Metaphyseal dysplasia-maxillary 280183
Mesomelic dwarfism, Nievergelt 2504 transcobalamin receptor defect
2633 hypoplasia-brachydacty syndrome
type Methylmalonic aciduria with
213531 Metaplastic carcinoma of the breast 26
Mesomelic dwarfism, Reinhardt- homocystinuria
2634 2635 Metatropic dwarfism
Pfeiffer type Methylmalonic aciduria with
2635 Metatropic dysplasia 79282
Mesomelic dwarfism-cleft palate- homocystinuria, type cblC
2631 88639 Methacrylic aciduria
camptodactyly syndrome Methylmalonic aciduria with
31825 Methanol poisoning 79283
Mesomelic dwarfism-small genitalia homocystinuria, type cblD
97360 1923 Methimazole embryofetopathy
syndrome Methylmalonic aciduria with
Methimazole/carbimazole 79284
Mesomelic dysplasia with absent 1923 homocystinuria, type cblF
85170 embryofetopathy
fibulas and triangular tibias Methylmalonic aciduria with
Methimazole/carbimazole 369955
Mesomelic dysplasia with acral 1923 homocystinuria, type cblJ
2496 synostoses, Verloes-David-Pfeiffer embryopathy Methylmalonic aciduria with
Methionine adenosyltransferase 369962
type 168598 homocystinuria, type cblX
Mesomelic dysplasia, Kantaputra deficiency Methylmalonyl-CoA mutase
1836 Methotrexate-associated 27
type 86904 deficiency
Mesomelic dysplasia, Kozlowski- lymphoproliferative disorders Methylmalonyl-Coenzyme A mutase
2631 1917 Methyl mercury antenatal infection 27
Reardon type deficiency
Mesomelic dysplasia, Nievergelt 622 Methylcobalamin deficiency Metopic ridging-ptosis-facial
2633 502430
type dysmorphism syndrome
ORPHA ORPHA ORPHA
29 Mevalonic aciduria Microcephalic primordial dwarfism, Microcephaly-digital anomalies-
2617 →313795
2710 Meyer-Schwickerath syndrome Montreal type intellectual disability syndrome
443995 MFDA Microcephalic primordial dwarfism, Microcephaly-digital anomalies-
2643 1305
79113 MFDM syndrome Toriello type normal intelligence syndrome
MFF-related encephalopathy due to Microcephalic primordial dwarfism, Microcephaly-digital anomalies-
329228 391641
485421 mitochondrial and peroxisomal Walsh type normal intelligence syndrome type 1
fission defect Microcephalic primordial dwarfism- Microcephaly-digital anomalies-
436182 391646
178464 MFM-titinopathy insulin resistance syndrome normal intelligence syndrome type 2
558 MFS Microcephaly and chromosomal Microcephaly-facial dysmorphism-
284963 MFS1 240760 instability without 521445 ocular anomalies-multiple
284973 MFS2 immunodeficiency congenital anomalies syndrome
2512 Microcephaly vera Microcephaly-facio-cardio-skeletal
67046 MGA1 217026
Microcephaly-albinism-digital syndrome, Hadziselimovic type
111 MGA2 2513
anomalies syndrome Microcephaly-faciocardioskeletal
67047 MGA3 217026
Microcephaly-brachydactyly- syndrome
67048 MGA4 3433
kyphoscoliosis syndrome Microcephaly-glomerulonephritis-
66634 MGA5 2172
Microcephaly-brain defect- marfanoid habitus syndrome
445038 MGA7 2523
spasticity-hypernatremia syndrome Microcephaly-hiatus hernia-
505208 MGA8 2065
Microcephaly-capillary nephrotic syndrome
505216 MGA9 294016
malformation syndrome Microcephaly-hypergonadotropic
79329 MGAT2-CDG Microcephaly-cardiac defect-lung 2558 hypogonadism-short stature
→182050 MHA 2516
malsegmentation syndrome syndrome
443162 MHAC Microcephaly-cardiomyopathy Microcephaly-
2515
391417 MHBD deficiency syndrome 3132 hypogammaglobulinemia-abnormal
391428 MHBD deficiency, classic type Microcephaly-cerebellar hypoplasia- immunity syndrome
329332
391428 MHBD deficiency, infantile type cardiac conduction defect syndrome Microcephaly-immunodeficiency-
647
391457 MHBD deficiency, neonatal type Microcephaly-cerebellar hypoplasia- lymphoreticuloma syndrome
572 MHC class II expression deficiency 329332 congenital heart conduction defect Microcephaly-intellectual disability-
99826 MHF syndrome →3255 phalangeal and neurological
386 MHL Microcephaly-cerebral anomalies syndrome
79651 mHPA 434179 malformation-orofaciodigital Microcephaly-intellectual disability-
syndrome 457351 sensorineural deafness-epilepsy-
294016 MIC-CAP syndrome
Microcephaly-cervical spine fusion abnormal muscle tone syndrome
294016 MIC-CM syndrome 2522
anomalies syndrome Microcephaly-intellectual disability-
→293843 Michels syndrome
Microcephaly-cleft palate-abnormal 457351 sensorineural hearing loss-epilepsy-
163937 MICPCH 2521 abnormal muscle tone syndrome
retinal pigmentation syndrome
2510 Micro syndrome Microcephaly-intellectual disability-
Microcephaly-complex motor and 1305
Microbrachycephaly-ptosis-cleft lip 423894 sensory axonal neuropathy tracheoesophageal fistula syndrome
2511
syndrome syndrome Microcephaly-intellectual disability-
2512 Microcephalia vera Microcephaly-congenital cataract- 391641 tracheoesophageal fistula syndrome
Microcephalic osteodysplastic 488168 type 1
85172 psoriasiform dermatitis syndrome
dysplasia, Saul-Wilson type Microcephaly-corpus callosum Microcephaly-intellectual disability-
Microcephalic osteodysplastic 2508 agenesis-abnormal genitalia 391646 tracheoesophageal fistula syndrome
2637
primordial dwarfism type II syndrome type 2
Microcephalic osteodysplastic Microcephaly-corpus callosum and Microcephaly-intracranial
2636
primordial dwarfism types I and III cerebellar vermis hypoplasia-facial 1229 calcification-intellectual disability
Microcephalic osteodysplastic 500159 syndrome
dysmorphism-intellectual disability
2636 primordial dwarfism, Taybi-Linder syndrom Microcephaly-lymphedema-
2526
type Microcephaly-corpus callosum chorioretinopathy syndrome
Microcephalic primordial dwarfism 457284 hypoplasia-intellectual disability- Microcephaly-microcornea
468631 2528
due to RTTN deficiency facial dysmorphism syndrome syndrome, Seemanova type
Microcephalic primordial dwarfism Microcephaly-cutaneous capillary Microcephaly-microphthalmia-
329228 294016
due to ZNF335 deficiency malformation syndrome 3434 ectrodactyly of lower limbs-
Microcephalic primordial dwarfism, Microcephaly-deafness-intellectual prognathism syndrome
319671 2533
Alazami type disability syndrome Microcephaly-oculo-digito-
Microcephalic primordial dwarfism, 1305 esophageal-duodenal syndrome
319675
Dauber type syndrome
ORPHA ORPHA ORPHA
Microcephaly-oculo-digito- Microphthalmia with colobomatous 95443 Midline heart
98938
391641 esophageal-duodenal syndrome cyst Midline interhemispheric variant of
93926
syndrome type 1 1104 Microphthalmia with facial clefting holoprosencephaly
Microcephaly-polymicrogyria- Microphthalmia with limb 2557 Mietens syndrome
171703 1106
corpus callosum agenesis syndrome anomalies Mievis-Verellen-Dumoulin
2867
Microcephaly-seizures-intellectual Microphthalmia with linear skin syndrome
2519 2556
disability-heart disease syndrome defects syndrome 293181 Migrating partial epilepsy of infancy
Microcephaly-short stature- 568 Microphthalmia, Lenz type 293181 Migrating partial seizures of infancy
423306 intellectual disability-facial Microphthalmia-ankyloblepharon- 504
85275 Migratory myiasis
dysmorphism syndrome intellectual disability syndrome 93926 MIH
Microcephaly-thin corpus callosum- Microphthalmia-anophthalmia- 93926 MIH type HPE
397951 98938
intellectual disability syndrome coloboma syndrome 93926 MIHF
Microcoria-congenital nephrosis Microphthalmia-brain atrophy
2670 77299 93926 MIHV
syndrome syndrome 2558 Mikati-Najjar-Sahli syndrome
Microcornea-corectopia-macular Microphthalmia-coloboma-
2535 424099 79078 Mikulicz disease
hypoplasia syndrome rhizomelic skeletal dysplasia
314918 Mild Canavan disease
Microcornea-glaucoma-absent Microphthalmia-dermal aplasia-
2536 2556 169799 Mild factor IX deficiency
frontal sinuses syndrome sclerocornea syndrome
Microcornea-myopic chorioretinal 169808 Mild factor VIII deficiency
369970 Microphthalmia-intellectual
atrophy-telecanthus syndrome →2510 169808 Mild hemophilia A
disability syndrome
Microcornea-posterior 169799 Mild hemophilia B
Microphthalmia-microtia-fetal
231736 megalolenticonus-persistent fetal 2547 79651 Mild HPA
akinesia syndrome
vasculature-coloboma syndrome Microphthalmia-optic nerve aplasia 79651 Mild hyperphenylalaninemia
2705
Microcornea-rod-cone dystrophy- syndrome 171439 Mild nemaline myopathy
263347 cataract-posterior staphyloma 216796 Mild osteogenesis imperfecta
Microphthalmia-retinitis
syndrome 251279 pigmentosa-foveoschisis-optic disc Mild peroxismal disorder due to
247815
Microcystic infiltrating lymphatic drusen syndrome PEX10 deficiency
79490
malformation 727 Micropolyangiitis 79253 Mild phenylketonuria
79490 Microcystic lymphangioma 727 Microscopic polyangiitis Mild phosphoribosylpyrophosphate
411536
79490 Microcystic lymphatic malformation 727 Microscopic polyarteritis synthetase superactivity
Microcytic anemia with liver iron Microspherophakia-metaphyseal 79253 Mild PKU
83642 2551
overload dysplasia syndrome 411536 Mild PRPP synthetase superactivity
77301 Microdeletion 9q22.3 2552 Microsporidiosis 411536 Mild PRPS1 superactivity
567 Microdeletion 22q11.2 83463 Mild spondyloepiphyseal dysplasia
Microtia
Microdontia-type I microtia- 2306 Microtia-aortic arch syndrome 93279 due to COL2A1 mutation with early-
90024
deafness syndrome Microtia-eye coloboma- onset osteoarthritis
101081 Microduplication 17p12 139450 246 Miller syndrome
imperforation of the nasolacrimal
Microduplication Xp11.22p11.23 duct syndrome 531 Miller-Dieker syndrome
217377
syndrome 289522 Microtriplication 11q24.1 98919 Miller-Fisher syndrome
280200 Microform holoprosencephaly 2290 94091 Mills syndrome
Microvillous inclusion disease
280200 Microform HPE 2290 Microvillus inclusion disease 79452 Milroy disease
Microgastria-limb reduction defect 166430 Micturation-induced seizures →79452 Milroy-like disease
2538
syndrome 1456 Mid-aortic dysplastic syndrome 255210 MILS
1388 Micrognathia digital syndrome 1917 Minamata disease
1456 Mid-aortic syndrome
Micrognathia-recurrent infections- 228299 Mid-dermal elastolysis 457485 MINDS syndrome
476126 behavioral abnormalities-mild
1456 Midaortic syndrome 506112 MiNEN of pancreas
2556 MIDAS syndrome Mineralocorticoid resistant
1083 Microlissencephaly 757
225 MIDD hyperkalemia
89844 Microlissencephaly type A
1456 Middle aortic syndrome →293843 Mingarelli syndrome
Microlissencephaly-micromelia Minimal pigment oculocutaneous
50810 100084 Middle ear neuroendocrine tumor
syndrome 352734
Middle interhemispheric fusion albinism type 1
Micromelic dysplasia-dislocation of 93926 Minimally differentiated acute
93329 variant
radius syndrome 98832
Middle interhemispheric variant of myeloblastic leukemia
Microphthalmia with brain and digit 93926 822 Minkowski-Chauffard disease
139471 holoprosencephaly
anomalies
141288 Midline cervical cleft 1918 Minoxidil antenatal infection
ORPHA ORPHA ORPHA
494433 MIRAGE syndrome Mitochondrial encephalo-cardio- Mitochondrial myopathy-cerebellar
94125 MIRAS 1194 myopathy due to isolated ATP 502423 ataxia-pigmentary retinopathy
Mirhosseini-Holmes-Walton synthase deficiency syndrome
→193
syndrome Mitochondrial encephalo-cardio- Mitochondrial myopathy-cerebellar
521219 Mirizzi syndrome myopathy due to isolated 502423 atrophy-pigmentary retinopathy
1194
Mirror hands and feets-nasal mitochondrial respiratory chain syndrome
2378 complex V deficiency Mitochondrial myopathy-lactic
defects syndrome 2597
Mirror polydactyly-vertebral Mitochondrial encephalomyopathy acidosis-deafness syndrome
3004 segmentation-limbs defects 238329 due to combined oxidative Mitochondrial myopathy-lactic
2597
syndrome phosphorylation defect 6 acidosis-hearing loss syndrome
498494 Mirror-image polydactyly Mitochondrial encephalomyopathy Mitochondrial neurogastrointestinal
238329 298
MiT family translocation renal cell due to COXPD6 encephalomyopathy
319308 Mitochondrial encephalomyopathy, Mitochondrial non-syndromic
carcinoma 90641
550 lactic acidosis and stroke-like neurosensory deafness
MITF-related melanoma and renal
293822 cell carcinoma predisposition episodes Mitochondrial non-syndromic
syndrome Mitochondrial encephalomyopathy- neurosensory deafness with
1933 168609
Mitochondrial acetoacetyl- aminoacidopathy syndrome susceptibility to aminoglycoside
134 Mitochondrial enoyl CoA reductase exposure
coenzyme A thiolase deficiency
508093 protein-associated Mitochondrial non-syndromic
Mitochondrial aspartate-glutamate
353217 neurodegeneration syndrome neurosensory hearing loss with
carrier 1 deficiency 168609
225 Mitochondrial diabetes Mitochondrial HSP60 susceptibility to aminoglycoside
280288
chaperonopathy exposure
Mitochondrial DNA deletion
352470 Mitochondrial hypertrophic Mitochondrial non-syndromic
syndrome with limb-girdle weakness 90641
314637 cardiomyopathy with lactic acidosis sensorineural deafness
Mitochondrial DNA deletion
due to MTO1 deficiency Mitochondrial non-syndromic
352470 syndrome with progressive
myopathy Mitochondrial isolated sensorineural deafness with
168609
neurosensory deafness with susceptibility to aminoglycoside
Mitochondrial DNA depletion 168609
susceptibility to aminoglycoside exposure
1933 syndrome, encephalomyopathic
exposure Mitochondrial non-syndromic
form with methylmalonic aciduria
Mitochondrial isolated sensorineural hearing loss with
neurosensory hearing loss with susceptibility to aminoglycoside
255235 syndrome, encephalomyopathic 168609
susceptibility to aminoglycoside exposure
form with renal tubulopathy
exposure Mitochondrial pyruvate carrier
Mitochondrial isolated deficiency
syndrome, encephalomyopathic
369897 sensorineural deafness with Mitochondrial spinocerebellar
form with variable craniofacial 168609 254881
susceptibility to aminoglycoside ataxia with epilepsy
anomalies
exposure Mitochondrial trifunctional protein
Mitochondrial isolated deficiency
279934 syndrome, hepatocerebral form due
sensorineural hearing loss with 1205 Mitral atresia
to DGUOK deficiency 168609
susceptibility to aminoglycoside Mitral regurgitation-deafness-
Mitochondrial DNA depletion exposure 3238
syndrome, hepatocerebrorenal form
Mitochondrial membrane protein- 99062 Mitral valve agenesis
254875 associated neurodegeneration Mitral valve-aorta-skeleton-skin
syndrome, myopathic form →284963
Mitochondrial myopathy and syndrome
Mitochondrial DNA maintenance 2598
352447 sideroblastic anemia 295012 Mitten hand
syndrome due to MGME1 deficiency
Mitochondrial myopathy with 90036 Mixed AIHA
Mitochondrial DNA-associated Leigh 254864
255210 reversible complex IV deficiency
syndrome 809 Mixed connective tissue disease
Mitochondrial myopathy with
Mitochondrial DNA-related 254864 91138 Mixed cryoglobulinemia
1349 reversible COX deficiency
cardiomyopathy and hearing loss 93555 Mixed cryoglobulinemia type III
Mitochondrial myopathy with
254851 Mitochondrial DNA-related dystonia 458792 Mixed cystic lymphangioma
254864 reversible cytochrome C oxidase
Mitochondrial DNA-related deficiency Mixed cystic lymphatic
458792
663 progressive external Mitochondrial myopathy, malformation
ophthalmoplegia 550 encephalopathy, lactic acidosis and 180234 Mixed germ cell tumor
Mitochondrial encephalo-cardio- stroke-like episodes Mixed germ cell tumor of central
252021
1194 myopathy due to F1Fo ATPase nervous system
deficiency 252021 Mixed germ cell tumor of CNS
ORPHA ORPHA ORPHA
Mixed Müllerian cancer of corpus 1305 MMT Monocyte-B-natural killer-dendritic
213610 228423
uteri 391641 MMT type 1 cell deficiency syndrome
Mixed neuroendocrine- 391646 MMT type 2 Monocytopenia and mycobacterial
228423
506112 nonneuroendocrine neoplasm of 298 MNGIE infection syndrome
pancreas 565 MNK Monocytopenia with susceptibility
228423
251656 Mixed oligoastrocytoma 251656 MOA to infections
2785 Mixed renal tubular acidosis 77299 99885 Monogenic diabetes of infancy
MOBA syndrome
2785 Mixed RTA 570 Möbius syndrome 228423 MonoMAC
1879 Mixed sclerosing bone dystrophy 99732 MOCOD 65684 Monomelic amyotrophy
Mixed sclerosing bone dystrophy 308386 MOCOD type A 86870 Monomorphic NK-cell lymphoma
324364
with extra-skeletal manifestations 308393 MOCOD type B 2565 Mononen-Karnes-Senac syndrome
Mixed-type autoimmune hemolytic 308400 MOCOD type C Mononeuritis multiplex with
90036 2901
anemia brachial predilection
1305 MODED syndrome
399096 Miyoshi muscular dystrophy type 3 293948 Monosomy 1p21.3
391641 MODED syndrome type 1
45448 Miyoshi myopathy 401986 Monosomy 1p31p32
Moderate and severe traumatic
98757 MJD 90056 456298 Monosomy 1p35.2
brain injury
565 MK 1606 Monosomy 1p36
Moderate multiminicore disease
423461 ML 3 alpha/beta 178145 1606 Monosomy 1pter
with hand involvement
423470 ML 3 gamma Moderately severe factor IX 250989 Monosomy 1q21.1
423461 ML III alpha/beta 169796
deficiency 250999 Monosomy 1q41q42
423470 ML III gamma Moderately severe factor VIII 238769 Monosomy 1q44
169805
2598 MLASA deficiency 36367 Monosomy 1qter
2478 MLC 169805 Moderately severe hemophilia A 261349 Monosomy 2p15p16.1
2526 MLCRD 169796 Moderately severe hemophilia B 163693 Monosomy 2p21
512 MLD Moderately-differentiated thymic 228402 Monosomy 2q23.1
263335
309271 MLD, adult form neuroendocrine carcinoma 1617 Monosomy 2q24
309263 MLD, juvenile form 552 MODY 251014 Monosomy 2q31.1
309256 MLD, late infantile form 93111 MODY5 251019 Monosomy 2q32
59306 MLS 570 Moebius syndrome 251019 Monosomy 2q32q33
2556 MLS syndrome Moebius syndrome-axonal 251028 Monosomy 2q33.1
464321 MLT 2560 neuropathy-hypogonadotropic 1001 Monosomy 2q37qter
369970 MMCAT syndrome hypogonadism syndrome 435638 Monosomy 3p25.3
598 MmD 3198 Moersch-Woltman syndrome 1620 Monosomy 3pter
399096 MMD3 2549 Moeschler-Clarren syndrome 1621 Monosomy 3q13
MME-related autosomal dominant 79330 MOGS-CDG 356947 Monosomy 3q26q27
497757
Charcot Marie Tooth disease type 2 2751 Mohr syndrome 65286 Monosomy 3q29
MME-related autosomal dominant 2753 Mohr-Majewski syndrome 65286 Monosomy 3qter
497757
CMT2 52368 Mohr-Tranebjaerg syndrome 238750 Monosomy 4q21
MME-related autosomal dominant 99927 Molar pregnancy 96145 Monosomy 4qter
497757 hereditary motor and sensory 1433 Moloney syndrome 281 Monosomy 5p
neuropathy type 2 397973 MOMES syndrome 228384 Monosomy 5q14.3
3434 MMEP syndrome 2563 MOMO syndrome 314655 Monosomy 5q31.3
592 MMF 371428 MONA spectrum 1627 Monosomy 5q35
268249 MMF embryopathy 573 Monilethrix 251046 Monosomy 6p22
1923 MMI/CMZ embryofetopathy 573 Moniliform hair syndrome 96125 Monosomy 6p25
1923 MMI/CMZ embryopathy 319254 Monkey disease 171829 Monosomy 6q16
2241 MMIHS 319254 Monkey fever 251056 Monosomy 6q25
213512 MMMT of the ovary 3057 Monoamine oxidase A deficiency 96126 Monosomy 7pter
641 MMN Monocarboxylate transporter 8
59 904 Monosomy 7q11.23
641 MMNCB deficiency 251061 Monosomy 7q31
137867 MMND Monoclonal mast cell activation
529468 1636 Monosomy 7qter
293181 MMPEI syndrome
251066 Monosomy 8p11.2
293181 MMPSI 529468 Monoclonal MCAD
251071 Monosomy 8p23.1
2479 MMR syndrome
2496 Monosomy 8q13
ORPHA ORPHA ORPHA
284160 Monosomy 8q21.11 313781 Monosomy 20p13 96060 Mosaic trisomy chromosome 5
178303 Monosomy 8q22.1 444051 Monosomy 20q11 1747 Mosaic trisomy chromosome 7
502 Monosomy 8q24.1 261311 Monosomy 20q13.33 96061 Mosaic trisomy chromosome 8
508488 Monosomy 8q24.3 96152 Monosomy 20qter 99776 Mosaic trisomy chromosome 9
261112 Monosomy 9p 574 Monosomy 21 96063 Mosaic trisomy chromosome 10
324313 Monosomy 9p13 261323 Monosomy 21q22.11q22.12 1698 Mosaic trisomy chromosome 12
1642 Monosomy 9pter 268261 Monosomy 21q22.13q22.2 1703 Mosaic trisomy chromosome 14
77301 Monosomy 9q22.3 96123 Monosomy 22 1706 Mosaic trisomy chromosome 15
401923 Monosomy 9q31.1q31.3 567 Monosomy 22q11 1708 Mosaic trisomy chromosome 16
495818 Monosomy 9q33.3q34.11 48652 Monosomy 22q13 1711 Mosaic trisomy chromosome 17
284169 Monosomy 10p11.21p12.31 99226 Monosomy X 1724 Mosaic trisomy chromosome 20
1580 Monosomy 10pter 93277 Monostotic fibrous dysplasia 96068 Mosaic trisomy chromosome 22
276413 Monosomy 10q22.3q23.3 158003 Montgomery syndrome Mosaic variegated aneuploidy
1052
96148 Monosomy 10qter →969 Moore-Federman syndrome syndrome
893 Monosomy 11p13 519408 Mooren ulcer 54057 Moschcowitz disease
444002 Monosomy 11q22.2q22.3 2637 MOPD type II 2717 MOTA syndrome
2308 Monosomy 11qter 2636 MOPD types I and III Mother-to-child transmission of
294
313884 Monosomy 12p12.1 141327 Moran-Barroso syndrome cytomegalovirus syndrome
94063 Monosomy 12q14 52056 Morava-Mehes syndrome Mother-to-child transmission of
292
289513 Monosomy 12q15q21.1 77296 Morgagni-Stewart-Morel syndrome enterovirus infection
96149 Monosomy 12qter 75858 MORM syndrome Mother-to-child transmission of
70596
412035 Monosomy 13q12.3 35737 Morning glory syndrome Epstein-Barr virus infection
1587 Monosomy 13q14 582 Morquio disease Mother-to-child transmission of
293
herpes simplex virus infection
1590 Monosomy 13q32 309297 Morquio disease type A
Mother-to-child transmission of
96168 Monosomy 13q34 309310 Morquio disease type B 295
parvovirus syndrome
261120 Monosomy 14q11.2 2570 Morse-Rawnsley-Sargent syndrome
Mother-to-child transmission of
261144 Monosomy 14q12 83467 Morvan syndrome 290
rubella syndrome
→3157 Monosomy 14q22 83467 Morvan's fibrillary chorea Mother-to-child transmission of
264200 Monosomy 14q22-q23 Mosaic genome-wide paternal 499009
329813 syphilis
264200 Monosomy 14q22q23 uniparental disomy Mother-to-child transmission of
401935 Monosomy 14q24.1q24.3 329813 Mosaic genome-wide paternal UPD 858
toxoplasmosis
261183 Monosomy 15q11.2 99228 Mosaic monosomy X Mother-to-child transmission of
Mosaic paternal uniparental disomy 291
199318 Monosomy 15q13.3 96193 varicella syndrome
261190 Monosomy 15q14 of chromosome 11 3347 Mounier-Kühn syndrome
94065 Monosomy 15q24 1692 Mosaic trisomy 1 83595 Mountain fever
1596 Monosomy 15q26 1723 Mosaic trisomy 2 83595 Mountain tick fever
261211 Monosomy 16p11.2p12.2 100071 Mosaic trisomy 3 2572 Mousa-Al Din-Al Nassar syndrome
261236 Monosomy 16p13.11 96059 Mosaic trisomy 4 Mouth and genital ulcers-inflamed
96060 Mosaic trisomy 5 324972
500055 Monosomy 16p13.2 cartilage syndrome
352629 Monosomy 16q24.1 1747 Mosaic trisomy 7 2152 Mowat-Wilson syndrome
261250 Monosomy 16q24.3 96061 Mosaic trisomy 8 Mowat-Wilson syndrome due to
261537
531 Monosomy 17p13.3 99776 Mosaic trisomy 9 2q22 microdeletion
97685 Monosomy 17q11 96063 Mosaic trisomy 10 Mowat-Wilson syndrome due to a
261552
261265 Monosomy 17q12 1698 Mosaic trisomy 12 ZEB2 point mutation
363958 Monosomy 17q21.31 1703 Mosaic trisomy 14 Mowat-Wilson syndrome due to
261537
261279 Monosomy 17q23.1q23.2 1706 Mosaic trisomy 15 del(2)q(22)
1597 Monosomy 17qter 1708 Mosaic trisomy 16 Mowat-Wilson syndrome due to
261537
1598 Monosomy 18p 1711 Mosaic trisomy 17 monosomy 2q22
1600 Monosomy 18q 1724 Mosaic trisomy 20 Moyamoya angiopathy-short
96068 Mosaic trisomy 22 stature-facial dysmorphism-
254346 Monosomy 19p13.12 280679
1692 Mosaic trisomy chromosome 1 hypergonadotropic hypogonadism
357001 Monosomy 19p13.13 syndrome
217346 Monosomy 19q13.11 1723 Mosaic trisomy chromosome 2
2573 Moyamoya disease
261295 Monosomy 20p12.3 100071 Mosaic trisomy chromosome 3
96059 Mosaic trisomy chromosome 4
ORPHA ORPHA ORPHA
Moyamoya disease with early-onset 79272 MPSIIID MSMD due to complete ISG15
401945 319563
achalasia 93474 MPSIS deficiency
Moyamoya disease-short stature- 582 MPSIV MSMD due to partial interferon
319600
280679 facial dysmorphism- 309297 MPSIVA regulatory factor 8 deficiency
hypergonadotropic hypogonadism 309310 MPSIVB 319600 MSMD due to partial IRF8 deficiency
2574 Moynahan syndrome 67041 MPSIX MSMD due to partial signal
352734 MP OCA type 1 583 319595 transducer and activator of
MPSVI
727 MPA 276212 MPSVI, rapidly progressing transcription 1 deficiency
289560 MPAN 276223 MPSVI, slowly progressing MSMD due to partial STAT1
319595
59135 MPD1 deficiency
584 MPSVII
399086 MPD3 MSN-related combined
99967 MRCLS 504530
79323 MPDU1-CDG immunodeficiency
263347 MRCS syndrome
293181 MPEI 157801 MSSD
67045 MRGH
54370 MPGN 65748 MSSE
3109 MRKH syndrome
79319 MPI-CDG 511 MSUD
247775 MRKH syndrome type 1
79253 mPKU MT-ATP6-related mitochondrial
2578 MRKH syndrome type 2 320360
3148 MPNST spastic paraplegia
→457240 MRX35
MPNST with
1332 MTC
85274 MRXS7
252212 rhabdomyosarcomatous 499009 MTCT of syphilis
85324 MRXS9
differentiation mtDNA deletion syndrome with
93952 MRXSH 352470
2587 MPO deficiency limb-girdle weakness
2598 MSA mtDNA deletion syndrome with
231736 MPPC syndrome 352470
102 MSA progressive myopathy
83473 MPPH syndrome
227510 MSA, cerebellar type mtDNA depletion syndrome,
579 MPS1
98933 MSA, parkinsonian type 1933 encephalomyopathic form with
93473 MPS1H
227510 MSA-c methylmalonic aciduria
93476 MPS1H/S
98933 MSA-p mtDNA depletion syndrome,
93474 MPS1S
1879 MSBD syndrome 255235 encephalomyopathic form with
580 MPS2 renal tubulopathy
254881 MSCAE
217085 MPS2A mtDNA depletion syndrome,
585 MSD
217093 MPS2B 369897 encephalomyopathic form with
2619 Mseleni joint disease
581 MPS3 variable craniofacial anomalies
480536 MSH3-related AFAP
79269 MPS3A mtDNA depletion syndrome,
MSH3-related attenuated familial 363534
79270 MPS3B 480536 hepatocerebrorenal form
adenomatous polyposis
79271 MPS3C mtDNA depletion syndrome,
MSH3-related attenuated familial 254875
79272 MPS3D 480536 myopathic form
polyposis coli
582 MPS4 480536 MSH3-related attenuated FAP mtDNA maintenance syndrome due
352447
309297 MPS4A to MGME1 deficiency
1309 MSK
309310 MPS4B 255210 mtDNA-associated Leigh syndrome
MSMD due to complete
583 MPS6 99898 mtDNA-related cardiomyopathy and
IFNgammaR1 deficiency 1349
276212 MPS6, rapidly progressing hearing loss
MSMD due to complete
319547 254851 mtDNA-related dystonia
276223 MPS6, slowly progressing IFNgammaR2 deficiency
584 MPS7 MSMD due to complete IL12B mtDNA-related progressive external
663
319558 ophthalmoplegia
67041 MPS9 deficiency
395 MTHFR deficiency
579 MPSI MSMD due to complete IL12RB1
319552 99701 MTLE-HS
293181 MPSI deficiency
252212 MTT
93473 MPSIH MSMD due to complete interferon
99898 MTX-associated lymphoproliferative
93476 MPSIH/S gamma receptor 1 deficiency 86904
MSMD due to complete interferon disorders
580 MPSII 319547
gamma receptor 2 deficiency 86904 MTX-LPD
217085 MPSIIA
MSMD due to complete interleukin 100024 mu-HCD
217093 MPSIIB 319552
12 receptor beta 1 deficiency 100024 Mu-heavy chain disease
581 MPSIII
MSMD due to complete interleukin MUC1-related autosomal dominant
79269 MPSIIIA 319558 88949
12B deficiency medullary cystic kidney disease
79270 MPSIIIB
MUC1-related autosomal dominant
79271 MPSIIIC 88949
tubulointerstitial kidney disease
ORPHA ORPHA ORPHA
88949 MUCI-related ADTKD Mucopolysaccharidosis type II, Multicentric carpo-tarsal osteolysis
217093 2774
398961 Mucinous adenocarcinoma of ovary attenuated form with or without nephropathy
Mucinous adenocarcinoma of the Mucopolysaccharidosis type II, 93686 Multicentric Castleman disease
391723 217085
appendix severe form Multicentric giant lymph node
93686
Mucinous cystadenocarcinoma of 217085 Mucopolysaccharidosis type IIA hyperplasia
424053
the pancreas 217093 Mucopolysaccharidosis type IIB Multicentric osteolysis-nodulosis-
371428
Mucinous cystadenoma of ovary in 581 Mucopolysaccharidosis type III arthropathy spectrum
206470
childhood 79269 Mucopolysaccharidosis type IIIA Multicentric osteolysis-nodulosis-
85196
Mucinous tubular and spindle cell 79270 Mucopolysaccharidosis type IIIB arthropathy syndrome
319322
renal carcinoma 79271 Mucopolysaccharidosis type IIIC 139436 Multicentric reticulohistiocytosis
575 Muckle-Wells syndrome 79272 Mucopolysaccharidosis type IIID 1851 Multicystic dysplastic kidney
Mucocutaneous lymph node 93474 Mucopolysaccharidosis type IS 168816 Multicystic mesothelioma
2331
syndrome 582 Mucopolysaccharidosis type IV 1851 Multicystic renal dysplasia
Mucocutaneous venous 309297 Mucopolysaccharidosis type IVA Multifocal acquired demyelinating
2451 48162
malformations 309310 Mucopolysaccharidosis type IVB sensory and motor neuropathy
423461 Mucolipidosis type 3 alpha/beta 3282 Multifocal atrial tachycardia
67041 Mucopolysaccharidosis type IX
423470 Mucolipidosis type 3 gamma 99873 Multifocal eosinophilic granuloma
583 Mucopolysaccharidosis type VI
576 Mucolipidosis type II Mucopolysaccharidosis type VI, Multifocal
576 Mucolipidosis type II alpha/beta 276212 464321 lymphangioendotheliomatosis with
rapidly progressing
577 Mucolipidosis type III Mucopolysaccharidosis type VI, thrombocytopenia
423461 276223 Multifocal
Mucolipidosis type III alpha/beta slowly progressing
423470 Mucolipidosis type III gamma 464321 lymphangioendotheliomatosis-
584 Mucopolysaccharidosis type VII
578 Mucolipidosis type IV thrombocytopenia syndrome
Mucopolysaccharidosis-like plus
505248 641 Multifocal motor neuropathy
579 Mucopolysaccharidosis type 1 disease
93473 Mucopolysaccharidosis type 1H Mucopolysaccharidosis-like Multifocal motor neuropathy with
641
93476 Mucopolysaccharidosis type 1H/S 505248 syndrome with congenital heart conduction block
93474 Mucopolysaccharidosis type 1S defects and hematopoietic disorders Multifocal muscular fibrosis-
2033
73263 Mucormycosis obstructed vessels syndrome
580 Mucopolysaccharidosis type 2
Mucosa-associated lymphatic tissue Multifocal pattern dystrophy
Mucopolysaccharidosis type 2, 52417
99003
217093 simulating fundus flavimaculatus
attenuated form lymphoma
Mucosa-associated lymphoid tissue Multifocal pattern dystrophy
Mucopolysaccharidosis type 2, 52417
99003
217085
lymphoma simulating Stargardt disease
severe form
46486 Mucosal pemphigoid Multifocal ventricular premature
217085 Mucopolysaccharidosis type 2A 3286
beats
217093 Mucopolysaccharidosis type 2B 585 Mucosulfatidosis
Multilocular clear cell
581 Mucopolysaccharidosis type 3 46486 Mucosynechial pemphigoid 319287
adenocarcinoma
79269 Mucopolysaccharidosis type 3A 46486 Mucous membrane pemphigoid
319287 Multilocular clear cell carcinoma
79270 Mucopolysaccharidosis type 3B 586 Mucoviscidosis
Multilocular clear cell renal cell
79271 Mucopolysaccharidosis type 3C 53271 Muenke syndrome 319287
adenocarcinoma
79272 Mucopolysaccharidosis type 3D 444 MUHH Multilocular clear cell renal cell
582 Mucopolysaccharidosis type 4 587 Muir-Torre syndrome 319287
carcinoma
309297 Mucopolysaccharidosis type 4A 2576 MULIBREY dwarfism 97366 Multilocular cyst of the kidney
309310 Mucopolysaccharidosis type 4B 2576 MULIBREY nanism Multilocular cystic renal cell
Müllerian aplasia and 319287
583 Mucopolysaccharidosis type 6 adenocarcinoma
247768
Mucopolysaccharidosis type 6, hyperandrogenism Multilocular cystic renal cell
276212 319287
rapidly progressing Müllerian derivatives- carcinoma
Mucopolysaccharidosis type 6, 1655 lymphangiectasia-polydactyly Multilocular cystic renal neoplasm
276223 syndrome 319287
slowly progressing of low malignant potential
584 Mucopolysaccharidosis type 7 Müllerian duct anomalies-limb Multilocular peritoneal inclusion
2491 168816
67041 Mucopolysaccharidosis type 9 anomalies syndrome cyst
579 Mucopolysaccharidosis type I Müllerian duct aplasia-renal 97366 Multilocular renal cyst
2578 dysplasia-cervical somite anomalies
93473 Mucopolysaccharidosis type IH 97366 Multiloculated renal cyst
syndrome
93476 Mucopolysaccharidosis type IH/S 598 Multiminicore disease
Müllerian duct failure and
580 Mucopolysaccharidosis type II 247768 598 Multiminicore myopathy
hyperandrogenism
ORPHA ORPHA ORPHA
Multinodular goiter-cystic kidney- Multiple epiphyseal dysplasia, with Multiple system atrophy,
2091 166029 98933
polydactyly syndrome severe proximal femoral dysplasia parkinsonian type
Multinucleated neurons- Multiple epiphyseal dysplasia- 102 Multisystem atrophy
anhydramnios-renal dysplasia- 166024 macrocephaly-distinctive facies Multisystemic smooth muscle
500135 404463
cerebellar hypoplasia- syndrome dysfunction syndrome
hydranencephaly syndrome Multiple epiphyseal dysplasia- 2959 Mulvihill-Smith syndrome
166011
Multiple acyl-CoA dehydrogenase myopia-deafness syndrome 2578 MURCS association
26791
deficiency Multiple fibroadenoma of the 83315 Murine typhus
50920
Multiple acyl-CoA dehydrogenase breast 2028 Murray-Puretic-Drescher syndrome
394532
deficiency, mild type 83454 Multiple glomus tumors 99849 Muscle enolase deficiency
Multiple acyl-CoA dehydrogenase 201 Multiple hamartoma syndrome 171445 Muscle filaminopathy
394529
deficiency, severe neonatal type 2300 Multiple intestinal atresia Muscle phosphoglycerate mutase
Multiple benign circumferential skin Multiple joint dislocations-short 97234
2505 deficiency
creases on limbs 284139 stature-craniofacial dysmorphism- 588 Muscle-eye-brain disease
2678 Multiple café-au-lait spots congenital heart defects syndrome Muscle-eye-brain disease with
2678 Multiple café-au-lait syndrome Multiple joint dislocations-short 370997
bilateral multicystic leucodystrophy
321 Multiple cartilaginous exostoses 294049 stature-hyperlaxity-craniofacial 588 Muscle-eye-brain syndrome
Multiple congenital anomalies- dysmorphism syndrome
280633 2576 Muscle-liver-brain-eye nanism
hypotonia-seizures syndrome 493 Multiple keratoacanthoma
Muscular atrophy-ataxia-retinitis
Multiple congenital anomalies- Multiple keratoacanthoma, 2579 pigmentosa-diabetes mellitus
300496 65748
hypotonia-seizures syndrome type 2 Ferguson-Smith type syndrome
Multiple congenital anomalies- Multiple keratoacanthoma, Muir- Muscular dystrophy with
369837 587
hypotonia-seizures syndrome type 3 Torre type 424261 progressive weakness, distal
Multiple contracture syndrome, 79455 Multiple mastocytoma contractures and rigid spine
1486
Finnish type Multiple mitochondrial dysfunctions 199340 Muscular dystrophy, Selcen type
401869
Multiple contracture syndrome, syndrome type 1 Muscular dystrophy-white matter
137776
Israeli-Bedouin type Multiple mitochondrial dysfunctions 1877
401874 spongiosis syndrome
Multiple cutaneous and uterine syndrome type 2 99849 Muscular enolase deficiency
523
leiomyomas Multiple mitochondrial dysfunctions
363424 Muscular hypertrophy-
Multiple endocrine deficiency- syndrome type 3 324416 hepatomegaly-polyhydramnios
3453 Addison disease-candidiasis Multiple mitochondrial dysfunctions syndrome
457406
syndrome syndrome type 4 Muscular pseudohypertrophy-
652 Multiple endocrine neoplasia type 1 29073 Multiple myeloma 2349
hypothyroidism syndrome
653 Multiple endocrine neoplasia type 2 →636 Multiple non-ossifying fibromatosis Musculocontractural Ehlers-Danlos
Multiple endocrine neoplasia type 435329 Multiple ossifying fibroma 2953
247698 syndrome
2A 321 Multiple osteochondromas 3079 Mutchinick syndrome
Multiple endocrine neoplasia type Multiple paragangliomas associated Mutilating hereditary sensory
247709 324299
2B with erythrocytosis 139578
neuropathy with spastic paraplegia
247709 Multiple endocrine neoplasia type 3 Multiple paragangliomas associated
324299 Mutilating HSAN with spastic
276152 Multiple endocrine neoplasia type 4 with polycythemia 139578
paraplegia
Multiple epiphyseal dysplasia due Multiple pituitary hormone Mutilating keratoderma of
166002 95494 494
to collagen 9 anomaly deficiencies, genetic forms Vohwinkel
93308 Multiple epiphyseal dysplasia type 1 Multiple pterygium syndrome, Mutilating keratoderma plus
→1234 494
93307 Multiple epiphyseal dysplasia type 4 Aslan type deafness
93311 Multiple epiphyseal dysplasia type 5 Multiple pterygium-malignant Mutilating palmoplantar
2215
Multiple epiphyseal dysplasia with hyperthermia syndrome 659 hyperkeratosis with periorificial
166016
Robin phenotype Multiple sclerosis-ichthyosis-factor keratotic plaques
3151
Multiple epiphyseal dysplasia, Al- VIII deficiency syndrome Mutilating palmoplantar
166024
Gazali type Multiple self-healing squamous 659 keratoderma with periorificial
65748
Multiple epiphyseal dysplasia, epithelioma keratotic plaques
166011
Beighton type 585 Multiple sulfatase deficiency 247798 MUTYH-related AFAP
Multiple epiphyseal dysplasia, 2398 Multiple symmetric lipomatosis MUTYH-related attenuated familial
166016 247798
Lowry type 3237 Multiple synostoses syndrome adenomatous polyposis
Multiple epiphyseal dysplasia, with 102 Multiple system atrophy MUTYH-related attenuated familial
166032 247798
miniepiphyses Multiple system atrophy, cerebellar polyposis coli
227510
type 247798 MUTYH-related attenuated FAP
ORPHA ORPHA ORPHA
29 MVA 182050 MYH9-related disease 368 Myophosphorylase deficiency
2290 MVID 182050 MYH9-related disorder 178493 Myopic macular degeneration
Myalgia-eosinophilia syndrome 182050 MYH9-related syndrome 178493 Myopic maculopathy
2582
associated with tryptophan MYH9-related syndromic 289380 Myosclerosis
182050
589 Myasthenia gravis thrombocytopenia 337 Myositis ossificans progressiva
MYBPC1-related autosomal 2588 Myhre syndrome 764 Myositis purulenta tropica
498693
recessive non-lethal AMC syndrome 109 Myhre-Riley-Smith syndrome 764 Myositis tropicans
MYBPC1-related autosomal 480491 MYO5B deficiency 306553 Myospherulosis
498693 recessive non-lethal arthrogryposis MYO5B-related progressive familial 614 Myotonia congenita
multiplex congenita syndrome 480491
intrahepatic cholestasis 99734 Myotonia fluctuans
2583 Mycetoma Myoadenylate deaminase
45 99735 Myotonia permanens
314946 Mycobacterium xenopi infection deficiency Myotonia-intellectual disability-
Mycophenolate mofetil 1942 Myoclonic atonic epilepsy 3101
embryopathy 36899 Myoclonic dystonia Myotonia-painful contractions
83482 Mycoplasma encephalitis 99736
→36899 Myoclonic dystonia 15 syndrome
Mycosis fungoides, Alibert-Bazin Myoclonic epilepsy in non- 800 Myotonic chondrodystrophy
2584 86913
type progressive encephalopathies 273 Myotonic dystrophy type 1
Mycosis fungoides-associated 86909 Myoclonic epilepsy of infancy 606 Myotonic dystrophy type 2
178512
follicular mucinosis Myoclonic status in non-progressive
86913 →52430 Myotonic dystrophy type 3
183713 MyD88 deficiency encephalopathies Myotonic myopathy, dwarfism,
59298 Myelinoclastic diffuse sclerosis 1942 Myoclonic-astastic epilepsy 800 chondrodystrophy, ocular and facial
135 Myelinosis centralis diffusa Myoclonic-astatic epilepsy in early
1942 anomalies
2585 Myelocerebellar disorder childhood 508542 MYSM1 deficiency
268813 Myelocystocele Myoclonus epilepsy and ataxia due 79105 Myxofibrosarcoma
435438
Myelodysplasia-infection-restriction to potassium channel mutation Myxoid malignant fibrous
of growth-adrenal hypoplasia- Myoclonus epilepsy associated with 79105
494433 551 histiocytoma
genital anomalies-enteropathy ragged-red fibres 99967 Myxoid/round cell liposarcoma
syndrome Myoclonus epilepsy in non-
86913 57782 Myxoma with fibrous dysplasia
Myelodysplasia-infection-restriction progressive encephalopathies Myxoma-spotty pigmentation-
of growth-adrenal hypoplasia- Myoclonus-cerebellar ataxia- 1359
494433 2589 endocrine overactivity syndrome
genital phenotypes-enteropathy deafness syndrome 251643 Myxopapillary ependymoma
syndrome 36899 Myoclonus-dystonia syndrome
2608 N syndrome
Myelodysplastic syndrome →36899 Myoclonus-dystonia type 15
86841 associated with isolated del(5q) N-acetyl-alpha-glucosaminidase
163696 Myoclonus-nephropathy syndrome 79270
chromosome abnormality deficiency
Myofibrillar myopathy with early N-acetylgalactosamine 4-sulfatase
Myelofibrosis with myeloid 178464 583
824 respiratory failure deficiency
metaplasia
178464 Myofibrillar myopathy-titinopathy N-acetylgalactosamine-6-sulfate
86850 Myeloid sarcoma 309297
Myopathic intestinal sulfatase deficiency
Myeloid/lymphoid neoplasm 104077
pseudoobstruction N-acetylglucosamine 1-
168953 associated with FGFR1 576
2596 Myopathy and diabetes mellitus phosphotransferase deficiency
rearrangement
Myopathy due to calsequestrin and N-acetylglucosaminyltransferase 2
Myeloid/lymphoid neoplasm 88635 79329
SERCA1 protein overload deficiency
168947 associated with PDGFRA
rearrangement Myopathy due to phosphoglycerate N-acyl-L-amino acid amidohydrolase
97234 137754
mutase deficiency deficiency
Myeloid/lymphoid neoplasm
168950 associated with PDGFRB Myopathy with exercise 103908 Na-H exchange deficiency
43115
rearrangement intolerance, Swedish type 178303 Nablus mask-like facial syndrome
29073 Myelomatosis Myopathy with hexagonally cross- 439196 NAE
171889
linked tubular arrays 69087 Naegeli syndrome
93969 Myelomeningocele
Myopathy, lactic acidosis and Naegeli-Franceschetti-Jadassohn
2587 Myeloperoxidase deficiency 2598
sideroblastic anemia 69087
MYH7-related late-onset syndrome
437572 Myopathy-growth delay-intellectual Naevus syringocystadenomatosus
scapuloperoneal muscular dystrophy 2601
840
disability-hypospadias syndrome papilliferus
MYH7-related late-onset
437572 Myopathy-Moebius-Robin
scapuloperoneal syndrome 1358 245 NAFD
syndrome
437572 MYH7-related late-onset SPMD 3137 NAGA deficiency
289685 Myopericytoma
182050 MYH9-RD 79279 NAGA deficiency type 1
ORPHA ORPHA ORPHA
79280 NAGA deficiency type 2 168572 Native American myopathy 398117 Neonatal dermatomyositis
79281 NAGA deficiency type 3 69739 Navajo brainstem syndrome Neonatal diabetes-congenital
245 Nager acrofacial dysostosis 255229 Navajo neurohepatopathy hypothyroidism-congenital
79118
245 Nager syndrome 255229 Navajo neuropathy glaucoma-hepatic fibrosis-polycystic
927 NAGS deficiency 34217 Naxos disease kidneys syndrome
2211 Naguib-Richieri-Costa syndrome 377 NBCCS 398117 Neonatal DM
Nail and teeth abnormalities- 157850 NBIA1 Neonatal encephalomyopathy-
marginal palmoplantar 457185 cardiomyopathy-respiratory distress
423454
216873 NBIA1, atypical form
keratoderma-oral syndrome
216866 NBIA1, classic form
hyperpigmentation syndrome Neonatal glomerulopathy due to
289560 NBIA4 69063
Nail dysplasia-camptodactyly- Neprilysin alloimmunization
→1487 329284 NBIA5
brachydactyly type B syndrome Neonatal glomerulopathy due to
397725 NBIA6 69063
2614 Nail-patella syndrome neprilysin alloimmunization
289560 NBIA due to C19orf12 mutation
2613 Nail-patella-like renal disease 289857 Neonatal glycine encephalopathy
647 NBS
158676 446 Neonatal hemochromatosis
Nails-only DDEB 240760 NBS-like disorder
853 NAIT 398097 Neonatal Hughes syndrome
240760 NBSLD
101 Naito-Oyanagi disease Neonatal hypoxic and ischemic
217560 NCHI 137577
2229 Najjar syndrome brain injury
1947 NCL, Northern epilepsy variant Neonatal ichthyosis-sclerosing
1063 Nakagawa angioblastoma 2481 NCM 59303
cholangitis syndrome
2615 Nakajo-Nishimura syndrome 75327 NCMD Neonatal inflammatory skin and
2822 Nakamura-Osame syndrome 294023
91495 NCRNA disease bowel disease
44 NALD NDE1-related Neonatal intrahepatic cholestasis
206569 NAM 443162 247598
microhydranencephaly caused by citrin deficiency
→1359 NAME syndrome 1398 Near total absence of cerebellum Neonatal intrahepatic cholestasis
383 Nance deafness 247598
Nebulin-related early-onset distal due to citrin deficiency
627 399103
Nance-Horan syndrome myopathy 238688 Neonatal iodine exposure
Nanophtalmos-retinitis pigmentosa- 158011 Necrobiotic xanthogranuloma 398124 Neonatal lupus erythematosus
251279 foveoschisis-optic disc drusen 439196 Necrolytic acral erythema 284979 Neonatal Marfan syndrome
syndrome 391673 Necrotizing enterocolitis Neonatal membranous
35612 Nanophthalmia 440368 Necrotizing soft tissue infection 69063 glomerulopathy with maternal NEP
85196 NAO syndrome deficiency
217560 NEHI
247868 NAPS12 Neonatal membranous
NEK9-related lethal skeletal
2073 Narcolepsy type 1 464366
dysplasia 69063 glomerulopathy with maternal
83465 Narcolepsy type 2 199244 Nelson syndrome neutral endopeptidase deficiency
83465 Narcolepsy without cataplexy 100079 NEN of appendix 284979 Neonatal MFS
2073 Narcolepsy-cataplexy 506136 NEN of esophagus Neonatal multiple carboxylase
79242
644 NARP syndrome deficiency
Neonatal acute respiratory distress
141103 Nasal dermoid cyst 217563 391504 Neonatal myasthenia gravis
due to SP-B deficiency
141103 Nasal dermoid sinus cyst Neonatal acute respiratory distress →42738 Neonatal neutropenia
141219 Nasal dorsum fistula 217563 due to surfactant protein B 289857 Neonatal NKH
141118 Nasal encephalocele deficiency Neonatal non-ketotic
289857
141115 Nasal ganglioglioma 44 Neonatal adrenoleukodystrophy hyperglycinemia
141112 Nasal glial heterotopia 398109 Neonatal AHA 56304 Neonatal osseous dysplasia type 1
141112 Nasal glioma 398109 Neonatal AIHA 3455 Neonatal progeroid syndrome
86879 Nasal T/natural killer-cell lymphoma 464370 Neonatal alloimmune neutropenia Neonatal respiratory distress
70587
2662 Nasodigitoacoustic syndrome Neonatal antiphospholipid antibody syndrome
398097
141083 Nasolacrimal duct cyst syndrome Neonatal Schwartz-Jampel
3206
141083 Nasolacrimal mucocele Neonatal antiphospholipid syndrome
398097
syndrome 398127 Neonatal scleroderma
Nasopalpebral lipoma-coloboma
2399 Neonatal severe cardiopulmonary
syndrome Neonatal autoimmune hemolytic
398109
150 Nasopharyngeal carcinoma anemia 466784 failure due to mitochondrial
141107 Nasopharyngeal teratoma 137929 Neonatal brainstem dysfunction methylation defect
2770 Nasu-Hakola disease 314911 Neonatal Canavan disease Neonatal severe primary
417
313906 Neonatal congenital pancreatic cyst hyperparathyroidism
2663 Nathalie syndrome
ORPHA ORPHA ORPHA
Neonatal-onset multisystem 93921 Neurilemmomatosis Neuroendocrine cell hyperplasia of
1451 217560
inflammatory disease 252164 Neurilemoma infancy
Neoplastic hypereosinophilic Neuro-immuno-skeletal dysplasia Neuroendocrine neoplasm of
314950 508533 100079
syndrome syndrome due to EXTL3 deficiency appendix
94058 Neovascular glaucoma 635 Neuroblastoma Neuroendocrine neoplasm of
506136
654 Nephroblastoma 2481 Neurocutaneous melanocytosis esophagus
Nephroblastomatosis-fetal ascites- 2481 Neurocutaneous melanosis Neuroendocrine neoplasm of the
2849 100080
macrosomia-Wilms tumor syndrome Neurocutaneous syndrome, Bicknell colon
35664 100082 Neuroendocrine tumor of anal canal
223 Nephrogenic diabetes insipidus type
Nephrogenic diabetes insipidus- Neurodegeneration due to 3- 100075 Neuroendocrine tumor of stomach
3145
intracranial calcification syndrome 88639 hydroxyisobutyryl-CoA hydrolase 100080 Neuroendocrine tumor of the colon
137617 Nephrogenic fibrosing dermopathy deficiency Neuroendocrine tumor of the
100081
Nephrogenic syndrome of Neurodegeneration with brain iron rectum
93606
inappropriate antidiuresis 289560 accumulation due to C19orf12 2677 Neuroepithelioma
137617 Nephrogenic systemic fibrosis mutation 2673 Neurofaciodigitorenal syndrome
93622 Nephrolithiasis type 1 Neurodegeneration with brain iron 157846 Neuroferritinopathy
93623 Nephrolithiasis type 2 397725 accumulation due to COASY 252183 Neurofibroma
655 Nephronophthisis mutation 137605 Neurofibromatosis 1-like syndrome
Nephronophthisis with retinal Neurodegeneration with brain iron 636 Neurofibromatosis type 1
3156 157850
dystrophy accumulation type 1 Neurofibromatosis type 1 due to
Neurodegeneration with brain iron 363700
Nephronophthisis-hepatic fibrosis 216873 NF1 mutation or intragenic deletion
84081 accumulation type 1, atypical form
syndrome Neurofibromatosis type 1
Neurodegeneration with brain iron 97685
411629 Nephropathic infantile cystinosis 216866 microdeletion syndrome
Nephropathy-deafness- accumulation type 1, classic form Neurofibromatosis type 1-Noonan
2668 Neurodegeneration with brain iron 638
hyperparathyroidism syndrome 289560 syndrome
Nephrosis-deafness-urinary tract- accumulation type 4 637 Neurofibromatosis type 2
2669 Neurodegeneration with brain iron
digital malformations syndrome 329284 93921 Neurofibromatosis type 3
Nephrosis-neuronal dysmigration accumulation type 5
2065
2678 Neurofibromatosis type 6
syndrome Neurodegenerative syndrome due
Neurofibromatosis-Noonan
217382 to cerebral folate transport 638
Nephrotic syndrome-deafness- syndrome
300333 pretibial epidermolysis bullosa deficiency
3148 Neurofibrosarcoma
syndrome Neurodevelopmental delay-
970 Neurogenic acroosteolysis
Nephrotic syndrome-hearing loss- seizures-ophthalmic anomalies-
529665 Neurogenic arthrogryposis
300333 pretibial epidermolysis bullosa osteopenia-cerebellar atrophy 1143
syndrome multiplex congenita
syndrome 100073 Neurogenic cervical rib syndrome
2337 NEPPK Neurodevelopmental disorder-
453499 craniofacial dysmorphism-cardiac Neurogenic costoclavicular
Nestor-Guillermo progeria 100073
280576 defect-hip dysplasia syndrome syndrome
syndrome 178029 Neurogenic diabetes insipidus
Neurodevelopmental disorder-
100082 NET of anal canal
craniofacial dysmorphism-cardiac Neurogenic muscle weakness-
100075 NET of stomach 352665
defect-hip dysplasia syndrome due 644 ataxia-retinitis pigmentosa
100080 NET of the colon to 9q21 microdeletion syndrome
100081 NET of the rectum Neurodevelopmental disorder- 98593 Neurogenic palpebral tumor
634 Netherton syndrome craniofacial dysmorphism-cardiac 3148 Neurogenic sarcoma
453504
2671 Neu-Laxova syndrome defect-hip dysplasia syndrome due Neurogenic scapuloperoneal
431255
99078 Neuhauser anomaly to a point mutation amyotrophy, New England type
2479 Neuhäuser syndrome Neuroectodermal dysplasia, CHIME Neurogenic scapuloperoneal
3474 85146
3350 Neuhauser-Daly-Magnelli syndrome type syndrome, Kaeser type
2672 Neuhauser-Eichner-Opitz syndrome Neuroectodermal melanolysosomal Neurogenic thoracic outlet
33445 100073
157826 Neumann tumor disease compression syndrome
2901 Neuralgic amyotrophy Neuroectodermal syndrome, Zunich Neurogenic thoracic outlet
3474 100073
2901 Neuralgic shoulder amyotrophy type syndrome
Neuraminidase deficiency with Neuroectodermal-endocrine 100073 Neurogenic TOS
351 2676
beta-galactosidase deficiency syndrome 94093 Neuroleptic malignant syndrome
268865 Neurenteric cyst Neuroendocrine carcinoma of 36397 Neurolipomatosis
506098
252164 Neurilemmoma pancreas
ORPHA ORPHA ORPHA
Neurologic Waardenburg-Shah 263425 Nevus of Ota 647 Nijmegen breakage syndrome
163746
syndrome 2612 Nevus sebaceus of Jadassohn Nijmegen breakage syndrome-like
240760
Neurological conditions associated 2612 Nevus sebaceus syndrome disorder
137754
with aminoacylase 1 deficiency New-onset refractory status 447731 NIK deficiency
363558
206586 Neurolymphomatosis epilepticus 781 Nine Mile fever
71211 Neuromyelitis optica 83471 Nezelof syndrome 99825 Nipah encephalitis
Neuronal ceroid lipofuscinosis, 636 NF1 99825 Nipah fever
1947
Northern epilepsy variant 97685 NF1 microdeletion syndrome 99825 Nipah virus disease
Neuronal intestinal 137605 NF1-like syndrome 59303 NISCH syndrome
99811
pseudoobstruction 637 NF2 1422 Nivelon-Nivelon-Mabille syndrome
Neuronal intranuclear inclusion 93921 NF3 263665 NK-cell enteropathy
2289
disease 2678 NF6 NK-cell large granular lymphocyte
Neuropathy associated with 86873
529980 NFAT5 deficiency leukemia
639 monoclonal IgM antibodies to
529980 NFAT5 haploinsufficiency 86873 NK-cell LGL leukemia
myelin-associated glycoprotein
69087 NFJ syndrome NK-cell lineage granular lymphocyte
Neuropathy with hearing 512017
139512 638 NFNS proliferative disorder
impairment
91349 NFPA 86879 NK/T-cell lymphoma
Neuropathy-ataxia-retinitis
644 401869 NFU1 deficiency 407 NKA
pigmentosa syndrome
289356 NGCO 86879 NKTCL
Neurosensory deafness with dilated
217622 404454 NKX6-2-related autosomal recessive
cardiomyopathy NGLY1 deficiency 527497
404454 NGLY1-CDDG hypomyelinating leukodystrophy
Neurosensory hearing loss with
217622 86893 NLPHL
dilated cardiomyopathy 280576 NGPS
137596 Neurotrophic keratitis 2770 NHD NLRC4-related autoinflammatory
436166 syndrome with macrophage
137596 Neurotrophic keratopathy 169079 NHEJ1 deficiency
activation syndrome
Neutral lipid storage disease with 276608 NI-PHH
98907 NLRC4-related autoinflammatory
ichthyosis 247598 NICCD 436166
syndrome with MAS
Neutral lipid storage disease with 141179 NICH
98908 NLRC4-related infantile
myopathy without ichthyosis 3051 Nicolaides-Baraitser syndrome 436166 enterocolitis-autoinflammatory
98908 Neutral lipid storage myopathy 77292 Niemann-Pick disease type A syndrome
Neutropenia-hyperlymphocytosis 77293 Niemann-Pick disease type B NLRC4-related macrophage
→86872 with large granular lymphocytes 646 436166
Niemann-Pick disease type C activation syndrome
syndrome Niemann-Pick disease type C, adult
216986 436166 NLRC4-related MAS
Neutropenia-monocytopenia- neurologic onset
2690 NLRP12-associated hereditary
deafness syndrome Niemann-Pick disease type C, classic 247868
216981 periodic fever syndrome
Neutrophil immunodeficiency form
183707 98907 NLSDI
syndrome Niemann-Pick disease type C,
216981 98908 NLSDM
Neutrophil-specific granule juvenile neurologic onset
169142 443167 NMC
deficiency Niemann-Pick disease type C, late
216978 391504 NMG
575 Neutrophilic urticaria infantile neurologic onset
370059 NEVADA syndrome
86867 NMZL
Niemann-Pick disease type C, severe
216975 2615 NNS
Nevi-atrial myxoma-myxoid early infantile neurologic onset
→1359 1884 Noble-Bass-Sherman syndrome
neurofibromata-ephelides syndrome Niemann-Pick disease type C, severe
216972 31204 Nocardiosis
→1900 Nevo syndrome perinatal form
Nevoid basal cell carcinoma →646 Niemann-Pick disease type D
→98784 Nocturnal paroxysmal dystonia
377 Nodal marginal zone B-cell
syndrome 99022 Niemann-Pick disease type E 86867
228264 Nevus anelasticus lymphoma
Niemann-Pick disease, Nova Scotia
→646 137810 Nodular cutaneous amyloidosis
64754 Nevus comedonicus syndrome type
228254 Nevus elasticus 477742 Nodular fasciitis
2633 Nievergelt syndrome
Nevus epidermicus verrucosus with 90393 Nodular lichen myxedematosus
370059 Night blindness-skeletal anomalies-
1390 Nodular lymphocyte predominant
angiodysplasia and aneurysms dysmorphism syndrome 86893
Nevus fuscocaeruleus Nigro-spino-dentatal degeneration Hodgkin lymphoma
263432 98757 2149 Nodular neuronal heterotopia
acromiodeltoideus with nuclear ophthalmoplegia
Nevus fusculoceruleus 432 nIHH Nodular non-suppurative
263425 33577
ophthalmomaxillaris 2322 Niikawa-Kuroki syndrome panniculitis
263432 Nevus of Ito
ORPHA ORPHA ORPHA
Nodular regenerative hyperplasia of Non-dysgerminomatous germ cell Non-inflammatory peeling skin
48372 206538 263548
the liver cancer of ovary syndrome type A
158772 Nodular urticaria pigmentosa Non-dysgerminomatous germ cell Non-involuting congenital
363494 141179
Nodulosis-arthropathy-osteolysis tumor of testis hemangioma
85196
syndrome Non-epidermolytic palmoplantar 407 Non-ketotic hyperglycinemia
2337
2700 Noma keratoderma Non-Leber type optic atrophy with
98890
1451 NOMID syndrome Non-epidermolytic palmoplantar early-onset
→2199
73267 Non-24-hour sleep-wake syndrome keratoderma 411641 Non-nephropathic cystinosis
Non-acquired combined pituitary Non-eruption of teeth-maxillary 84085 Non-neurogenic neurogenic bladder
2972
231720 hormone deficiency-deafness-rigid hypoplasia-genu valgum syndrome Non-papillary transitional cell
209989
cervical spine syndrome 100070 Non-fluent variant PPA carcinoma of the bladder
Non-acquired combined pituitary Non-functioning neuroendocrine 209989 Non-papillary urothelial carcinoma
506075
hormone deficiency-sensorineural tumor of pancreas Non-phenylketonuric
231720 238583
hearing loss-spine abnormalities 506075 Non-functioning pancreatic NET hyperphenylalaninemia
syndrome Non-functioning pancreatic Non-phenylketonuric non-BH4-
506075 508523
Non-acquired isolated growth neuroendocrine tumor deficiency hyperphenylalaninemia
631
hormone deficiency 94080 Non-functioning paraganglioma 79651 Non-PKU HPA
Non-amyloid fibrillary 91349 Non-functioning pituitary adenoma →144 Non-polyposis Turcot syndrome
97566
glomerulonephritis 506075 Non-functioning PNET Non-progressive cerebellar ataxia
Non-amyloid fibrillary 314647
97566 Non-functioning well-differentiated with intellectual disability
glomerulopathy 506075
NEN of pancreas Non-progressive cerebellar ataxia-
86861 Non-amyloid MIDD 1766
Non-functioning well-differentiated intellectual disability syndrome
Non-amyloid monoclonal 506075 neuroendocrine neoplasm of Non-progressive predominantly
86861
immunoglobulin deposition disease pancreas posterior cavitating
436271
Non-bullous congenital Non-functioning well-differentiated leukoencephalopathy with
79394 506075
ichthyosiform erythroderma pancreatic NEN peripheral neuropathy
Non-central nervous system- Non-functioning well-differentiated 439202 Non-recovering OBPI
289362
localized embryonal carcinoma 506075 pancreatic neuroendocrine 439202 Non-recovering OBPL
Non-cerebral juvenile Gaucher neoplasm Non-recovering obstetric brachial
77259 439202
disease Non-giant cell granulomatous plexus lesion
26137
48372 Non-cirrhotic nodulation temporal arteritis with eosinophilia 101106 Non-secreting chemodectoma
854 Non-cirrhotic portal vein thrombosis Non-hereditary congenital primary 94080 Non-secreting paraganglioma
→79452
Non-classic congenital lipoid lymphedema Non-seminomatous germ cell tumor
325529 adrenal hyperplasia due to STAR Non-hereditary late-onset primary 363494
→90186 of testis
deficency lymphedema Non-specific idiopathic interstitial
Non-CNS-localized embryonal 357034 Non-hereditary retinoblastoma 91364
289362 pneumonia
carcinoma Non-herpetic acute limbic 91364 Non-specific interstitial pneumonia
163924
Non-deforming osteogenesis encephalitis 206572 Non-specific myositis
216796
imperfecta Non-hypoproteinemic hypertrophic Non-specific syndromic intellectual
329883 528084
96136 Non-distal deletion 7p gastropathy disability
1581 Non-distal deletion 10q Non-Ig-mediated Non-spherocytic hemolytic anemia
96160 Non-distal deletion 12q 329918 membranoproliferative 90031
due to hexokinase deficiency
96164 Non-distal deletion 20q glomerulonephritis 35099 Non-syndromic bicoronal synostosis
96112 Non-distal duplication 9q 329918 Non-Ig-mediated MPGN
30391 Non-syndromic biliary atresia
1695 Non-distal duplication 10q 363999 Non-immune fetal edema
Non-syndromic congenital retinal
363999 Non-immune fetal hydrops 91495
1702 Non-distal duplication 13q non-attachment
96136 Non-distal monosomy 7p 363999 Non-immune HF Non-syndromic dentinogenesis
363999 Non-immune hydrops fetalis 49042
1581 Non-distal monosomy 10q imperfecta
96160 Non-distal monosomy 12q Non-immunoglobulin-mediated 49042 Non-syndromic DGI
96164 Non-distal monosomy 20q 329918 membranoproliferative 87884 Non-syndromic genetic deafness
3306 Non-distal tetrasomy 15q glomerulonephritis Non-syndromic male infertility due
Non-immunoglobulin-mediated 276234
96112 Non-distal trisomy 9q 329918 asthenozoospermia
MPGN Non-syndromic male infertility due
1695 Non-distal trisomy 10q
Non-inflammatory generalized 276234
1702 Non-distal trisomy 13q 263548 to sperm motility disorder
peeling skin syndrome type A.
329469 Non-DS-AMKL
ORPHA ORPHA ORPHA
Non-syndromic metopic 314928 NPH 370097 OCA6
3366
craniosynostosis NPHP3-related Meckel-like 352745 OCA7
3032
35093 Non-syndromic sagittal synostosis syndrome Occipital atretic cephalocele-
217017
Non-syndromic unicoronal 480476 NR1H4 deficiency unusual facies-large feet syndrome
35098
synostosis 634 NS 268823 Occipital encephalocele
96136 Non-telomeric monosomy 7p 88616 NS-ARID 198 Occipital horn syndrome
1581 Non-telomeric monosomy 10q 2701 NS/LAH Occipital malformations of cortical
280640
96160 Non-telomeric monosomy 12q 417 NSHPT development
96164 Non-telomeric monosomy 20q 93606 NSIAD 280640 Occipital MCD
3306 Non-telomeric tetrasomy 15q 91364 NSIP Occipital pachygyria and
280640
96112 Non-telomeric trisomy 9q 440368 NSTI polymicrogyria
1695 Non-telomeric trisomy 10q 454840 NTHL1-related AFAP Occlusive idiopathic juxtafoveolar
353351
1702 Non-telomeric trisomy 13q NTHL1-related attenuated familial retinal telangiectasis
454840 51608 Occlusive infantile arteriopathy
Non-tuberculous mycobacterial lung adenomatous polyposis
411703
disease 454840 NTHL1-related attenuated FAP 1647 OCCS
Non-Wilsonian hepatic copper 100073 NTOS 99889 Occult ectopic ACTH secretion
209919
toxicosis of infancy and childhood 314790 Null pituitary adenoma 247834 Occult macular dystrophy
602 Nonaka myopathy 280234 Null syndrome 84085 Occult neuropathic bladder
79452 Nonne-Milroy lymphedema 443167 NUT midline carcinoma 2704 Ochoa syndrome
648 Noonan syndrome 54 OA1 247834 OCMD
Noonan syndrome with multiple 398156 OAFNS 534 OCR
500
lentigines 1106 OAS 534 OCRL
Noonan syndrome-like disorder 374 OAV dysplasia 664 OCT deficiency
363972
with JMML 374 OAVS 54 Ocular albinism type 1
Noonan syndrome-like disorder 97297 Oberklaid-Danks syndrome Ocular albinism with congenital
363972 with juvenile myelomonocytic 352740
397615 Obesity due to CEP19 deficiency sensorineural deafness
leukemia Ocular albinism with late-onset
Obesity due to congenital leptin 1000
Noonan syndrome-like disorder 66628 sensorineural deafness
2701 deficiency
with loose anagen hair Ocular albinism, Nettleship-Falls
Obesity due to leptin receptor gene 54
230 Noradrenaline deficiency 179494 type
deficiency
230 Norepinephrine deficiency 99922 Ocular cicatricial pemphigoid
Obesity due to melanocortin 4
314928 Normal pressure hydrocephalus 71529 411641 Ocular cystinosis
receptor deficiency
2254 Norman disease Ocular form of osteogenesis
Obesity due to pro- 2788
79255 Norman-Landing disease 71526
opiomelanocortin deficiency imperfecta
→682 Normokalemic periodic paralysis 1125 Ocular motor apraxia, Cogan type
Obesity due to prohormone
→682 Normokalemic PP 71528
convertase I deficiency 534 Oculo-cerebro-renal dystrophy
→682 NormoKPP 369873 Obesity due to SIM1 deficiency 534 Oculo-cerebro-renal syndrome
812 Normomorphic sialidosis Obesity-colitis-hypothyroidism- Oculo-digito-esophageal-duodenal
1305
→682 NormoPP 88643 cardiac hypertrophy-developmental syndrome
Normosmic congenital delay syndrome Oculo-digito-esophageal-duodenal
432 391641
hypogonadotropic hypogonadism 1303 Obliterative bronchiolitis syndrome type 1
Normosmic idiopathic 64743 Obliterative portal venopathy →1200 Oculo-oto-facial dysplasia
432
hypogonadotropic hypogonadism 2970 Obrinsky syndrome 2307 Oculo-oto-radial syndrome
649 Norrie disease Obstructed hemivagina and 2714 Oculo-palato-cerebral dwarfism
3411
649 Norrie-Warburg disease ipsilateral renal anomaly 2714 Oculo-palato-cerebral syndrome
363558 NORSE 352731 OCA1 →293843 Oculo-skeletal-abdominal syndrome
75327 North Carolina macular dystrophy 352734 OCA1-MP Oculoauricular syndrome,
157962
North Carolina macular dystrophy, 352737 OCA1-TS Schorderet type
75327
retinal 1 79431 OCA1A 398156 Oculoauriculofrontonasal syndrome
North Sea progressive myoclonus 79434 OCA1B 374 Oculoauriculovertebral dysplasia
280620
epilepsy 79432 OCA2 Oculoauriculovertebral spectrum
2549
1947 Northern epilepsy 79433 OCA3 with radial defects
79293 Norum disease 79435 OCA4 374 Oculoauriculovertebral syndrome
178 Notochordal sarcoma 370091 OCA5 2705 Oculocerebral dysplasia
2703 Nova syndrome
ORPHA ORPHA ORPHA
Oculocerebral hypopigmentation Odonto-onycho-hypohidrotic 216812 OI type 3
2719
syndrome, Cross type →2036 dysplasia-midline scalp defects 216820 OI type 4
Oculocerebral hypopigmentation syndrome 216828 OI type 5
2720
syndrome, Preus type Odonto-tricho-ungual-digito-palmar 2729 Okamoto syndrome
69082
1647 Oculocerebrocutaneous syndrome syndrome 93293 Okihiro syndrome
Oculocerebrofacial syndrome, Odonto-tricho-ungual-digito-palmar Okihiro syndrome due to 20q13
2707 69082 261638
Kaufman type syndrome, Mendoza-Valiente type microdeletion
534 Oculocerebrorenal dystrophy 166272 Odontochondrodysplasia Okihiro syndrome due to a point
447777 Odontogenic keratocystoma 261647
Oculocerebrorenal syndrome of mutation
534
Lowe 247685 Odontohypophosphatasia Okihiro syndrome due to
261638
352731 Oculocutaneous albinism type 1 77295 Odontoleukodystrophy del(20)(q13)
79431 Oculocutaneous albinism type 1A Odontomatosis-aortae esophagus Okihiro syndrome due to
2724 261638
79434 Oculocutaneous albinism type 1B stenosis syndrome monosomy 20q13
79432 Oculocutaneous albinism type 2 1811 Odontomicronychial dysplasia 69088 OL-EDA-ID
79433 Oculocutaneous albinism type 3 2723 Odontotrichomelic syndrome →113 Oley syndrome
79435 Oculocutaneous albinism type 4 1487 ODP Olfacto-genital pathological
478
370091 Oculocutaneous albinism type 5 93929 OEIS complex sequence
370097 Oculocutaneous albinism type 6 Oerter-Friedman-Anderson 1957 Olfactory neuroblastoma
2676
352745 Oculocutaneous albinism type 7 syndrome 85410 Oligoarticular JIA
Oculocutaneous albinism, Amish 2792 OFC syndrome Oligoarticular JIA with anti-nuclear
79434 247839
type 2712 OFCD syndrome antibodies
28378 Oculocutaneous tyrosinemia 488265 OFD Oligoarticular JIA without anti-
247846
Oculodental syndrome, Rutherfurd 2750 OFD1 nuclear antibodies
2709
type 2751 OFD2 Oligoarticular juvenile idiopathic
85410
2710 Oculodentodigital dysplasia 2752 OFD3 arthritis
2710 Oculodentoosseous dysplasia 2753 OFD4 Oligoarticular juvenile idiopathic
247839
3339 Oculoectodermal syndrome 2919 OFD5 arthritis with anti-nuclear antibodies
2712 Oculofaciocardiodental syndrome 2754 OFD6 Oligoarticular juvenile idiopathic
247846 arthritis without anti-nuclear
Oculogastrointestinal muscular →2750 OFD7
1876 antibodies
dystrophy 2755 OFD8
251656 Oligoastrocytoma
2108 Oculomandibulofacial syndrome 141007 OFD9
75378 Oligocone syndrome
1794 Oculomaxillofacial dysostosis 2756 OFD10
1154 Oculomelic amyoplasia
75378 Oligocone trichromacy
141000 OFD11
251627 Oligodendroglioma
1125 Oculomotor apraxia, Cogan type 141327 OFD12
99798 Oligodontia
2713 Oculoosteocutaneous syndrome 141330 OFD13
99806 Oculootodental syndrome Oligodontia-cancer predisposition
434179 OFD14 300576
syndrome
→293843 Oculopalatoskeletal syndrome 508501 OFD18
2260 Oligomeganephronia
98897 Oculopharyngeal distal myopathy 2750 OFDI
Oligomeganephronic renal
Oculopharyngeal muscular 2750 OFDSI 2260
270 hypoplasia
dystrophy Off-periods in Parkinson disease not
391655 137831 Oligophrenin-1 syndrome
98897 Oculopharyngodistal myopathy responding to oral treatment
2920 Oliver syndrome
2715 Oculorenocerebellar syndrome 424080 OGCT of pancreas
3363 Oliver-McFarlane syndrome
2717 Oculotrichoanal syndrome 276432 Ogden syndrome
Olivopontocerebellar atrophy-
2718 Oculotrichodysplasia 75382 Oguchi disease 2732
deafness syndrome
166272 ODCD 75382 Oguchi syndrome 166063 Olivopontocerebellar hypoplasia
2710 ODDD syndrome 1186 Ohaha syndrome 296 Ollier disease
1305 ODED syndrome 2728 Ohdo syndrome 659 Olmsted syndrome
391641 ODED syndrome type 1 2728 Ohdo-Madokoro-Sonoda syndrome 1183 OMA syndrome
999 O'Doherty syndrome 64739 OHSS 247834 OMD
2253 O'Donnell-Pappas syndrome 1934 Ohtahara syndrome 39041 Omenn syndrome
Odonto-onycho dysplasia-alopecia 3411 OHVIRA syndrome
2722 2741 OMM syndrome
syndrome 666 OI 2733 Omodysplasia
2721 Odonto-onycho-dermal dysplasia 216796 OI type 1 660 Omphalocele
216804 OI type 2
ORPHA ORPHA ORPHA
Omphalocele syndrome, Shprintzen- 1308 Opitz trigonocephaly C syndrome Oral-facial-digital syndrome with
3164
Goldberg type 1308 Opitz trigonocephaly syndrome 508501 short stature and
Omphalocele-cloacal exstrophy- 97297 Opitz trigonocephaly-like syndrome brachymesophalangy
93929 imperforate anus-spinal defect 1786 Opitz-Caltabiano syndrome Oral-facial-digital syndrome,
2755
syndrome 2745 Opitz-Frias syndrome Edwards type
Omphalocele-diaphragmatic hernia- 93932 Opitz-Kaveggia syndrome Oral-facial-digital syndrome,
141000
496693 cardiovascular anomalies-radial ray Gabrielli type
270 OPMD
defect syndrome 500062 ORAS
256 Oppenheim dystonia
490 Omphalomesenteric cyst Orbital cyst with cerebral and focal
2788 OPPG 1647
210115 OMPP dermal malformations
2746 Opsismodysplasia
1183 OMS 52994 Orbital leiomyoma
1183 Opsoclonus-myoclonus syndrome
319266 Omsk hemorrhagic fever 268139 Orbital medulloepithelioma
Opsoclonus-myoclonus-ataxia
3191 Onat syndrome 1183 2612 Organoid nevus syndrome
syndrome
2737 Onchocerciasis 166421 Orgasm-induced seizures
Optic ataxia-gaze apraxia-
137675 Oncocytic cardiomyopathy 363746 49041 Ormond disease
simultanagnosia syndrome
Oncogenic hypophosphatemic 98673 Optic atrophy type 1 Ornithine aminotransferase
352540 414
osteomalacia 98890 Optic atrophy type 2 deficiency
352540 Oncogenic osteomalacia Optic atrophy-deafness- Ornithine carbamoyltransferase
664
661 Ondine curse 1215 polyneuropathy-myopathy deficiency
661 Ondine syndrome syndrome 415 Ornithine carrier deficiency
99803 Ondine-Hirschsprung disease Optic atrophy-intellectual disability Ornithine transcarbamylase
401777 664
99803 Ondine-Hirschsprung syndrome syndrome deficiency
→33364 ONMR syndrome Optic atrophy-ophthalmoplegia- 415 Ornithine translocase deficiency
→1215 415 ORNT1 deficiency
238744 Onycho-digito-mammary syndrome ptosis-deafness-myopathy syndrome
Onycho-tricho-dysplasia- Optic atrophy-peripheral 2319 Orocraniodigital syndrome
→33364
neutropenia syndrome 496790 neuropathy-developmental delay 353253 Orodynia
300504 Onychocytic matricoma syndrome 2750 Orofaciodigital syndrome type 1
300512 Onychomatricoma 519404 Optic disc pit 2751 Orofaciodigital syndrome type 2
2614 Onychoosteodysplasia Optic nerve edema-splenomegaly 2752 Orofaciodigital syndrome type 3
313800
2786 OOCHS syndrome 2753 Orofaciodigital syndrome type 4
99806 OOD 2086 Optic pathway glioma 2919 Orofaciodigital syndrome type 5
2721 OODD 353253 Oral dysesthesia 2754 Orofaciodigital syndrome type 6
98890 OPA2 31142 Oral erosive lichen →2750 Orofaciodigital syndrome type 7
67036 OPA3, autosomal dominant 357154 Oral submucous fibrosis 2755 Orofaciodigital syndrome type 8
49042 Opalescent teeth without OI Oral tongue squamous cell 141007 Orofaciodigital syndrome type 9
457252
Opalescent teeth without carcinoma 2756 Orofaciodigital syndrome type 10
49042 2750 Oral-facial-digital syndrome type 1
osteogenesis imperfecta 141000 Orofaciodigital syndrome type 11
90650 OPD I syndrome 2751 Oral-facial-digital syndrome type 2 141327 Orofaciodigital syndrome type 12
90652 OPD II syndrome 2752 Oral-facial-digital syndrome type 3 141330 Orofaciodigital syndrome type 13
90650 OPD syndrome 1 2753 Oral-facial-digital syndrome type 4 434179 Orofaciodigital syndrome type 14
90652 OPD syndrome 2 2919 Oral-facial-digital syndrome type 5 508501 Orofaciodigital syndrome type 18
98897 OPDM 2754 Oral-facial-digital syndrome type 6 Orofaciodigital syndrome with
2756
268363 Open iniencephaly →2750 Oral-facial-digital syndrome type 7 fibular aplasia
137831 OPHN1 syndrome 2755 Oral-facial-digital syndrome type 8 Orofaciodigital syndrome with
141007
1106 Ophthalmoacromelic syndrome 141007 Oral-facial-digital syndrome type 9 retinal abnormalities
Ophthalmomandibulomelic 2756 Oral-facial-digital syndrome type 10 Orofaciodigital syndrome, Edwards
2741 2755
dysplasia 141000 Oral-facial-digital syndrome type 11 type
Ophthalmoplegia-hypotonia-ataxia- 141327 Oral-facial-digital syndrome type 12 Orofaciodigital syndrome, Gabrielli
1186 141000
hypoacusis-athetosis syndrome 141330 Oral-facial-digital syndrome type 13 type
Ophthalmoplegia-intellectual 434179 Oral-facial-digital syndrome type 14 Orofaciodigital syndrome, Thurston
2743 2919
disability-lingua scrotalis syndrome 508501 Oral-facial-digital syndrome type 18 type
1308 Opitz C trigonocephaly Oral-facial-digital syndrome with 93958 Oromandibular dystonia
141007 141077 Oropharyngeal teratoma
2745 Opitz G/BBB syndrome retinal abnormalities
2745 Opitz syndrome 30 Orotidylic decarboxylase deficiency
64692 Oroya fever
ORPHA ORPHA ORPHA
Orthostatic intolerance due to NET 216820 Osteogenesis imperfecta type 4 2791 Otodental dysplasia
443236
deficiency 216828 Osteogenesis imperfecta type 5 2791 Otodental syndrome
→293843 OSA syndrome Osteogenesis imperfecta-congenital 2792 Otofaciocervical syndrome
2771
93382 Osebold-Remondini syndrome joint contractures syndrome 141136 Otomandibular dysostosis
97335 Osgood-Schlatter disease Osteogenesis imperfecta- 141136 Otomandibular syndrome
2760 OSLAM syndrome 2773 retinopathy-seizures-intellectual 2793 Otoonychoperoneal syndrome
729 Osler-Vaquez disease disability syndrome 90650 Otopalatodigital syndrome type 1
1427 OSMED 668 Osteogenic sarcoma 90652 Otopalatodigital syndrome type 2
357154 OSMF 2645 Osteoglophonic dwarfism Otospondylomegaepiphyseal
2645 Osteoglosphonic dysplasia 1427
140436 Osseous venous malformation dysplasia
Ossification anomalies-psychomotor 2777 Osteomesopyknosis 457252 OTSCC
73230
developmental delay syndrome 824 Osteomyelofibrosis 69082 OTUDP syndrome
57196 Osteitis condensans of the clavicle 399293 Osteonecrosis of the jaw 500062 OTULIN deficiency
58040 Osteoblastoma Osteopathia striata-cranial sclerosis OTULIN-related autoinflammatory
2780 500062
2764 Osteochondritis dissecans syndrome syndrome
Osteochondritis dissecans and short Osteopathia striata-pigmentary 500062 Otulipenia
251262 2779 dermopathy-white forelock
stature 50943 Oudtshoorn disease
Osteochondritis of phalangeal syndrome 1179 Ouvrier-Billson syndrome
3314 Osteopenia-intellectual disability-
epiphyses 2324 213504 Ovarian adenocarcinoma
Osteochondritis of tarsal/metatarsal sparse hair syndrome
2054 213512 Ovarian carcinosarcoma
bone Osteopenia-myopia-hearing loss-
398971 Ovarian clear cell adenocarcinoma
Osteochondritis of the capital 91133 intellectual disability-facial
2380 314473 Ovarian fibroma
femoral epiphysis dysmorphism syndrome
314478 Ovarian fibrothecoma
97332 Osteochondritis of the lunate bone Osteopetrosis autosomal dominant
53 64739 Ovarian hyperstimulation syndrome
Osteochondritis of the tibial type 2
97335 398987 Ovarian immature teratoma
tubercle Osteopetrosis with renal tubular
2785 Ovarian malignant mixed epithelial
Osteochondrodysplatic dwarfism- acidosis 213512
Osteopetrosis- mesenchymal tumor
2653 deafness-retinitis pigmentosa 178389
hypogammaglobulinemia syndrome Ovarian malignant mixed Müllerian
syndrome 213512
Osteopoikilosis-short stature- tumor
Osteochondrodysplatic nanism- 94063
intellectual disability syndrome Ovarian malignant Sertoli-Leydig
2653 deafness-retinitis pigmentosa 99916
Osteoporosis-macrocephaly- cell tumor
syndrome
2787 blindness-joint hyperlaxity 398987 Ovarian malignant teratoma
800 Osteochondromuscular dystrophy
syndrome 398961 Ovarian mucinous adenocarcinoma
2768 Osteochondrosis deformans tibiae
Osteoporosis-oculocutaneous 99916 Ovarian Sertoli-Leydig cell cancer
97337 Osteochondrosis of patella 2786
hypopigmentation syndrome Ovarian tumor of low malignant
Osteochondrosis of phalangeal 206473
3314 Osteoporosis-pseudoglioma potential
epiphyses 2788
syndrome 99853 Ovarioleukodystrophy
Osteochondrosis of the capital
2380 666 Osteopsathyrosis Overgrowth syndrome with 2q37
femoral epiphysis 498488
521127 Osteoradionecrosis of the mandible translocation
Osteochondrosis of the capital
97336 668 Osteosarcoma Overgrowth-macrocephaly-facial
humerus 137634
Osteosarcoma-limb anomalies- dysmorphism syndrome
97332 Osteochondrosis of the lunate bone 2760
erythroid macrocytosis syndrome Overgrowth-metaphyseal
2054 Osteochondrosis of the tarsal bone
Osteosclerosis-developmental 498485 undermodeling-spondylar dysplasia
Osteochondrosis of the tibial 178377 syndrome
97335 delay-craniosynostosis syndrome
tubercle
Osteosclerosis-ichthyosis-premature Overhydrated hereditary
Osteoclastic giant cell tumor of 75325 3203
424080 ovarian failure syndrome stomatocytosis
pancreas
Osteosclerotic metaphyseal 206572 Overlap myositis
363976 Osteoclastoma 500548
dysplasia 326 Owren disease
2763 Osteocraniosplenic syndrome
2905 Osteosclerotic myeloma 832 OXCT1 deficiency
2763 Osteocraniostenosis
Ostravik-Lindemann-Solberg 31 Oxoglutaric aciduria
488265 Osteofibrous dysplasia 1338
syndrome Oxoprolinuria due to oxoprolinase
666 Osteogenesis imperfecta 33572
99965 O'Sullivan-McLeod syndrome deficiency
216796 Osteogenesis imperfecta type 1
664 OTC deficiency Oxysterol 7-alpha-hydroxylase
216804 Osteogenesis imperfecta type 2 79302
1308 OTCS deficiency
216812 Osteogenesis imperfecta type 3 35664 P5CS deficiency
ORPHA ORPHA ORPHA
35120 P5N deficiency Palmoplantar hyperkeratosis, 98815 Panayiotopoulos syndrome
140966
98971 PACD Nagashima type 424046 Pancreatic acinar cell carcinoma
2796 Pachydermoperiostosis Palmoplantar hyperkeratosis-cystic 93292 Pancreatic adenoma
Pachygyria-intellectual disability- 50944 eyelids-hypodontia-hypotrichosis 65288 Pancreatic and cerebellar agenesis
2798
epilepsy syndrome syndrome 97282 Pancreatic cholera
2309 Pachyonychia congenita Palmoplantar hyperkeratosis- 309108 Pancreatic colipase deficiency
2202
1952 Pacman dysplasia deafness syndrome Pancreatic hypoplasia-diabetes-
Palmoplantar hyperkeratosis- 2255
140989 PACNS 2198 congenital heart disease syndrome
477749 PADMAL esophageal carcinoma syndrome Pancreatic insufficiency and bone
Palmoplantar hyperkeratosis- 811
441 PAF 2202 marrow dysfunction
hearing loss syndrome Pancreatic insufficiency-anemia-
95232 PAFAH1B1-related lissencephaly 199337
Palmoplantar hyperkeratosis- hyperostosis syndrome
180275 Paget disease of the breast
2342 periodontopathia-onychogryposis
180275 Paget disease of the nipple Pancreatic intraductal papillary
syndrome 424058
357131 Paget-Schrotter disease mucinous carcinoma
Palmoplantar hyperkeratosis- 506112 Pancreatic MiNEN
Pagetoid amyotrophic lateral 384
52430 sclerodactyly syndrome
sclerosis Pancreatic mixed neuroendocrine-
Palmoplantar hyperkeratosis-spastic 506112
52430 Pagetoid neuroskeletal syndrome 2201 nonneuroendocrine neoplasm
paralysis syndrome
Pagetoid reticulosis, Woringer- Pancreatic mucinous
178517 Palmoplantar hyperkeratosis-XX sex 424053
Kolopp type cystadenocarcinoma
85112 reversal-predisposition to squamous
180275 Paget's disease of the nipple 506098 Pancreatic NEC
cell carcinoma syndrome
991 PAGOD syndrome Pancreatic neuroendocrine
Palmoplantar keratoderma and 506098
1010 carcinoma
2802 Pagon-Bird-Detter syndrome congenital alopecia, Stevanovic type
716 PAH deficiency Pancreatic osteoclastic giant cell
Palmoplantar keratoderma and 424080
1366 tumor
1993 Pai syndrome congenital alopecia, Wallis type
97278 Pancreatic polypeptidoma
37202 Painful bladder syndrome Palmoplantar keratoderma with
34217 Pancreatic serous
324636 Painful bruising syndrome arrythmogenic cardiomyopathy 424073
cystadenocarcinoma
99736 Painful congenital myotonia Palmoplantar keratoderma with
→2199 Pancreatic solid pseudopapillary
99736 Painful myotonia tonotubular keratin 424065
carcinoma
64686 Painful ophthalmoplegia Palmoplantar keratoderma,
140966 424039 Pancreatic squamous cell carcinoma
Painful orbital and systemic Nagashima type
Palmoplantar keratoderma- Pancreatic triacylglycerol lipase
300501 neurofibromas-marfanoid habitus 309031
86919 deficiency
syndrome clinodactyly syndrome
Palmoplantar keratoderma-cystic Pancreatic triglyceride lipase
90797 PAIS 309031
50944 eyelids-hypodontia-hypotrichosis deficiency
Palatal anomalies-multiple Pancreatic undifferentiated
477993 diastemata-facial dysmorphism- syndrome
Palmoplantar keratoderma-
424080 carcinoma with osteoclast-like giant
developmental delay syndrome 2202 cells
Palatal anomalies-widely spaced deafness syndrome
677 Pancreatoblastoma
477993 teeth-facial dysmorphism- Palmoplantar keratoderma-
2198 Pancytopenia due to IKZF1
developmental delay syndrome esophageal carcinoma syndrome 317473
Palmoplantar keratoderma-hearing mutations
Palatodigital syndrome, Catel- 2202
1388 loss syndrome Pancytopenia-developmental delay
Manzke type 401764
Palmoplantar keratoderma- syndrome
163921 PALE
2342 periodontopathia-onychogryposis 66624 PANDAS
171695 Pallidopyramidal syndrome
syndrome 95513 Panhypophysitis
3138 Pallister ulnar-mammary syndrome
Palmoplantar keratoderma- 90695 Panhypopituitarism
672 Pallister-Hall syndrome 384
sclerodactyly syndrome 97336 Panner disease
884 Pallister-Killian syndrome
Palmoplantar keratoderma-spastic Panniculitis-induced localized
2804 Pallister-W syndrome 2201 90159
paralysis syndrome lipodystrophy
Palmar, plantar and disseminated Pantothenate kinase-associated
737 Palmoplantar keratoderma-XX sex
porokeratosis 157850
85112 reversal-predisposition to squamous neurodegeneration
2184 Palmer-Pagon syndrome cell carcinoma syndrome 440427 PAP, Reunion island type
Palmoplantar and periorificial Palmoplantar porokeratosis of 69126 PAPA syndrome
659
keratoderma →79502
Mantoux Papillary carcinoma of the cervix
Palmoplantar hyperkeratosis with 213817
34217 163927 Palmoplantar pustulosis uteri
arrythmogenic cardiomyopathy
767 PAN
ORPHA ORPHA ORPHA
Papillary carcinoma of the corpus Parietal foramina with cleidocranial Partial duplication of chromosome
213726 251290 261318
uteri dysplasia 20p
251962 Papillary glioneuronal tumor 851 Paris-Trousseau thrombocytopenia Partial duplication of the short arm
261318
Papillary or follicular thyroid 306674 PARK9 of chromosome 20
146
carcinoma 199351 PARK14 101046 Partial epilepsy with auditory aura
319298 Papillary renal cell adenocarcinoma 90307 Parkes Weber syndrome Partial epilepsy with auditory
101046
319298 Papillary renal cell carcinoma 171695 Parkinsonian-pyramidal syndrome features
251915 Papillary tumor of the pineal region Parkinsonism with alveolar Partial facial palsy with urinary
2704
1475 Papillo-renal syndrome 178509 hypoventilation and mental abnormalities
2807 Papilloma of choroid plexus depression 93580 Partial factor I deficiency
2750 Papillon-Léage-Psaume syndrome Parkinsonism-dementia-ALS Partial gigantism-nevi-
90020
678 Papillon-Lefèvre syndrome complex 744 hemihypertrophy-macrocephaly
86819 Papular atrichia 90035 Paroxysmal cold hemoglobinuria syndrome
Paroxysmal dystonic choreathetosis 254693 Partial hydatidiform mole
228264 Papular elastorrhexis 53583
Papular epidermal nevi with skyline with episodic ataxia and spasticity 79292 Partial LCAT deficiency
313936 Paroxysmal exertion-induced Partial mevalonate kinase
basal cell layers syndrome 98811 343
90395 Papular mucinosis of infancy dyskinesia deficiency
158008 Papular xanthoma 46348 Paroxysmal extreme pain disorder 254693 Partial molar pregnancy
157835 Paroxysmal hemicrania 2805 Partial pancreatic agenesis
679 Papulosis atrophican maligna
→98784 Paroxysmal hypnagogic dyskinesia 180129 Partial septate uterus
464458 Paracetamol poisoning
99056 Parachute tricuspid valve →98784 Paroxysmal hypnagogic dystonia 157769 Partial situs inversus
→98784 Paroxysmal hypnogenic dyskinesia 261318 Partial trisomy of chromosome 20p
73260 Paracoccidioidomycosis
Paraganglioma and gastric stromal Paroxysmal kinesigenic Partial trisomy of the short arm of
98809 261318
97286 choreathetosis chromosome 20
sarcoma
Paraganglioma-somatostatinoma- 98809 Paroxysmal kinesigenic dyskinesia Partially involuting congenital
458785
324299 Paroxysmal kinesigenic dyskinesia hemangioma
polycythemia syndrome 31709
326 Parahemophilia and infantile convulsions 85453 Partington disease
→98784 Paroxysmal nocturnal dyskinesia 94083 Partington syndrome
141242 Paramedian nasal cleft
Paroxysmal nocturnal →193 Partington-Anderson syndrome
684 Paramyotonia congenita 447
Paramyotonia congenita of Von hemoglobinuria 94083 Partington-Mulley syndrome
684 Paroxysmal non-kinesigenic 295 Parvovirus antenatal infection
Eulenburg 98810
2812 Parana hard skin syndrome dyskinesia Pascual-Castroviejo syndrome type
1394
99889 Paraneoplastic Cushing syndrome Paroxystic non-kinesigenic 1
98810
choreoathetosis Pascual-Castroviejo syndrome type
Paraneoplastic opsoclonus- 42775
1183 1214 Parry-Romberg syndrome 2
myoclonus
574 Partial 21q monosomy 289478 PASH syndrome
Paraneoplastic opsoclonus-
1183 2805 Partial agenesis of the pancreas 1252 Pashayan syndrome
myoclonus-ataxia syndrome
63455 Paraneoplastic pemphigus Partial albinism-immunodeficiency 1252 Pashayan-Prozansky syndrome
381
71505 Paraneoplastic retinopathy syndrome Passwell-Goodman-Siprkowski
2278
279928 Paraneoplastic uveitis Partial androgen insensitivity syndrome
90797
syndrome 3378 Patau syndrome
231445 Paraparetic variant of GBS
Partial androgen resistance Patella aplasia-coxa vara-tarsal
Paraparetic variant of Guillain-Barré 90797 →1509
231445 syndrome synostosis syndrome
syndrome
1330 Partial atrioventricular canal 86789 Patella aplasia/hypoplasia
Paraplegia-intellectual disability-
2824 1330 Partial atrioventricular canal defect Patent arterial duct-bicuspid aortic
hyperkeratosis syndrome 228190
31827 Paraquat poisoning
1646 Partial chromosome Y deletion valve-hand anomalies syndrome
2646 Parastremmatic dwarfism Partial corpus callosum agenesis- Patent ductus arteriosus with facial
401959 cerebellar vermis hypoplasia with 46627 dysmorphism and abnormal fifth
363478 Paratesticular adenocarcinoma
posterior fossa cysts syndrome digits
143 Parathyroid carcinoma
98950 Partial cryptophthalmia Patent ductus arteriosus-bicuspid
443227 Paratyphoid fever
Partial deep dermal and full 228190 aortic valve-hand anomalies
2825 PARC syndrome 90076
thickness burns syndrome
268826 Parietal encephalocele Partial deficiency of methylmalonyl- 431341 Patent urachus
Parietal foramina with clavicular 79312
251290 CoA mutase Paternal 20q13.2q13.3
hypoplasia 261304
microdeletion syndrome
ORPHA ORPHA ORPHA
254525 Paternal del(14)(q32.2) 244 PCD 33402 Pediatric HCC
261304 Paternal del(20)(q13.2q13.3) 178544 PCDLBCL,LT 33402 Pediatric hepatocellular carcinoma
261304 Paternal monosomy 20q13.2q13.3 178540 PCFCL 477738 Pediatric multiple sclerosis
Paternal uniparental disomy of 90035 PCH Pediatric systemic lupus
251004 93552
chromosome 1 2254 PCH1 erythematosus
Paternal uniparental disomy of 2524 PCH2 525731 Pediatric-onset Basedow disease
96190
chromosome 5 97249 PCH3 525731 Pediatric-onset Graves disease
Paternal uniparental disomy of 166063 PCH4 263548 Peeling skin syndrome type A
96191
chromosome 6 166068 PCH5 263553 Peeling skin syndrome type B
Paternal uniparental disomy of 166073 PCH6 263558 Peeling skin syndrome type C
96192
chromosome 7 284339 PCH7 Peeling skin-leukonychia-acral
Paternal uniparental disomy of 324569 PCH8 444138 punctate keratoses-cheilitis-knuckle
99324
chromosome 13 pads syndrome
369920 PCH9
Paternal uniparental disomy of 2836 PEHO syndrome
96194 97249 PCH with optic atrophy
chromosome 20 99807 PEHO-like syndrome
97249 PCH without dyskinesia
Paternal uniparental disomy of 48686 PEL
96195 411493 PCH10
chromosome 21 Pelizaeus-Merzbacher brain
71528 PCI deficiency 702
Paternal uniparental disomy of sclerosis
261524 454714 PCL
chromosome X 702 Pelizaeus-Merzbacher disease
96194 2924 PCLD
Paternal UPD(20) Pelizaeus-Merzbacher disease in
Patterson pseudoleprechaunism 178536 PCMZL 280229
2976 female carriers
syndrome PCNA-related progressive
438134 neurodegenerative photosensitivity Pelizaeus-Merzbacher disease type
2976 Patterson syndrome 280210
syndrome II
2439 Patterson-Stevenson syndrome Pelizaeus-Merzbacher disease,
Patterson-Stevenson-Fontaine
46135 PCNSL 280219
2439 classic form
140989 PCNSV
syndrome Pelizaeus-Merzbacher disease,
79136 PATX 101330 PCT 280210
connatal form
93126 Pauci-immune glomerulonephritis 163746 PCWH
Pelizaeus-Merzbacher disease, null
90020 PDALS 280234
Pauci-immune glomerulonephritis syndrome
97563 293462 PDCD
with ANCA Pelizaeus-Merzbacher disease,
289157 PDDRI 280224
Pauci-immune glomerulonephritis transitional form
97563 with antineutrophil cytoplasmic 439822 PDE4D haploinsufficiency syndrome 280270 Pelizaeus-Merzbacher-like disease
antibody 765 PDH Pelizaeus-Merzbacher-like disease
Pauci-immune glomerulonephritis 79246 PDH phosphatase deficiency 280293
97564 due to AIMP1 mutation
without ANCA 79243 PDHAD Pelizaeus-Merzbacher-like disease
Pauci-immune glomerulonephritis 280282
255138 PDHBD due to GJC2 mutation
97564 without antineutrophil cytoplasmic 765 PDHC Pelizaeus-Merzbacher-like disease
antibody 280288
2796 PDP due to HSPD1 mutation
85410 Pauciarticular chronic arthritis 85453 97352 Pellagra
PDR
Pauciarticular chronic arthritis with 75496 PDS Pellagra-like skin rash-neurological
247839 →220295
anti-nuclear antibodies 699 Pearson syndrome manifestations syndrome
Pauciarticular chronic arthritis Pectus excavatum-macrocephaly- 137672 Pellucid marginal degeneration
247846
without anti-nuclear antibodies 2835
dysplastic nails syndrome Pelvic dysplasia-arthrogryposis of
1330 PAVC 2840
98811 PED lower limbs syndrome
2038 PAVM 83628 PELVIS syndrome
439175 Pediatric AIS
186 PBC 2839 Pelvis-shoulder dysplasia
439175 Pediatric arterial ischemic stroke
75373 PBCRA Pediatric autoimmune disorders 93333 Pelviscapular dysplasia
289666 PBL 66624 associated with Streptococcus 63275 Pemphigoid gestationis
2309 PC infections 79480 Pemphigus erythematosus
54247 PCA Pediatric autoimmune 79481 Pemphigus foliaceus
88628 PCARP neuropsychiatric disorders 79479 Pemphigus vegetans
66624
231426 PCB variant of GBS associated with Streptococcus 704 Pemphigus vulgaris
PCB variant of Guillain-Barré infections 994 Pena-Shokeir syndrome type 1
231426
syndrome 93682 Pediatric Castleman disease 1466 Pena-Shokeir syndrome type 2
247198 PCCA 487809 Pediatric collagenous gastritis 705 Pendred syndrome
ORPHA ORPHA ORPHA
398053 Penile adenocarcinoma Peripheral demyelinating Persistent left superior vena cava
99109
49 Penile agenesis neuropathy-central dysmyelinating connecting to the left-sided atrium
163746
398058 Penile squamous cell carcinoma leukodystrophy-Waardenburg Persistent left SVC connecting to the
99109
49 Penis agenesis syndrome-Hirschsprung disease left-sided atrium
2842 Penoscrotal transposition 1795 Peripheral dysostosis 2856 Persistent Müllerian derivatives
313936 PENS syndrome 252164 Peripheral fibroblastoma 2856 Persistent Müllerian duct syndrome
11 Penta-X Peripheral motor neuropathy- 97341 Persistent placoid maculopathy
2400
1335 Pentalogy of Cantrell dysautonomia syndrome Persistent polyclonal B-cell
300324
11 Pentasomy X
84142 Peripheral nerve hyperexcitability lymphocytosis
2843 Pentosuria Peripheral neuroectodermal cancer Persistent polyclonal B-cell
213812
of cervix uteri 300324 lymphocytosis with binucleated
PEO-myopathy-emaciation
352447 Peripheral neuroectodermal cancer lymphocytes
syndrome 213630
of the corpus uteri 2380 Perthes disease
2905 PEP syndrome
Peripheral neuropathy and optic 1489 Pertussis
2880 PEPCK deficiency 90120
atrophy 708 Peters anomaly
2576 Perheentupa syndrome
Peripheral neuropathy, Fiskerstrand Peters anomaly with short limb
767 Periarteritis nodosa 171848 709
type dwarfism
Pericardial and diaphragmatic Peripheral neuropathy-myopathy-
2847 708 Peters congenital glaucoma
defect 397744
hoarseness-deafness syndrome 709 Peters plus syndrome
Pericardial constriction-growth Peripheral neuropathy-myopathy-
2576 2776 Petit-Fryns syndrome
failure syndrome 397744
hoarseness-hearing loss syndrome 2963 Petty syndrome
Pericarditis-arthropathy- 370348 Peripheral PNET
2848 2963 Petty-Laxova-Wiedemann syndrome
camptodactyly syndrome
Peripheral primitive 2869 Peutz-Jeghers syndrome
137577 Perinatal asphyxia 370348
neuroectodermal tumor
137577 Perinatal hypoxia 42642 PFAPA syndrome
99084 Peripheral pulmonary stenosis
313855 Perinatal lethal bent bone dysplasia 1980 PFBC
Peripheral resistance to thyroid
85212 Perinatal lethal Gaucher disease 97927 90042 PFCP
hormones
247623 Perinatal lethal hypophosphatasia 412206 PFE
168816 Peritoneal cystic mesothelioma
Perinatal lethal 710 Pfeiffer syndrome
247623 171676 Periventricular leukomalacia
phosphoethanolaminuria 93258 Pfeiffer syndrome type 1
98892 Periventricular nodular heterotopia
247623 Perinatal lethal Rathburn disease 93259 Pfeiffer syndrome type 2
2849 Perlman syndrome
Perineal hemangioma-external 93260 Pfeiffer syndrome type 3
438266 PERM
genitalia malformations- 3224 Pfeiffer-Kapferer syndrome
Permanent neonatal diabetes
83628 lipomyelomeningocele-vesicorenal 99885 2921 Pfeiffer-Mayer syndrome
mellitus
abnormalities-imperforate anus-skin 2871 Pfeiffer-Palm-Teller syndrome
tag syndrome Permanent neonatal diabetes
65288 mellitus-pancreatic and cerebellar 2872 Pfeiffer-Singer-Zschiesche syndrome
Perineal, scrotal or penoscrotal 33577 Pfeiffer-Weber-Christian syndrome
95706 agenesis syndrome
hypospadias 2019 PFFD
Perniola-Krajewska-Carnevale
65250 Perineural cyst 2850
syndrome 172 PFIC
342 Periodic disease
Peroxisomal acyl-CoA oxidase 79306 PFIC1
Periodic fever-aphtous stomatitis- 2971
42642 deficiency 79304 PFIC2
pharyngitis-adenopathy syndrome
Peroxisomal alanine-glyoxylate 79305 PFIC3
Periodic fever-infantile 93598
aminotransferase deficiency 480483 PFIC4
436166 enterocolitis-autoinflammatory
2855 Perrault syndrome 480476 PFIC5
syndrome
75374 PERRS 91495 PFVS
→682 Periodic paralysis type 3
178509 Perry syndrome 397937 PGBM1
Periodic paralysis with later-onset
397750 99120 Persistent eustachian valve 319646 PGM1-CDG
distal motor neuropathy
Periodic paralysis with transient Persistent fetal vasculature PGM1-related congenital disorder of
91495 319646
397755 syndrome glycosylation
compartment-like syndrome
79136 Periodic vestibulocerebellar ataxia
99076 Persistent fifth aortic arch 443811 PGM3-CDG
139426 Perioral myoclonia with absences Persistent hyperplastic primary PGM3-related congenital disorder of
91495 443811
vitreous glycosylation
519400 Peripapillary staphyloma
398147 Persistent idiopathic facial pain 251962 PGNT
563 Peripartum cardiomyopathy
Persistent left superior caval vein 1214 PHA
99109
connecting to the left-sided atrium 757 PHA2
ORPHA ORPHA ORPHA
88938 PHA2A Phocomelia-thrombocytopenia- Pierre Robin syndrome-
88939 PHA2B encephalocele-urogenital
3439 1388 hyperphalangy-clinodactyly
88940 PHA2C malformations syndrome syndrome
300525 PHA2D Phosphatidylinositol 4,5- 2670 Pierson syndrome
300530 PHA2E 534 biphosphate 5-phosphatase 398147 PIFP
756 PHA type 1 deficiency 217557 PIG
42775 PHACE syndrome Phosphoenolpyruvate 99908 Pigeon-breeder lung disease
2880
carboxykinase deficiency 488635 PIGG-CDG
209959 Phacoallergic endophthalmitis
436 Phosphoethanolaminuria 3474
209959 Phacoanaphylactic uveitis PIGL-CDG
→319646 Phosphoglucomutase 1 deficiency 83639 PIGM-CDG
209959 Phacoantigenic endophthalmitis
319646 Phosphoglucomutase-1 deficiency Pigment anomaly-ectrodactyly-
757 PHAII 978
Phospholipase A2-associated hypodontia syndrome
Phako-anaphylactic 35069
209959 neurodegeneration Pigmentary disorder with hearing
endophthalmitis 999
79318 Phosphomannomutase 2 deficiency loss
79483 Phakomatosis cesioflammea
Phosphomannose isomerase 64755 Pigmentary hairy epidermal nevus
79484 Phakomatosis cesiomarmorata 79319
deficiency 435 Pigmentary mosaicism, Ito type
2874 Phakomatosis pigmentokeratotica
Phosphoribosylpyrophosphate Pigmentary orthochromatic
2875 Phakomatosis pigmentovascularis 3222 313808
synthetase superactivity leukodystrophy
Phakomatosis pigmentovascularis Phosphoserine aminotransferase
79483 Pigmentary retinopathy-intellectual
type 2 284417 →193
deficiency disability syndrome
Phakomatosis pigmentovascularis 166409 Photosensitive epilepsy
79485 Pigmentation defects-palmoplantar
type 3
91495 PHPV 447961 keratoderma-skin carcinoma
Phakomatosis pigmentovascularis
79484 30924 PHSH syndrome
type 5
180261 Phyllodes tumor of the breast Pigmented hypertrichosis with
79485 Phakomatosis spilorosea
498228 Phyllodes tumor of the prostate →168569 insulin-dependent diabetes mellitus
352636 Phalangeal microgeodic syndrome
Phytanic-CoA hydroxylase syndrome
352636 Phalangeal osteolysis 773
deficiency Pigmented paravenous
171848 PHARC syndrome 251295
2882 Phytosterolemia retinochoroidal atrophy
Pharyngeal-cervical-brachial variant 66627 Pigmented villonodular synovitis
231426 →33364 PIBIDS syndrome
of Guillain-Barré syndrome
505 Piccardi-Lassueur-Little syndrome 280633 PIGN-CDG
Pharyngeal-cervical-brachial
231426 Piebald trait-neurologic defects 369837 PIGT-CDG
weakness 2885
syndrome 480506 PIHL
Pharyngo-cervico-brachial variant of
231426 2884 Piebaldism 529965 Pilarowski-Bjornsson syndrome
GBS
→1263 Piepkorn dysplasia 169 Pili annulati
Pharyngo-cervico-brachial variant of
231426 487825 Pierpont syndrome 720 Pili bifurcati
Guillain-Barré syndrome
2876 PHAVER syndrome 1566 Pierquin syndrome 79492 Pili gemini
228410 PHD syndrome Pierre Robin sequence-congenital 79492 Pili multigemini
2886
48652 Phelan-McDermid syndrome heart defect-talipes syndrome 2889 Pili torti
1919 Phenobarbital embryopathy Pierre Robin sequence-faciodigital Pili torti-developmental delay-
2888
anomaly syndrome 2891 neurological abnormalities
84064 Phenotypic diarrhea
Pierre Robin sequence-fetal syndrome
Phenylalanine hydroxylase 3450
716 chondrodysplasia syndrome 2890 Pili torti-onychodysplasia syndrome
deficiency
Pierre Robin sequence- 1410 Pili trianguli et canaliculi
716 Phenylketonuria
1388 hyperphalangy-clinodactyly 2741 Pillay syndrome
226 Phenylketonuria type 2 syndrome 251612 Pilocytic astrocytoma
2209 Phenylketonuric embryopathy Pierre Robin sequence-oligodactyly
1912 Phenytoin embryofetopathy 3104 Pilodental dysplasia-refractive
syndrome 2892
errors syndrome
→168569 PHID Pierre Robin syndrome-congenital
2886 91414 Pilomatricoma
Phlebectatic osteohypoplastic heart defect-talipes syndrome
75508 499182 Pilomatrix carcinoma
angiodysplasia Pierre Robin syndrome-faciodigital
2888 228379 Pilomatrix dysplasia
69084 PHNED anomaly syndrome
91414 Pilomatrixoma
2879 Phocomelia, Schinzel type Pierre Robin syndrome-fetal
3450 251615 Pilomyxoid astrocytoma
Phocomelia-ectrodactyly-deafness- chondrodysplasia syndrome
2878 Pineal parenchymal tumor of
sinus arrhythmia syndrome 251919
intermediate differenciation
251909 Pineoblastoma
ORPHA ORPHA ORPHA
251912 Pineocytoma 300359 PLAID 99935 Pleuropulmonary blastoma type 3
49382 Pingelapese blindness Plamoplantar hyperkeratosis PLIN1-related familial partial
79141 280356
Pinheiro-Freire Maia-Miranda nummularis lipodystrophy
3353
syndrome Plamoplantar keratoderma 280356 PLIN1-related FPLD
79141
247165 Pink disease nummularis 2770 PLO-SL
155838 Pinnae fistula or cyst 35069 PLAN 2770 PLOSL
→2510 Pinsky-Di George-Harley syndrome 199251 Plantar fibromatosis 2375 Plott syndrome
279904 PIOL 251515 Plantar flexion contracture 280234 PLP1 null syndrome
→79189 Pipecolic acidemia Plantar lipomatosis-facial 678 PLS
2896 Pitt-Hopkins syndrome 487825 dysmorphism-developmental delay 35689 PLS
221150 Pitt-Hopkins-like syndrome syndrome 99969 PLS
→280 Pitt-Rogers-Danks syndrome Plantar lipomatosis-unusual facies- 85166 PLSD-T
487825
93395 Pitt-Williams brachydactyly developmental delay syndrome 330015 Plumbism
158769 Plaque-form urticaria pigmentosa
251623 Pituicytoma 54028 Plummer-Vinson syndrome
95613 Pituitary apoplexy
454714 Plasma cell leukemia 732 PM
29073 Plasma cell myeloma
300385 Pituitary carcinoma 764 PM
Pituitary corticotroph micro- Plasma thromboplastin antecedent 454706 PMA
329
96253 deficiency
adenoma 702 PMD
289666 Plasmablastic lymphoma
Pituitary deficiency due to empty 2856 PMDS
91354 86855 Plasmacytoma
sella turcica syndrome 308 PME type 1
Pituitary deficiency due to Rathke's 722 Plasminogen deficiency type 1
91350 501 PME type 2
cleft cysts 439881 Plastic bronchitis
263516 PME type 3
Pituitary dermoid and epidermoid 721 Platelet alpha-granule deficiency
91351 402082 PME type 5
cysts Platelet dysfunction due to cytosolic
477787 280620 PME type 6
99725 Pituitary gigantism phospholipase-A2 alpha deficiency
435438 PME type 7
2965 Pituitary lactotrophic adenoma Platelet type-von Willebrand
52530 424027 PME type 8
Pituitary resistance to thyroid disease
165994 457265 PME type 9
hormone 79434 Platinum oculocutaneous albinism
Platyspondylic dysplasia, Torrance
352596 PMED
Pituitary stalk interruption 85166
95496 217260 PML
syndrome type
Platyspondylic dysplasia, Torrance- 280270 PMLD
91347 Pituitary thyrotrophic adenoma 85166
Luton type 280282 PMLD1
95613 Pituitary tumor apoplexy
Platyspondylic lethal skeletal 79318 PMM2-CDG
Pituitary-dependent Cushing 85166
96253 dysplasia, Torrance type 26790 PMP
syndrome
2897 Pityriasis rubra pilaris Platyspondyly-amelogenesis PMP2-related Charcot-Marie-Tooth
2899 476394
imperfecta syndrome disease type 1
Piussan-Lenaerts-Mathieu
1078 PLCG2-associated antibody PMP2-related Charcot-Marie-Tooth
syndrome 476394
300359 deficiency and immune neuropathy type 1
2869 PJS
dysregulation 476394 PMP2-related CMT1
157850 PKAN
137810 PLCNA PMP2-related hereditary motor and
216873 PKAN, atypical form 476394
99969 Pleomorphic liposarcoma sensory neuropathy type 1
216866 PKAN, classic form
293199 Pleomorphic rhabdomyosarcoma PMP22-RAI1 contiguous gene
238455 PKDYS 477817
Pleomorphic salivary gland duplication syndrome
716 PKU 454821
adenoma 500533 PMSE syndrome
226 PKU type 2
251607 Pleomorphic xanthoastrocytoma 99885 PNDM
PLA2G4A-related platelet 64741 Pneumoblastoma
477787 449266 Pleural empyema
dysfunction
50251 Pleural mesothelioma 55655 Pneumococcal meningitis
PLA2G6-related dystonia-
199351 99131 Pleuro-pericardial cyst 723 Pneumocystosis
parkinsonism
Pleuro-pulmonary blastoma familial Pneumonia caused by Pseudomonas
PLAA-associated 284343 90066
521426 tumor susceptibility syndrome aeruginosa infection
neurodevelopmental disorder
64742 Pleuropulmonary blastoma 447 PNH
521426 PLAAND
Pleuropulmonary blastoma familial 760 PNP deficiency
439167 Placental insufficiency 284343
tumor susceptibility syndrome 760 PNPase deficiency
99928 Placental site trophoblastic tumor
99933 Pleuropulmonary blastoma type 1 79096 PNPO deficiency
444138 PLACK syndrome
99934 Pleuropulmonary blastoma type 2
707 Plague
ORPHA ORPHA ORPHA
PNPO-related neonatal epileptic 2917 Polydactyly-myopia syndrome 308552 Pompe disease, infantile onset
79096
encephalopathy 180229 Polyembryoma 420429 Pompe disease, late-onset
246 POADS Polyendocrine-polyneuropathy 99748 Pontiac fever
453533
2905 POEMS syndrome syndrome Pontine autosomal dominant
2762 POH 93308 Polyepiphyseal dysplasia type 1 477749 microangiopathy with
2908 Poikiloderma of Kindler 93307 Polyepiphyseal dysplasia type 4 leukoencephalopathy
Poikiloderma of Rothmund- 93311 Polyepiphyseal dysplasia type 5 269229 Pontine tegmental cap dysplasia
2909
Thomson 397937 Polyglucosan body myopathy type 1 Pontocerebellar hypoplasia due to
324569
Poikiloderma of Rothmund- 456369 Polyglucosan body myopathy type 2 CHMP1A mutation
221008
Thomson type 1 Polyhydramnios-megalencephaly- 2254 Pontocerebellar hypoplasia type 1
500533
Poikiloderma of Rothmund- symptomatic epilepsy syndrome 2524 Pontocerebellar hypoplasia type 2
221016
Thomson type 2 180182 Polymastia 97249 Pontocerebellar hypoplasia type 3
221046 Poikiloderma with neutropenia Polymerase proofreading-related 166063 Pontocerebellar hypoplasia type 4
447877
Poikiloderma with neutropenia, adenomatous polyposis 166068 Pontocerebellar hypoplasia type 5
221046
Clericuzio type Polymicrogyria due to TUBB2B 166073 Pontocerebellar hypoplasia type 6
300573
Poikiloderma-alopecia- mutation 284339 Pontocerebellar hypoplasia type 7
2825
retrognathism-cleft palate syndrome Polymicrogyria with optic nerve 324569 Pontocerebellar hypoplasia type 8
250972
221043 POIKTMP syndrome hypoplasia 369920 Pontocerebellar hypoplasia type 9
279947 POIS 64745 Polymorphic eruption of pregnancy 411493 Pontocerebellar hypoplasia type 10
130 Pokkuri death syndrome Polymorphic vitelline macular Pontocerebellar hypoplasia-46,XY
1243
2911 Poland anomaly degeneration 284339 disorder of sex development
2911 Poland sequence 93569 Polymyalgia rheumatica syndrome
2911 Poland syndrome 732 Polymyositis Poorly differentiated
313808 POLD Polyneuropathy associated with 284400 neuroendocrine carcinoma of the
2912 Poliomyelitis 639 IgM monoclonal gammapathy with bladder
Poliomyelitis in patients with anti-MAG Poorly differentiated
330009
immunodeficiencies deemed at risk Polyneuropathy-endocrinopathy- 213777 neuroendocrine carcinoma of the
2905
→33364 Pollitt syndrome plasma cell dyscrasia syndrome cervix uteri
11 Poly-X Polyneuropathy-hand defect Poorly differentiated
2926
767 Polyarteritis nodosa syndrome 213731 neuroendocrine carcinoma of the
29207 Polyarthritis enterica Polyneuropathy-hearing loss-ataxia- corpus uteri
171848 retinitis pigmentosa-cataract Poorly differentiated
85435 Polyarthritis with rheumatoid factor
syndrome 213731 neuroendocrine carcinoma of the
Polyarthritis without rheumatoid
85408 Polyneuropathy-intellectual endometrium
factor
2928 disability-acromicria-premature Poorly differentiated
Polyarthritis without rheumatoid 213777
247854 menopause syndrome neuroendocrine cervical carcinoma
factor with anti-nuclear antibodies
93276 Polyostotic fibrous dysplasia Poorly differentiated thymic
Polyarthritis without rheumatoid 263339
160148 Polypoid prolapsing folds neuroendocrine carcinoma
247861 factor without anti-nuclear
antibodies 2869 Polyps and spots syndrome Poorly-differentiated NEN of
506098
Polyradiculoneuropathy associated pancreas
450322 Polyclonal hyperviscosity syndrome
with IgG/IgA/IgM monoclonal Poorly-differentiated
Polycystic lipomembranous 208981
gammopathy without known 506098 neuroendocrine neoplasm of
2770 osteodysplasia with sclerosing
antibodies pancreas
leukoencephalopathy
141091 Polyrhinia Poorly-differentiated pancreatic
Polycystic ovaries-urethral sphincter 506098
2795 141091 Polyrrhinia NEN
dysfunction syndrome
93338 Polysyndactyly Poorly-differentiated pancreatic
729 Polycythemia rubra vera 506098
93405 Polysyndactyly, Haas type neuroendocrine neoplasm
729 Polycythemia vera
Polysyndactyly-cardiac 1300 Popliteal web syndrome
93339 Polydactyly of a biphalangeal thumb 2934
malformation syndrome 95699 POR deficiency
Polydactyly of a triphalangeal
93336 Polyvalvular heart disease 666 Porak and Durante disease
thumb 228410
syndrome 95699 PORD
93337 Polydactyly of an index finger
139426 POMA 2940 Porencephaly
Polydactyly postaxial with median
2919 1183 POMA syndrome Porencephaly-cerebellar hypoplasia-
cleft of upper lip 2941
71526 POMC deficiency internal malformations syndrome
Polydactyly-cleft lip/palate-
2754 365 Pompe disease
psychomotor retardation syndrome
ORPHA ORPHA ORPHA
Porencephaly-microcephaly- Posterior polymorphous corneal PPI-responsive esophageal
98973 411696
306547 bilateral congenital cataract dystrophy eosinophilia
syndrome 98973 Posterior polymorphous dystrophy 411696 PPIRee
370022 Poretti-Boltshauser syndrome 93110 Posterior urethral valve 494 PPK mutilans and deafness
735 Porokeratosis of Mibelli 48435 Postinfectious vasculitis 79141 PPK nummularis
Porokeratosis plantaris palmaris et Postlingual non-syndromic genetic 86923 PPK, Gamborg-Nielsen type
737 216452
disseminata deafness 140966 PPK, Nagashima type
166286 Porokeratotic eccrine nevus Postnatal microcephaly-infantile 1010 PPK-CA, Stevanovic type
Porokeratotic eccrine ostial and hypotonia-spastic diplegia- 1366 PPK-CA, Wallis type
166286 477673
dermal duct nevus dysarthria-intellectual disability 2202 PPK-deafness syndrome
101330 Porphyria cutanea tarda syndrome 79501 PPKP1
443057 Porphyria cutanea tarda type I 279947 Postorgasmic illness syndrome 79502 PPKP2
443062 Porphyria cutanea tarda type II 563 Postpartum cardiomyopathy 38 PPKP3
Porphyria due to ALA dehydratase 443173 Postpartum psychosis
100924 308013 PPKP3 without elastoidosis
deficiency 2942 Postpolio sequelae 3077 PPM-X
100924 Porphyria due to ALAD deficiency 2942 Postpolio syndrome 189439 PPNAD
Porphyria due to delta- 2942 Postpoliomyelitic syndrome 370348 PPNET
100924 aminolevulinate dehydratase 2942 Postpoliomyelitis sequelae 97278 PPoma
deficiency 2942 Postpoliomyelitis syndrome 163927 PPP
100924 Porphyria of Doss Postsynaptic congenital myasthenic
98913 308013 PPPK3 without elastoidosis
79473 Porphyria variegata syndromes
79502 PPPP
Port-wine nevi-mega cisterna Posttransplant acute limbic
2703 163921 251295 PPRCA
magna-hydrocephalus syndrome encephalitis
398980 PPSPC
Post-transplant lymphoproliferative Postural orthostatic tachycardia
70568 443236 324977 PRAAS
disease syndrome due to NET deficiency
Postanginal sepsis secondary to 238606 POT
739 Prader-Labhart-Willi syndrome
137839 Prader-Willi habitus-osteopenia-
orophyngeal infection Potassium-sensitive normokalemic 3409
→682 camptodactyly syndrome
246 Postaxial acrodysostosis periodic paralysis
246 Postaxial acrofacial dysostosis 640 Potato-grubbing palsy
739 Prader-Willi syndrome
93334 Postaxial polydactyly type A 1713 Potocki-Lupski syndrome Prader-Willi syndrome due to a
398069
93335 Postaxial polydactyly type B point mutation
52022 Potocki-Shaffer syndrome
Postaxial polydactyly-anterior Prader-Willi syndrome due to
443236 POTS due to NET deficiency 177910
420584 pituitary anomalies-facial imprinting mutation
Potter sequence-cleft lip/palate-
dysmorphism syndrome 3316 Prader-Willi syndrome due to
cardiopathy syndrome
98754 maternal uniparental disomy of
Postaxial polydactyly-dental and 217067 Pouchitis
2916 chromosome 15
vertebral anomalies syndrome 2876 Powell-Chandra-Saal syndrome
Postaxial polydactyly-intellectual Prader-Willi syndrome due to
2201 Powell-Venencie-Gordon syndrome 98793
2920 paternal 15q11q13 deletion
disability syndrome 314566 PPAOS
Postaxial syndactyly with Prader-Willi syndrome due to
93406 447877 PPAP 177901 paternal deletion of 15q11q13 type
metacarpal synostosis
PPARG-related familial partial 1
2730 Postaxial tetramelic oligodactyly 79083
lipodystrophy Prader-Willi syndrome due to
Postcardiotomy right ventricular 79083 PPARG-related FPLD
263352 177904 paternal deletion of 15q11q13 type
failure
PPB familial tumor susceptibility 2
97349 Postencephalitic parkinsonism 284343
syndrome Prader-Willi syndrome due to
Posterior amorphous corneal 177907
98971 284343 PPBFTDS translocation
dystrophy
300324 PPBL 398073 Prader-Willi-like syndrome
Posterior amorphous stromal
98971 168829 PPC Prader-Willi-like syndrome due to a
dystrophy 398079
98973 PPCD point mutation
Posterior column ataxia-retinitis
88628 93339 PPD1 Prader-Willi-like syndrome due to
pigmentosa syndrome 171829
93336 PPD2 deletion 6q16
54247 Posterior cortical atrophy
93337 PPD3 2956 Prata-Liberal-Goncalves syndrome
Posterior fusion of lumbosacral
2064 93338 PPD4 293462 Pre-Descemet corneal dystrophy
vertebrae-blepharoptosis syndrome
75567 PPFG 245 Preaxial acrodysostosis
95706 Posterior hypospadias
411696 PPI-REE Preaxial deficiency-postaxial
268810 Posterior meningocele 2957
polydactyly-hypospadias syndrome
ORPHA ORPHA ORPHA
93339 Preaxial polydactyly type 1 Presynaptic congenital myasthenic Primary cutaneous CD4+
98914
93336 Preaxial polydactyly type 2 syndromes 178522 small/medium-sized pleomorphic T-
93337 Preaxial polydactyly type 3 79410 Pretibial DEB cell lymphoma
93338 Preaxial polydactyly type 4 Pretibial dystrophic epidermolysis Primary cutaneous diffuse large B-
79410 178544
Preaxial polydactyly-colobomata- bullosa cell lymphoma, leg type
2921 Primary cutaneous epidermotropic
intellectual disability syndrome 2958 Prieto-Badia-Mulas syndrome 178528
1309 Precalicial canalicular ectasia 1451 Prieur-Griscelli syndrome cytotoxic CD8+ T-cell lymphoma
Precursor B-cell acute lymphoblastic 945 Primary acalvaria Primary cutaneous follicle center
99860 178540
leukemia 930 Primary achalasia lymphoma
Precursor B-cell acute lymphoblastic Primary acquired sideroblastic Primary cutaneous gamma/delta-
99860 75564 178533
leukemia/lymphoma anemia positive T-cell lymphoma
Precursor B-cell acute lymphocytic 85138 Primary Addison's disease Primary cutaneous marginal zone B-
99860 178536
leukemia Primary adrenal insufficiency- cell lymphoma
Precursor B-cell acute lymphocytic 506334 steroid-resistant nephrotic Primary cutaneous peripheral T-cell
99860 86885
leukemia/lymphoma syndrome due to SGPL1 deficiency lymphoma NOS
Precursor T-cell acute lymphoblastic 874 Primary adult heart tumor Primary cutaneous peripheral T-cell
99861 86885
leukemia 85443 Primary amyloidosis lymphoma not otherwise specified
Precursor T-cell acute lymphoblastic 451602 Primary cutaneous plasmacytosis
228272 Primary anetoderma
99861 Primary cutaneous unspecified
leukemia/lymphoma Primary angiitis of the central 86885
140989 peripheral T-cell lymphoma
Precursor T-cell acute lymphocytic nervous system
99861 Primary dystonia with mixed
leukemia 1572 Primary antibody deficiency 98807
Precursor T-cell acute lymphocytic phenotype
99861 522037 Primary autoimmune enteropathy
leukemia/lymphoma 99657 Primary dystonia, DYT2 type
2285 Primary basilar invagination
Predisposition to adult-onset 98805 Primary dystonia, DYT4 type
Primary bilateral macronodular
488280 myeloproliferative neoplasm due to 189427 98806 Primary dystonia, DYT6 type
adrenal hyperplasia
14q32 duplication 186 Primary biliary cholangitis
98807 Primary dystonia, DYT13 type
Predisposition to invasive fungal 186 Primary biliary cirrhosis
370103 Primary dystonia, DYT17 type
457088
disease due to CARD9 deficiency 306734 Primary dystonia, DYT21 type
Primary biliary cirrhosis and
275555 Preeclampsia 779 464440 Primary dystonia, DYT27 type
systemic scleroderma
69665 Pregnancy-related cholestasis 48686 Primary effusion lymphoma
314684 Primary bone lymphoma
Prelingual non-syndromic genetic 46135 Primary brain lymphoma 90026 Primary erythermalgia
216445
deafness 90026 Primary erythromelalgia
300865 Primary C-ALCL
Premature aging appearance- Primary essential cutis verticis
267 Primary calpainopathy 357220
276432 developmental delay-cardiac gyrata
169464 Primary CD59 deficiency
arrhythmia syndrome 412206 Primary failure of tooth eruption
Premature aging syndrome, Primary central nervous system
46135 Primary familial amyloidosis of the
363665 lymphoma 98957
Penttinen type cornea
Premature chromosome Primary central nervous system
140989 Primary familial and congenital
→2512 condensation with microcephaly and vasculitis 90042
244 Primary ciliary dyskinesia polycythemia
intellectual disability 1980 Primary familial brain calcification
Premature closure of the arterial Primary ciliary dyskinesia,
95486 →244 90042 Primary familial polycythemia
duct Kartagener type
Primary ciliary dyskinesia-retinitis Primary Fanconi renotubular
Premature closure of the patent 247522 3337
95486 pigmentosa syndrome syndrome
ductus arteriosus
46135 Primary CNS lymphoma 3337 Primary Fanconi syndrome
Premature degenerative
2114 477781 Primary condylar hyperplasia 633 Primary GH insensitivity
osteoarthropathy of the hip
90042 633 Primary GH resistance
247638 Prenatal benign hypophosphatasia Primary congenital erythrocytosis
98976 Primary congenital glaucoma Primary growth hormone
Prenatal benign 633
247638
91138 Primary cryoglobulinemia insensitivity
phosphoethanolaminuria
633 Primary growth hormone resistance
247638 Prenatal benign Rathburn disease Primary cutaneous aggressive
178528 epidermotropic CD8+ T-cell Primary hepatic neuroendocrine
Prenatal-onset spinal muscular 100085
lymphoma carcinoma
486811 atrophy with congenital bone
480506 Primary hepatolithiasis
fractures Primary cutaneous anaplastic large
300865 314950 Primary HES
525738 Prepubertal anorexia nervosa cell lymphoma
Pressure-induced localized
90160
lipoatrophy
ORPHA ORPHA ORPHA
Primary hyperaldosteronism- 228272 Primary macular atrophy 2420 Primary pulmonary lymphoma
369929 seizures-neurological abnormalities Primary malignant peritoneal Primary renal tubular hypokalemic
168811 358
syndrome mesothelioma hypomagnesemia with hypocalciuria
Primary hypereosinophilic Primary mediastinal clear cell 412206 Primary retention of teeth
314950 98838
syndrome lymphoma of B-cell type 171 Primary sclerosing cholangitis
Primary hypergonadotropic Primary mediastinal large B-cell 289390 Primary Sjögren syndrome
98838
2232 hypogonadism-partial alopecia lymphoma Primary Sjögren-Gougerot
syndrome 289390
Primary megaureter, adult-onset syndrome
238642
Primary hyperkalemic periodic form 99856 Primary syringomyelia
682
paralysis Primary melanoma of the central 98841 Primary systemic ALCL
252050
416 Primary hyperoxaluria nervous system 314701 Primary systemic amyloidosis
93598 Primary hyperoxaluria type 1 252050 Primary melanoma of the CNS 268861 Primary tethered cord syndrome
93599 Primary hyperoxaluria type 2 Primary membranoproliferative
54370 Primary tethered spinal cord
93600 Primary hyperoxaluria type 3 glomerulonephritis 268861
syndrome
682 Primary hyperPP Primary membranous 99867 Primary thymic epithelial neoplasm
97560
33208 Primary hypersomnia glomerulonephritis Primary thymic epithelial neoplasm
1572 Primary hypogammaglobulinemia 97560 Primary membranous nephropathy 263310
type A
Primary hypomagnesemia with Primary microcephaly-epilepsy- Primary thymic epithelial neoplasm
30924 263324
secondary hypocalcemia 306558 permanent neonatal diabetes type AB
Primary immunodeficiency due to syndrome Primary thymic epithelial neoplasm
75391 263317
MCM4 deficiency Primary microcephaly-mild type B
Primary immunodeficiency 391408 intellectual disability-young-onset
90023 99867 Primary thymic epithelial tumor
syndrome due to p14 deficiency diabetes syndrome
Primary thymic epithelial tumor
Primary immunodeficiency 824 Primary myelofibrosis 263310
90023 type A
syndrome with short stature Primary non-essential cutis verticis Primary thymic epithelial tumor
357225
gyrata 263324
Primary immunodeficiency with type AB
447731 multifaceted aberrant lymphoid Primary non-gestational Primary thymic epithelial tumor
289356
immunity choriocarcinoma of ovary 263317
type B
Primary immunodeficiency with Primary non-gestational ovarian Primary torsion dystonia with
289356
75391 natural-killer cell deficiency and choriocarcinoma 98807 predominant craniocervical or upper
adrenal insufficiency 279897 Primary oculocerebral lymphoma limb onset
Primary immunodeficiency with Primary oculocerebral non-Hodgkin Primary unilateral adrenal
279897 231580
431166 post-measles-mumps-rubella lymphoma hyperplasia
vaccine viral infection 238606 Primary orthostatic tremor Primary vasculitis of the central
Primary immunodeficiency with 439737 Primary PAN 140989
431166 nervous system
post-MMR vaccine viral infection 99878 Primary parathyroid hyperplasia Primitive neuroectodermal tumor of
Primary insulin-like growth factor 213812
73272 875 Primary pediatric heart tumor the cervix uteri
deficiency 439737 Primary periarteritis nodosa Primitive neuroectodermal tumor of
90362 Primary intestinal lymphangiectasia 213630
168829 Primary peritoneal carcinoma the corpus uteri
480506 Primary intrahepatic lithiasis Primary peritoneal serous 854 Primitive portal vein thrombosis
Primary intralymphatic 168829
458768 carcinoma 3033 Primitive renal tubule syndrome
angioendothelioma Primary peritoneal serous/papillary Primordial microcephalic dwarfism,
279904 Primary intraocular lymphoma 398980 2636
carcinoma Crachami type
Primary intraocular non-Hodgkin's Primary pigmented nodular adrenal Primordial short stature-
279904 189439
lymphoma dysplasia →2637 microdontia-opalescent and rootless
Primary intraosseous venous Primary pigmented nodular teeth syndrome
140436 189439
malformation adrenocortical disease 3042 Primrose syndrome
137926 Primary laryngeal lymphangioma 100021 Primary plasmacytoma of the bone 397606 Prion protein systemic amyloidosis
35689 Primary lateral sclerosis 439737 Primary polyarteritis nodosa PRKAR1B-related
314709 Primary localized amyloidosis Primary progressive apraxia of 412066 neurodegenerative dementia with
314566
Primary localized cutaneous nodular speech intermediate filaments
137810
amyloidosis 75567 Primary progressive freezing gait 2965 PRL-secreting pituitary adenoma
Primary lymphoid conjunctival Primary pulmonary arterial 2965 PRLoma
319667 275766
tumor hypertension 326 Proaccelerin deficiency
Primary lymphoma of the 2257 Primary pulmonary hypoplasia 141099 Proboscis lateralis
319667
conjunctiva
ORPHA ORPHA ORPHA
740 Progeria Progressive encephalopathy-optic Progressive myoclonic epilepsy type
2836 402082
Progeria-short stature-pigmented atrophy syndrome 5
2959
nevi syndrome Progressive epilepsy-intellectual Progressive myoclonic epilepsy type
1947 280620
Progeroid and marfanoid aspect- disability syndrome, Finnish type 6
300382
lipodystrophy syndrome Progressive essential tremor-speech Progressive myoclonic epilepsy type
435438
Progeroid features-hepatocellular impairment-facial dysmorphism- 7
435953 457212
carcinoma predisposition syndrome intellectual disability-abnormal Progressive myoclonic epilepsy type
424027
2962 Progeroid syndrome, De Barsy type behavior syndrome 8
2963 Progeroid syndrome, Petty type Progressive external Progressive myoclonic epilepsy type
2744 457265
Progressive arterial occlusive ophthalmoplegia and scoliosis 9
disease-hypertension-heart defects- Progressive external Progressive myoclonic epilepsy with
79094 352596
bone fragility-brachysyndactyly 352447 ophthalmoplegia-myopathy- dystonia
syndrome emaciation syndrome Progressive myoclonic epilepsy with
530298
Progressive autosomal recessive 1214 Progressive facial hemiatrophy neuroserpin inclusion bodies
448251
ataxia-deafness syndrome Progressive familial intrahepatic Progressive myoclonus epilepsy
172 308
Progressive autosomal recessive cholestasis type 1
448251 ataxia-sensorineural hearing loss Progressive familial intrahepatic Progressive myoclonus epilepsy
79306 501
syndrome cholestasis type 1 type 2
Progressive bifocal chorioretinal Progressive familial intrahepatic Progressive myoclonus epilepsy
75373 79304 263516
atrophy cholestasis type 2 type 3
Progressive bulbar palsy of Progressive familial intrahepatic Progressive myoclonus epilepsy
→97229 79305 163696
childhood cholestasis type 3 type 4
Progressive bulbar paralysis of Progressive familial intrahepatic Progressive myoclonus epilepsy
→97229 480483 402082
childhood cholestasis type 4 type 5
Progressive cavitating Progressive familial intrahepatic Progressive myoclonus epilepsy
139447 480476 280620
leukoencephalopathy cholestasis type 5 type 6
Progressive cephalothoracic 75327 Progressive foveal dystrophy Progressive myoclonus epilepsy
79087 435438
lipodystrophy 1214 Progressive hemifacial atrophy type 7
Progressive cerebello-cerebral Progressive isolated segmental Progressive myoclonus epilepsy
247198 199282 424027
atrophy anhidrosis type 8
1871 Progressive cone dystrophy 73 Progressive massive osteolysis Progressive myoclonus epilepsy
457265
Progressive cutaneous systemic Progressive microcephaly-seizures- type 9
220393
scleroderma 477814 cortical blindness-developmental Progressive myoclonus epilepsy
352596
Progressive cutaneous systemic delay syndrome with dystonia
220393
sclerosis Progressive multifocal Progressive neuronal degeneration
217260 726
Progressive deafness with stapes leukoencephalitis of childhood with liver disease
3235
fixation Progressive multifocal Progressive neurosensory deafness-
217260
Progressive deforming osteogenesis leukoencephalopathy 228012 hypertrophic cardiomyopathy
216812
imperfecta 454706 Progressive muscular atrophy syndrome
Progressive dementia with Progressive myoclonic epilepsy due Progressive neurosensory hearing
530303 424027
neuroserpin inclusion bodies to CERS1 deficiency 228012 loss-hypertrophic cardiomyopathy
1328 Progressive diaphyseal dysplasia Progressive myoclonic epilepsy due syndrome
263516
Progressive diffuse palmoplantar to KCTD7 deficiency 158022 Progressive nodular histiocytosis
495
keratoderma Progressive myoclonic epilepsy due 100070 Progressive non-fluent aphasia
435438
495 Progressive diffuse PPK to KV3.1 deficiency Progressive non-infectious anterior
2062
Progressive encephalomyelitis with Progressive myoclonic epilepsy due vertebral fusion
438266 457265
rigidity and myoclonus to LMNB2 deficiency 2762 Progressive osseous heteroplasia
Progressive encephalopathy with Progressive myoclonic epilepsy type Progressive pancytopenia-
308
2836 edema, hypsarrhythmia and optic 1 3322 immunodeficiency-cerebellar
atrophy Progressive myoclonic epilepsy type hypoplasia syndrome
501
Progressive encephalopathy with 2 Progressive polyneuropathy with
217396
431361 leukodystrophy due to DECR Progressive myoclonic epilepsy type bilateral striatal necrosis
263516
deficiency 3 Progressive pseudorheumatoid
1159
Progressive encephalopathy with Progressive myoclonic epilepsy type arthropathy of childhood
99852 163696
severe infantile anorexia 4 Progressive retinal dystrophy due to
352718
retinol transport defect
ORPHA ORPHA ORPHA
Progressive scapulohumeroperoneal 213 Protein defect of cystin transport 284417 PSAT deficiency
447977
distal myopathy 26349 Protein S acquired deficiency 171 PSC
Progressive sensorineural deafness- 744 Proteus syndrome 228402 Pseudo-Angelman syndrome
228012 hypertrophic cardiomyopathy 2969 Proteus-like syndrome 99000 Pseudo-Best disease
syndrome 325 Prothrombin deficiency 314459 Pseudo-Demons-Meigs syndrome
Progressive sensorineural hearing Proton-pump inhibitor-responsive 577 Pseudo-Hurler polydystrophy
228012 loss-hypertrophic cardiomyopathy 411696
esophageal eosinophilia 314459 Pseudo-Meigs syndrome
syndrome 251598 Protoplasmic astrocytoma 439881 Pseudo-membranous bronchitis
Progressive Protoporphyrinogen oxidase 263482 Pseudo-Morquio syndrome type 2
spondyloepimetaphyseal dysplasia- 79473
deficiency 2971 Pseudo-NALD
457395 short stature-short fourth
2508 Proud syndrome Pseudo-neonatal
metatarsals-intellectual disability 2971
2508 Proud-Levine-Carpenter syndrome adrenoleukodystrophy
syndrome
52022 Proximal 11p deletion syndrome 1229 Pseudo-TORCH syndrome
683 Progressive supranuclear palsy
Progressive supranuclear palsy- Proximal 16p11.2 microdeletion 2166 Pseudo-trisomy 13 syndrome
261197
240112 syndrome Pseudo-vitelliform macular
apraxia of speech syndrome 99000
Progressive supranuclear palsy- Proximal 16p11.2 microduplication dystrophy
370079
240103 syndrome 52530 Pseudo-von Willebrand disease
corticobasal syndrome
502437 Proximal del(4)(q25) Pseudo-von Willebrand disease type
Progressive supranuclear palsy- 52530
240085 261197 Proximal del(16)(p11.2)
parkinsonism syndrome 2B
Progressive supranuclear palsy- 370079 Proximal dup(16)(p11.2) →300 Pseudo-Zellweger syndrome
240112 progressive non-fluent aphasia 502437 Proximal monosomy 4q25 750 Pseudoachondroplasia
syndrome 261197 Proximal monosomy 16p11.2 750 Pseudoachondroplastic dysplasia
Progressive supranuclear palsy-pure Proximal myopathy with Pseudoachondroplastic
240094 401768 750
akinesia with gait freezing syndrome extrapyramidal signs spondyloepiphyseal dysplasia
Progressive symmetric Proximal myopathy with focal 2971 Pseudoadrenoleukodystrophy
316 521305
erythrokeratodermia depletion of mitochondria 526 Pseudoaldosteronism
Progressive symmetric 606 Proximal myotonic dystrophy 221120 Pseudoaminopterin syndrome
316
erythrokeratodermia, Gottron type 606 Proximal myotonic myopathy 132 Pseudocholinesterase deficiency
Prolactin-secreting pituitary 47159 Proximal renal tubular acidosis 85174 Pseudodiastrophic dysplasia
2965
adenoma Proximal renal tubular acidosis with 526 Pseudohyperaldosteronism type 1
2965 Prolactinoma 93607 ocular abnormalities and intellectual 88660 Pseudohyperaldosteronism type 2
742 Prolidase deficiency disability 756 Pseudohypoaldosteronism type 1
492 Proliferating trichilemmal cyst 70 Proximal spinal muscular atrophy 757 Pseudohypoaldosteronism type 2
Proliferation of large granular Proximal spinal muscular atrophy 88938 Pseudohypoaldosteronism type 2A
86872 83330
lymphocytes type 1
88939 Pseudohypoaldosteronism type 2B
Proliferative vasculopathy and Proximal spinal muscular atrophy
221126 83418 88940 Pseudohypoaldosteronism type 2C
hydranencephaly/hydrocephaly type 2
300525 Pseudohypoaldosteronism type 2D
419 Proline oxidase deficiency Proximal spinal muscular atrophy
83419 300530 Pseudohypoaldosteronism type 2E
Prolonged electroretinal response type 3
75374 79443 Pseudohypoparathyroidism type 1A
suppression Proximal spinal muscular atrophy
83420 94089 Pseudohypoparathyroidism type 1B
Prolymphocytic variant of hairy cell type 4
300878 79444 Pseudohypoparathyroidism type 1C
leukemia 3250 Proximal symphalangism
370079 Proximal trisomy 16p11.2 94090 Pseudohypoparathyroidism type 2
300878 Prolymphocytic variant of HCL
Prominent glabella-microcephaly- Proximal tubulopathy-diabetes Pseudoleprechaunism syndrome,
3390 2976
2083 Patterson type
hypogenitalism syndrome mellitus-cerebellar ataxia syndrome
397606 PrP systemic amyloidosis 26790 Pseudomyxoma peritonei
2966 Properdin deficiency
35 Propionic acidemia 3222 PRPP synthetase superactivity Pseudopapillary
251962
3222 PRPS1 superactivity ganglioglioneurocytoma
35 Propionic aciduria
47159 pRTA Pseudopapillary neurocytoma with
Propionyl-CoA carboxylase 251962
35 glial differentiation
deficiency 165994 PRTH
Pseudopapilledema-
485358 Propylthiouracil embryofetopathy 2970 Prune belly syndrome
2980 blepharophimosis-hand anomalies
485358 Propylthiouracil embryopathy Pruriginous dystrophic
89843 syndrome
324977 Proteasome disability syndrome epidermolysis bullosa
129 Pseudopelade of Brocq
Proteasome-associated Pruritic urticarial papules and
324977 64745 2985 Pseudoprogeria syndrome
autoinflammatory syndrome plaques of pregnancy
ORPHA ORPHA ORPHA
79445 Pseudopseudohypoparathyroidism Pterygium colli-intellectual Pulmonary fungal infections in
217080
477742 Pseudosarcomatous fasciitis disability-digital anomalies
2988 patients deemed at risk
477742 Pseudosarcomatous fibromatosis syndrome 99874 Pulmonary histiocytosis X
3103 Pseudothalidomide syndrome 86789 PTLAH Pulmonary hypoplasia-agonadism-
238624 Pseudotumor cerebri 70568 PTLD 991 dextrocardia-diaphragmatic hernia
83316 Pseudotyphus of California Ptosis-strabismus-ectopic pupils syndrome
2999
180079 Pseudounicornuate uterus syndrome 217557 Pulmonary interstitial glycogenosis
Pseudovaginal perineoscrotal Ptosis-strabismus-rectus abdominis 2414 Pulmonary lymphangiomatosis
753 →293843
hypospadias diastasis syndrome Pulmonary nodular lymphoid
60026
289157 Pseudovitamin D-deficient rickets Ptosis-syndactyly-learning hyperplasia
→284160
758 Pseudoxanthoma elasticum difficulties syndrome Pulmonary non-tuberculous
411703
Pseudoxanthoma elasticum-like Ptosis-upper ocular movement mycobacterial infection
228293 228396 limitation-absence of lacrimal 60026 Pulmonary pseudolymphoma
papillary dermal elastolysis
punctum syndrome Pulmonary valve agenesis-intact
Pseudoxanthoma elasticum-like skin
436274 manifestations with retinitis Ptosis-vocal cord paralysis 99048 ventricular septum-persistent ductus
2997
pigmentosa syndrome arteriosus syndrome
251915 PTPR Pulmonary valve agenesis-tetralogy
Pseudoxanthoma elasticum-like
91135 485358 PTU embryofetopathy 101206 of Fallot-absence of ductus
syndrome
Pseudoxanthoma-like late-onset 485358 PTU embryopathy arteriosus syndrome
228227 231580 PUAH 31837 Pulmonary venoocclusive disease
focal dermal elastosis
280794 Pseudoxanthomatous DCM 60039 Pudendal algia Pulmonic stenosis with 'café-au-lait'
→636
Pseudoxanthomatous diffuse Pudendal nerve entrapment spots
280794 60039
cutaneous mastocytosis syndrome Pulmonic stenosis-
60039 Pudendal neuralgia 85202 brachytelephalangism-calcification
95496 PSIS
Pudendal neuralgia by pudendal of cartilages syndrome
85436 Psoriasis-related JIA 60039
nerve entrapment 98984 Pulverulent cataract
Psoriasis-related juvenile idiopathic
85436 60039 Pudendalgia 97353 Punch-drunk syndrome
arthritis
683 PSP syndrome 443173 Puerperal psychosis Punctate palmoplantar
79502
984 Pulmonary agenesis hyperkeratosis type 2
240112 PSP-AOS
60025 Pulmonary alveolar microlithiasis Punctate palmoplantar
240103 PSP-CBS 38
Pulmonary alveolar proteinosis, hyperkeratosis type 3
240103 PSP-corticobasal syndrome 440427
Reunion island type Punctate palmoplantar
240085 PSP-p
308013 hyperkeratosis type 3 without
240094 PSP-PAGF 247257 Pulmonary anthrax
elastoidosis
240085 PSP-parkinsonism Pulmonary arterial hypertension-
→331176 leukopenia-atrial septal defect Punctate palmoplantar
240112 PSP-PNFA 79501
syndrome keratoderma type 1
240094 PSP-pure akinesia with gait freezing Punctate palmoplantar
Pulmonary arteriovenous 79502
263548 PSS type A 2038 keratoderma type 2
malformation
263553 PSS type B Punctate palmoplantar
Pulmonary artery coming from 38
99928 PSST 99049 keratoderma type 3
patent ductus arteriosus
71519 Psychogenic dystonia Punctate palmoplantar
Pulmonary artery coming from the
71519 Psychogenic movement disorders 99050 308013 keratoderma type 3 without
aorta
324636 Psychogenic purpura elastoidosis
99083 Pulmonary artery hypoplasia
Psychomotor regression- 64745 PUPPP
Pulmonary atresia with ventricular
505242 oculomotor apraxia-movement 1207 PURA-related severe neonatal
septal defect
disorder-nephropathy syndrome 438213 hypotonia-seizures-encephalopathy
Pulmonary atresia-intact ventricular
Psychomotor retardation due to S- 1208 syndrome
septum syndrome
88618 adenosylhomocysteine hydrolase PURA-related severe neonatal
64741 Pulmonary blastoma
deficiency 438216 hypotonia-seizures-encephalopathy
99084 Pulmonary branch stenosis
52530 PT-VWD syndrome due to a point mutation
Pulmonary capillary Pure aldosterone-producing
329 PTA deficiency 199241
hemangiomatosis 231625
247698 PTC syndrome adrenocortical carcinoma
Pulmonary fibrosis-hepatic Pure aldosterone-secreting
97290 PTC-RCC 210136 hyperplasia-bone marrow 231625
269229 PTCD adrenocortical carcinoma
hypoplasia syndrome
231625 Pure APAC
Pterin-4 alpha-carbinolamine
1578 441 Pure autonomic failure
dehydratase deficiency
ORPHA ORPHA ORPHA
441 Pure dysautonomia Pyridoxal phosphate-responsive 9 Quadruple X
79096
Pure familial acute myeloid seizures 84142 Quantal squander syndrome
319465
leukemia 79096 Pyridoxamine 5'-oxidase deficiency 869 Quaternary A syndrome
319465 Pure familial AML Pyridoxamine 5'-phosphate oxidase 220436 Quebec platelet disorder
79096
Pure hair and nail ectodermal deficiency 781 Query fever
69084
dysplasia 3006 Pyridoxine-dependent epilepsy 137888 Question mark ear syndrome
441 Pure idiopatic dysautonomia 32 Pyroglutamicaciduria 346 Quinquaud's folliculitis decalvans
475 Pure Joubert syndrome Pyrroline-5-carboxylate reductase 1 1437 r(1) syndrome
293633
254854 Pure mitochondrial myopathy deficiency 1447 r(4) syndrome
2028 Puretic syndrome 3008 Pyruvate carboxylase deficiency 1450 r(8) syndrome
Purine nucleoside phosphorylase Pyruvate carboxylase deficiency 96175 r(11) syndrome
760 353308
deficiency type A 1446 r(22) syndrome
761 Purpura rheumatica Pyruvate carboxylase deficiency 261529 r(Y)
353314
2442 Purtilo syndrome type B
100057 RAAS-blocker-induced angioedema
293173 Pustular drug eruption Pyruvate carboxylase deficiency
353320 RAAS-blocker-induced
163927 Pustulosis palmaris et plantaris type C 100057
angioneurotic edema
48377 Pustulosis subcornealis Pyruvate carboxylase deficiency,
353320 770 Rabies
93110 PUV benign type
769 Rabson-Mendenhall syndrome
729 PV Pyruvate carboxylase deficiency,
353308 240760 RAD50 deficiency
infantile type
101206 PVA/ADA, Fallot type 93321 Radial clubhand
Pyruvate carboxylase deficiency,
99048 PVA/PDA, non-Fallot type 353314 Radial deficiency-tibial hypoplasia
severe neonatal type 1121
398069 PWS due to a point mutation syndrome
79243 Pyruvate decarboxylase deficiency
398073 PWS-like 93321 Radial hemimelia
Pyruvate dehydrogenase complex
398079 PWS-like due to a point mutation 79244 Radial hypoplasia-triphalangeal
component E2 deficiency
251607 PXA 2252 thumbs-hypospadias-maxillary
Pyruvate dehydrogenase complex
758 PXE 255182 diastema syndrome
component E3 deficiency
PXE-like late-onset focal dermal Pyruvate dehydrogenase complex
93321 Radial longitidinal meromelia
228227 765
elastosis deficiency 93321 Radial ray agenesis
228293 PXE-like papillary dermal elastolysis Pyruvate dehydrogenase complex Radial ray defects, hearing
91135 PXE-like syndrome 79243 E1 component subunit alpha impairment, external
2307
PXE-like syndrome with retinitis deficiency ophthalmoplegia, and
436274 thrombocytopenia
pigmentosa Pyruvate dehydrogenase complex
763 Pycnodysostosis 255138 E1 component subunit beta Radial ray hypoplasia-choanal
3026
293633 PYCR1 deficiency deficiency atresia syndrome
293633 PYCR1-related De Barsy syndrome 765 Pyruvate dehydrogenase deficiency 90021 Radiation myelitis
Pyruvate dehydrogenase E1-alpha 70475 Radiation proctitis
PYCR2-related microcephaly-
481152 79243 521123 Radiation-induced plexopathy
progressive leukoencephalopathy deficiency
3003 Pyknoachondrogenesis Pyruvate dehydrogenase E1-beta 99789 Radicular dentin dysplasia
255138
763 Pyknodysostosis deficiency Radiculomegaly of canine teeth-
→2712
64280 Pyknolepsy Pyruvate dehydrogenase E2 congenital cataract
79244
3005 Pyle disease deficiency 3015 Radio-renal syndrome
48104 Pyoderma gangrenosum Pyruvate dehydrogenase E3 295219 Radio-ulnar fusion, bilateral
2394
Pyoderma gangrenosum-acne- deficiency 295217 Radio-ulnar fusion, unilateral
289478 Pyruvate dehydrogenase E3-binding 295219 Radio-ulnar synostosis, bilateral
suppurative hidradenitis syndrome 255182
Pyogenic arthritis-pyoderma protein deficiency 295217 Radio-ulnar synostosis, unilateral
69126 Pyruvate dehydrogenase
gangrenosum-acne syndrome 79246 Radio-ulnar synostosis-
Pyogenic bacterial infections due to phosphatase deficiency 71289 amegakaryocytic thrombocytopenia
183713 Pyruvate dehydrogenase protein X syndrome
MyD88 deficiency 255182
764 Pyomyositis component deficiency Radio-ulnar synostosis-retinal
→193
Pyramidal molars-abnormal upper Pyruvate kinase deficiency of pigment abnormalities syndrome
2561 766
lip syndrome erythrocytes Radio-ulnar terminal transverse
294979
63440 Pyrgocephaly 781 Q fever meromelia
Pyridoxal phosphate-dependent 3010 Qazi-Markouizos syndrome Radiosensitivity-immunodeficiency-
79096 602 Quadriceps-sparing myopathy 420741 dysmorphic features-learning
seizures
781 Quadrilateral fever difficulties syndrome
ORPHA ORPHA ORPHA
3269 Radioulnar fusion 31205 Rat-bite fever 100081 Rectal NET
Radioulnar synostosis- 436 Rathburn disease 100081 Rectal neuroendocrine tumor
3270 developmental delay-hypotonia 99852 Ravine syndrome 424002 Rectal squamous cell carcinoma
syndrome 2840 Ray-Peterson-Scott syndrome 51890 Rectus abdominis syndrome
Radioulnar synostosis- 79127 RB-ILD Recurrent acute necrotizing
3268 88619
microcephaly-scoliosis syndrome 98961 RBCD encephalopathy
100057 RAE 96175 64740 Recurrent acute pancreatitis
RC11
100019 RAEB-1 93111 RCAD syndrome Recurrent encephalophathy of
2672
100020 RAEB-2 177 RCDP childhood
168960 RAEB-t 284388 Recurrent hepatitis C virus induced
RCVS
1832 Raine syndrome 79408 RDEB generalisata gravis 90052 liver disease in liver transplant
50811 Rajab-Spranger syndrome 89842 RDEB generalisata mitis recipients
178307 RAK 89841 RDEB, centripetalis Recurrent hereditary corneal
293381
268114 RALD erosions
89842 RDEB, generalized intermediate
99843 Rambam-Hasharon syndrome 499103 Recurrent idiopathic neuroretinitis
79408 RDEB, Hallopeau-Siemens type
3018 Rambaud-Gallian syndrome Recurrent infection due to specific
89842 RDEB, non-Hallopeau-Siemens type 169142
Rambaud-Gallian-Touchard granule deficiency
3018 89841 RDEB-Ce
syndrome Recurrent infections associated with
89842 RDEB-generalized other 183675 rare immunoglobulin isotypes
3019 Ramon syndrome 79409 RDEB-I
1051 Ramos-Arroyo syndrome deficiency
89842 RDEB-O Recurrent infections-inflammatory
3020 Ramsay Hunt syndrome 79408 RDEB-sev gen 251523 syndrome due to zinc metabolism
86861 Randall disease 85445 Reactive amyloidosis disorder syndrome
3021 RAPADILINO syndrome 29207 Reactive arthritis Recurrent intrahepatic cholestasis
Rapid-onset childhood obesity- 69665
Reactive hypereosinophilic of pregnancy
hypothalamic dysfunction- 314962
293987 syndrome Recurrent metabolic
hypoventilation-autonomic
166433 Reading seizures encephalomyopathic crises-
dysregulation syndrome 480864
857 REAR syndrome rhabdomyolysis-cardiac arrhythmia-
Rapid-onset childhood obesity- intellectual disability syndrome
hypothalamic dysfunction-
1188 Reardon-Baraitser syndrome
2631 Reardon-Hall-Slaney syndrome Recurrent Neisseria infections due
293987 hypoventilation-autonomic 169467
96167 Rec8 syndrome to factor D deficiency
dysregulation-neural tumors
syndrome 96167 Rec(8) syndrome Recurrent respiratory
60032
Recessive aplasia cutis congenita of papillomatosis
71517 Rapid-onset dystonia-parkinsonism 1115
limbs Recurring digital fibrous tumor of
Rapidly involuting congenital 199267
141184 childhood
hemangioma Recessive dystrophic epidermolysis
79409 79433 Red oculocutaneous albinism
Rapidly progressive bullosa inversa
280569 231031 Red palms disease
glomerulonephritis Recessive dystrophic epidermolysis
89842 838 RED-M
→1071 Rapp-Hodgkin syndrome bullosa, generalized intermediate
Recessive dystrophic epidermolysis 97239 Reducing body myopathy
213528 Rare adenocarcinoma of the breast
98345 Rare idiopathic male infertility 89842 bullosa, non-Hallopeau-Siemens 523 Reed syndrome
98619 Rare isolated myopia type 3221 Refetoff syndrome
Rare non-syndromic intellectual Recessive dystrophic epidermolysis 99995 Reflex sympathetic dystrophy
89842
101685 bullosa-generalized other 98826 Refractory anemia
disability
101685 Rare NSID Recessive intellectual disability- Refractory anemia with excess
86839
280384 motor dysfunction-multiple joint blasts
Rare variants of adenocarcinoma of
213574 contractures syndrome Refractory anemia with excess
the corpus uteri 168960
Recessive mitochondrial ataxia blasts in transformation
75564 RARS 94125
syndrome Refractory anemia with excess
RARS-related autosomal recessive 100019
438114 461 Recessive X-linked ichthyosis blasts type 1
hypomyelinating leukodystrophy
Recessive X-linked ichthyosis with Refractory anemia with excess
RAS-associated autoimmune 281090 100020
268114 extracutaneous manifestations blasts type 2
leukoproliferative disease
96167 Recombinant 8 syndrome Refractory anemia with ringed
1929 Rasmussen subacute encephalitis 75564
Recombinant chromosome 8 sideroblasts
1929 Rasmussen syndrome 96167
syndrome 398063 Refractory CD
Rasmussen-Johnsen-Thomsen
3023 99990 Recrudescent typhus 398063 Refractory celiac disease
syndrome
171220 Rectal duplication
ORPHA ORPHA ORPHA
398063 Refractory sprue Renal dysplasia-retinal aplasia 247257 Respiratory anthrax disease
3156
773 Refsum disease syndrome Respiratory bronchiolitis-interstitial
79127
1525 Reginato-Schiapachasse syndrome Renal dysplasia-retinal pigmentary lung disease syndrome
Regional choroidal atrophy and 140969 dystrophy-cerebellar ataxia-skeletal 1662 Restrictive dermopathy
1433
alopecia dysplasia syndrome 33355 Reticular dysgenesis
83450 Regional odontodysplasia 654 Renal embryonic tumor Reticular dystrophy of the retinal
99002
300865 Regressive atypical histiocytosis Renal Fanconi syndrome with pigment epithelium
1652
1040 Regressive metaphyseal dysplasia nephrocalcinosis and renal stones 100000 Reticular perineurioma
Regressive spondylometaphyseal 34528 Renal hypomagnesemia type 2 Reticular pigment anomaly of
448267 79145
dysplasia 31043 Renal hypomagnesemia type 3 flexures
Reinhardt-Pfeiffer mesomelic 93101 Renal hypoplasia Reticulate acropigmentation of
2634 178307
dysplasia 97362 Renal hypoplasia, bilateral Kitamura
2634 Reinhardt-Pfeiffer syndrome 97361 Renal hypoplasia, unilateral 86900 Reticulum cell sarcoma
98961 Reis-Bücklers corneal dystrophy 319319 Renal medullary carcinoma 458763 Retiform hemangioendothelioma
29207 Reiter disease 71273 Renal nutcracker syndrome Retinal arterial macroaneurysm and
284247
29207 Reiter syndrome Renal pseudohypoaldosteronism supravalvular pulmonic stenosis
171871
99991 Relapsing epidemic typhus type 1 75326 Retinal arterial tortuosity
Relapsing febrile nodular 18 Renal tubular acidosis type 1 75326 Retinal arteriolar tortuosity
33577
nonsuppurative panniculitis 47159 Renal tubular acidosis type 2 71213 Retinal capillary malformation
Relapsing febrile nodular 2785 Renal tubular acidosis type 3 Retinal degeneration-
33577 1574
panniculitis 3033 Renal tubular dysgenesis nanophthalmos-glaucoma syndrome
91547 Relapsing fever Renal tubular dysgenesis due to Retinal detachment-occipital
97367 1571
728 Relapsing polychondritis twin-twin transfusion encephalocele syndrome
412 Remnant disease Renal tubular dysgenesis of genetic Retinal dystrophy with inner nuclear
97369 397758
REN-associated familial juvenile origin layer and ganglion cell anomalies
217330 Retinal dystrophy with inner retinal
hyperuricemic nephropathy Renal tubular normotensive
217330 REN-associated FJHN 112 hypokalemic alkalosis with 397758 dysfunction and ganglion cell
217330 REN-associated kidney disease hypercalciuria anomalies
REN-related autosomal dominant Renal tubulopathy-encephalopathy- Retinal dystrophy-juvenile cataract-
254902 436245
217330 liver failure syndrome short stature syndrome
tubulointerstitial kidney disease
411709 Renal agenesis 857 Renal-ear-anal-radial syndrome Retinal hemorrhage with vascular
75326
→2578 Renal-genital-middle ear anomalies tortuosity
1848 Renal agenesis, bilateral
294415 Renal-hepatic-pancreatic dysplasia Retinal ischemic syndrome-digestive
93100 Renal agenesis, unilateral
Renal-hepatic-pancreatic dysplasia- 3018 tract small vessel hyalinosis-diffuse
Renal caliceal diverticuli-deafness 3032 cerebral calcifications syndrome
2838 Dandy-Walker cysts syndrome
syndrome
774 319640 Retinal macular dystrophy type 2
Renal cell carcinoma after Rendu-Osler disease
319314 774 Rendu-Osler-Weber disease Retinal vasculopathy and cerebral
neuroblastoma 247691
93975 Renier-Gabreels-Jasper syndrome leukoencephalopathy
Renal cell carcinoma associated
319314 Retinal vasculopathy with cerebral
with neuroblastoma Renin-angiotensin-aldosterone
100057 247691 leukoencephalopathy and systemic
1475 Renal coloboma syndrome system-blocker-induced angioedema
manifestations
93111 Renal cysts and diabetes syndrome Renin-angiotensin-aldosterone
353356 Retinal vasoproliferative tumor
Renal cysts-maturity-onset diabetes 100057 system-blocker-induced
93111 angioneurotic edema 791 Retinitis pigmentosa
of the young syndrome
294415 Renohepaticopancreatic dysplasia Retinitis pigmentosa and
Renal dysfunction-early-onset 85332 intellectual disability due to
93111 3033
diabetes syndrome Renotubular dysgenesis
del(X)(p11.3)
93108 Renal dysplasia 3242 Renpenning syndrome
Retinitis pigmentosa and
93173 Renal dysplasia, bilateral RERE-related neurodevelopmental
494344 85332 intellectual disability due to
93172 Renal dysplasia, unilateral syndrome
monosomy Xp11.3
Renal dysplasia-limb defects 529825 Resistance to colchicine
3404 Retinitis pigmentosa and
syndrome 73273 Resistance to IGF-1 85332 intellectual disability due to Xp11.3
Renal dysplasia-megalocystis- Resistance to thyroid stimulating microdeletion
→1768 424
sirenomelia syndrome hormone Retinitis pigmentosa-deafness
Resistance to thyrotropin-releasing 886
Renal dysplasia-mesomelia- 99832 syndrome
3404
radiohumeral fusion syndrome hormone syndrome
247257 Respiratory anthrax
ORPHA ORPHA ORPHA
Retinitis pigmentosa-deafness- 3096 Reye syndrome →1071 RHS
494439 premature aging-short stature-facial 199267 Reye tumor 140976 RHYNS syndrome
dysmorphism syndrome 779 Reynolds syndrome 217055 RI-CMT type A
Retinitis pigmentosa-hearing loss- 244310 RFT1-CDG 254334 RI-CMT type B
494439 premature aging-short stature-facial 251975 RGNT 369867 RI-CMT type C
dysmorphism syndrome 71275 Rh deficiency syndrome 435998 RI-CMT type D
Retinitis pigmentosa- 71275 Rh-null syndrome 97229 Riboflavin transporter deficiency
140976 hypopituitarism-nephronophthisis-
69077 Rhabdoid tumor 440706 Ribose-5-P isomerase deficiency
skeletal dysplasia syndrome
Rhabdoid tumor predisposition 141184 RICH
Retinitis pigmentosa-intellectual 231108
syndrome 1399 Richards-Rundle syndrome
3085 disability- labyrinthine deafness-
hypogenitalism syndrome Rhabdomyomatous dysplasia- 240071 Richardson syndrome
3097 cardiopathy-genital anomalies 2323 Richardson-Kirk syndrome
Retinitis pigmentosa-intellectual
syndrome 3101 Richieri Costa-da Silva syndrome
3085 disability-deafness-hypogonadism
780 Rhabdomyosarcoma
syndrome Richieri Costa-Guion Almeida
Rhabdomyosarcoma of the cervix →2995
Retinitis pigmentosa-intellectual 213802 syndrome
3085 disability-sensorineural hearing loss- uteri Richieri Costa-Guion Almeida-
Rhabdomyosarcoma of the corpus 2511
hypogenitalism syndrome 213615 Ramos syndrome
Retinitis pigmentosa-juvenile uteri Richieri Costa-Guion Almeida-Rodini
3099 Rheumatic fever →2353
436245 cataract-short stature-intellectual syndrome
disability syndrome 85408 Rheumatoid factor-negative JIA 3102 Richieri Costa-Pereira syndrome
52427 Retinitis punctata albescens Rheumatoid factor-negative JIA 1784 Richieri-Costa-Colletto syndrome
247854
790 Retinoblastoma with anti-nuclear antibodies 1794 Richieri-Costa-Gorlin syndrome
838 Retinocochleocerebral vasculopathy Rheumatoid factor-negative JIA 28378 Richner-Hanhart syndrome
247861
Retinohepatoendocrinologic without anti-nuclear antibodies 606 Ricker disease
3087 Rheumatoid factor-negative
syndrome 85408 606 Ricker syndrome
2305 Retinoic acid embryopathy juvenile idiopathic arthritis
83312 Rickettsialpox
40366 Retinoid embryopathy Rheumatoid factor-negative
420741 RIDDLE syndrome
247854 juvenile idiopathic arthritis with
2305 Retinoids embryopathy 64744 Riedel disease
anti-nuclear antibodies
Retinol dystrophy-iris coloboma- 64744 Riedel thyroiditis
352718 Rheumatoid factor-negative
comedogenic acne syndrome 91483 Rieger anomaly
247861 juvenile idiopathic arthritis without
90050 Retinopathy of prematurity Rieger anomaly-partial
anti-nuclear antibodies 3163
139455 Retinopathy, Burgess-Black type lipodystrophy syndrome
Rheumatoid factor-positive
Retinopathy-anemia-central 85435 782
3088 polyarticular JIA Rieger syndrome
nervous system anomalies syndrome Rheumatoid factor-positive 319251 Rift valley fever
Retinopathy-encephalopathy- 85435 polyarticular juvenile idiopathic 99081 Right aortic arch
838 deafness associated with arthritis Right inferior caval vein connecting
microangiopathy 99119
761 Rheumatoid purpura to left-sided atrium
53540 Retinoschisis with early nyctalopia Rhizomelic chondrodysplasia Right inferior vena cava connecting
269200 Retrocerebellar cyst 177 99119
punctata to left-sided atrium
90050 Retrolental fibroplasia Rhizomelic chondrodysplasia Right IVC connecting to left-sided
309789 99119
778 Rett syndrome punctata type 1 atrium
3095 Rett syndrome variant Rhizomelic chondrodysplasia Right superior caval vein connecting
309796 99110
Reunion Island Larsen-like punctata type 2 to left-sided atrium
294049
syndrome Rhizomelic chondrodysplasia Right superior vena cava connecting
309803 99110
Reunion island-anorexia-vomiting punctata type 3 to left-sided atrium
99852 which is irrepressible-neurological Rhizomelic chondrodysplasia Right SVC connecting to left-sided
468717 99110
signs syndrome punctata type 5 atrium
Reversible cerebral vasoconstriction Rhizomelic dysplasia, Patterson- Rigid spine congenital muscular
284388 2831 97244
syndrome Lowry type dystrophy
Reversible infantile cytochrome C 93569 Rhizomelic pseudopolyarthritis 97244 Rigid spine syndrome
254864
oxidase deficiency Rhizomelic shortness with clavicular 1764 Riley-Day syndrome
Reversible infantile respiratory 1453
254864 defect 217335 RIN2 deficiency
chain deficiency 3098 Rhizomelic syndrome, Urbach type 217335 RIN2 syndrome
3088 Revesz syndrome 59315 Rhombencephalosynapsis 96173 Ring 9
3088 Revesz-DeBuse syndrome
ORPHA ORPHA ORPHA
1437 Ring 1 1441 Ring chromosome 17 Rolandic epilepsy-speech dyspraxia
163721
96171 Ring 2 1441 Ring chromosome 17 syndrome syndrome
96172 Ring 3 1442 Ring chromosome 18 101016 Romano-Ward long QT syndrome
1447 Ring 4 1442 Ring chromosome 18 syndrome 101016 Romano-Ward syndrome
251043 Ring 5 1443 Ring chromosome 19 1214 Romberg syndrome
1448 Ring 6 1443 Ring chromosome 19 syndrome 3110 Rombo syndrome
1449 Ring 7 1444 Ring chromosome 20 90050 ROP
1450 Ring 8 1444 Ring chromosome 20 syndrome 158014 Rosaï-Dorfman disease
1438 Ring 10 1445 Ring chromosome 21 158014 Rosaï-Dorfman-Destombes disease
96175 Ring 11 1445 Ring chromosome 21 syndrome 1837 Rosenberg-Lohr syndrome
1439 Ring 12 1446 Ring chromosome 22 329 Rosenthal factor deficiency
96176 Ring 13 1446 Ring chromosome 22 syndrome 329 Rosenthal syndrome
1440 Ring 14 261529 Ring chromosome Y 251975 Rosette-forming glioneuronal tumor
96177 Ring 15 261529 Ring chromosome Y syndrome 2909 Rothmund-Thomson syndrome
96178 Ring 16 91481 Ring dermoid of cornea Rothmund-Thomson syndrome type
221008
1441 Ring 17 91481 Ring dermoid syndrome 1
1442 Ring 18 169 Ringed hair disease Rothmund-Thomson syndrome type
221016
1443 Ring 19 499103 RINR 2
1444 Ring 20 97238 Rippling muscle disease 3111 Rotor syndrome
1445 Ring 21 Rippling muscle disease with 171709 Round-headed sperm syndrome
206575 3115 Roussy-Lévy syndrome
1446 Ring 22 myasthenia gravis
1437 Ring chromosome 1 7 Ritscher-Schinzel syndrome 1323 Rozin-camptodactyly syndrome
1437 Ring chromosome 1 syndrome 1803 Rivera-Perez-Salas syndrome 1323 Rozin-Hertz-Goodman syndrome
96171 Ring chromosome 2 93307 rMED 280569 RPGN
96171 Ring chromosome 2 syndrome 420741 RNF168 deficiency 1507 RRS
96172 Ring chromosome 3 71273 RNS 818 RSH syndrome
96172 Ring chromosome 3 syndrome 3103 Roberts syndrome 293848 RTLA
1447 3103 Roberts-SC phocomelia syndrome 231108 RTPS
Ring chromosome 4
1447 Ring chromosome 4 syndrome Robin sequence-oligodactyly 2909 RTS
3104
251043 Ring chromosome 5 syndrome 221008 RTS1
251043 Ring chromosome 5 syndrome 97360 Robinow dwarfism 221016 RTS2
1448 97360 Robinow syndrome 83616 Rubella panencephalitis
Ring chromosome 6
1448 Ring chromosome 6 syndrome 3105 Robinow-like syndrome 783 Rubinstein-Taybi syndrome
1449 Ring chromosome 7 Robinow-Silverman-Smith Rubinstein-Taybi syndrome due to
97360 353281
1449 Ring chromosome 7 syndrome syndrome 16p13.3 microdeletion
1450 Ring chromosome 8 →794 Robinow-Sorauf syndrome Rubinstein-Taybi syndrome due to
353277
2780 Robinow-Unger syndrome CREBBP mutations
1450 Ring chromosome 8 syndrome
Roch-Leri mesosomatous Rubinstein-Taybi syndrome due to
96173 Ring chromosome 9 529 353284
lipomatosis EP300 haploinsufficiency
83311 Rocky Mountain spotted fever 1768 Rudd-Klimek syndrome
1438 Ring chromosome 10
49382 Rod monochromacy →798 Rudiger syndrome
49382 Rod monochromatism 79433 Rufous oculocutaneous albinism
49827 Rogers syndrome 435953 Ruijs-Aalfs syndrome
293987 ROHHAD 1672 Russell diencephalic cachexia
293987 ROHHADNET 1672 Russell syndrome
353298 Roifman syndrome 1834 Russell-Weaver-Bull syndrome
221139 Roifman-Chitayat syndrome 2709 Rutherfurd syndrome
→1855 Roifman-Melamed syndrome 3121 Ruvalcaba syndrome
247775 Rokitansky sequence 247691 RVCL
3109 Rokitansky syndrome 247691 RVCL-S
1945 Rolandic epilepsy 293848 rvFTD
Rolandic epilepsy-paroxysmal 461 RXLI
163727 exercise-induced dystonia-writer's 16 S cone monochromacy
cramp syndrome 16 S cone monochromatism
ORPHA ORPHA ORPHA
3105 Saal-Greenstein syndrome 70595 SANDO 98763 SCA14
319239 Sabia hemorrhagic fever 2378 Sandrow syndrome 98769 SCA15/16
Saccharopine dehydrogenase 581 Sanfilippo disease →98769 SCA16
3124
deficiency 79269 Sanfilippo syndrome type A 98759 SCA17
3124 Saccharopinuria 79270 Sanfilippo syndrome type B 98771 SCA18
286 Sack-Barabas syndrome 79271 Sanfilippo syndrome type C 98772 SCA19/22
98841 sACL 79272 Sanfilippo syndrome type D 101110 SCA20
3027 Sacral agenesis syndrome 2323 Sanjad-Sakati syndrome 98773 SCA21
Sacral agenesis-abnormal Santavuori congenital muscular →98772 SCA22
588
ossification of the vertebral bodies- dystrophy 101108 SCA23
397927
persistent notochordal canal 79263 Santavuori disease 101111 SCA25
syndrome 79263 Santavuori-Haltia disease 101112 SCA26
Sacral hemangiomas-multiple 2155 Santos-Mateus-Leal syndrome 98764 SCA27
→83628
congenital abnormalities syndrome 98868 SAO 101109 SCA28
Sacral meningocele-conotruncal 247234 SAOA
2351 208513 SCA29
heart defects syndrome
793 SAPHO syndrome 211017 SCA30
3027 Sacral regression syndrome
54368 Sarcocystosis 217012 SCA31
83628 SACRAL syndrome
797 Sarcoidosis 276183 SCA32
Sacrococcygeal dysgenesis
→3027 Sarcosine dehydrogenase complex 1955 SCA34
association 3129
deficiency 276193 SCA35
494421 Sacrococcygeal teratoma
3129 Sarcosinemia 276198 SCA36
85165 SADDAN
54368 Sarcosporidiosis 363710 SCA37
794 Saethre-Chotzen syndrome
1878 Sarcotubular myopathy 423296 SCA38
Sagittal craniostenosis with
251028 SATB2-associated syndrome 423275 SCA40
2872 congenital heart disease, mental
3130 Satoyoshi syndrome 458798 SCA41
deficiency and mandibular ankylosis
330015 Saturnism 458803 SCA42
300493 Sagliker syndrome
425120 SAVI 497764 SCA43
83484 Saint Louis encephalitis
2256 Saito-Kuba-Tsuruta syndrome Say-Barber-Biesecker-Young- 95433 SCABD
3047
Simpson syndrome 26792 SCAD deficiency
1409 Salamon syndrome
2013 Say-Barber-Hobbs syndrome 26792 SCADD
2613 Salcedo syndrome
3132 Say-Barber-Miller syndrome 254881 SCAE
140969 Saldino-Mainzer syndrome
3133 Say-Field-Coldwell syndrome
404499 Salih ataxia Scalp defects-postaxial polydactyly
3369 Say-Meyer syndrome 1003
289377 Salih myopathy syndrome
3047 SBBYSS 370052 SCALP syndrome
Salivary gland type cancer of the
213557 79157 SBCAD deficiency 2036
breast Scalp-ear-nipple syndrome
464288 SBIDDS 64753 SCAN 2
Salivary gland type carcinoma of the
213557 481 SBMA
breast 94124 SCAN1
309334 Salla disease 3103 SC phocomelia 840 SCAP
370938 Salt-and-pepper syndrome 3103 SC pseudothalidomide syndrome Scaphocephaly-macrocephaly-
Salt-losing tubular disorder, Henle's 98755 SCA1 168624 maxillary retrusion-intellectual
112 98756
loop type SCA2 disability syndrome
Salt-wasting tubulopathy, Henle's 98757 SCA3 2839 Scapuloiliac dysostosis
112
loop type 276238 SCA3, Joseph type 431255 Scapuloperoneal neuronopathy
2230 Salti-Salem syndrome 276244 SCA3, Machado type Scapuloperoneal spinal muscular
431255
369992 SAM syndrome 276241 SCA3, Thomas type atrophy
53721 SAMS 1-31 98765 SCA4 64753 SCAR1
397623 SAMS syndrome 98766 SCA5 1170 SCAR2
228123 San Joaquin valley fever 98758 SCA6 95433 SCAR3
96167 San Luis Valley syndrome 94147 SCA7 95434 SCAR4
796 Sandhoff disease 98760 SCA8 83472 SCAR5
309169 Sandhoff disease, adult form 98761 SCA10 284332 SCAR6
309155 Sandhoff disease, infantile form 98767 SCA11 284324 SCAR7
309162 Sandhoff disease, juvenile form 98762 SCA12 88644 SCAR8
71272 Sandifer syndrome 98768 SCA13 139485 SCAR9
ORPHA ORPHA ORPHA
284289 SCAR10 Schnyder crystalline corneal 1514 Scott craniodigital syndrome
98967
284271 SCAR11 dystrophy 806 Scott syndrome
284282 SCAR12 Schnyder crystalline dystrophy sine 1514 Scott-Bryant-Graham syndrome
98967
324262 SCAR13 crystals 1509 Scott-Taor syndrome
352403 SCAR14 3145 Schofer-Beetz-Bohl syndrome 86813 SCRA
404499 SCAR15 3041 Scholte-Begeer-van Essen syndrome 83317 Scrub typhus
412057 SCAR16 50944 Schöpf-Schulz-Passarge syndrome 794 SCS
453521 SCAR17 93921 Schwannomatosis 295193 SD1, Castilla type
363432 SCAR18 800 Schwartz-Jampel syndrome 295189 SD1, Lueken type
448251 SCAR19 800 Schwartz-Jampel syndrome type 1 295191 SD1, Montagu type
397709 SCAR20 3206 Schwartz-Jampel syndrome type 2 295187 SD1, Weidenreich type
466794 SCAR21 Schwartz-Jampel-Aberfeld 295187 SD1a
800
404493 SCAR23 syndrome 295189 SD1b
3134 SCARF syndrome SCID due to adenosine deaminase 295191 SD1c
277
Scarring in glaucoma filtration deficiency 295193 SD1d
90080 275 SCID due to ARTEMIS deficiency
surgical procedures 295197 SD2, Debeer type
95434 357237 SCID due to CARD11 deficiency
SCASI 295199 SD2, Malik type
85297 SCAX3 SCID due to complete RAG1/2 295195 SD2, Vordingborg type
331206
85292 SCAX4 deficiency
295195 SD2a
228003 SCID due to CORO1A deficiency
314978 SCAX5 295197 SD2b
228003 SCID due to coronin-1A deficiency
284400 SCCB 295199 SD2c
98967 SCCD
420573 SCID due to CTPS1 deficiency
93404 SD3
370396 SCCO
275 SCID due to DCLRE1C deficiency
93406 SD5
317425 SCID due to DNA-PKcs deficiency
98967 SCD 84064 SD/THE
397787 SCID due to IKK2 deficiency
420402 SCD syndrome 263463 SDCD, CHST3 type
449280 Scedosporiosis
504523 SCID due to LAT deficiency
168577 sdCHC
280142 SCID due to LCK deficiency
399329 SCFE 300869 SDRPL
398069 Schaaf-Yang syndrome SCID due to lymphocyte-specific
280142 811 SDS
protein tyrosine kinase deficiency
1383 Schaap-Taylor-Baraitser syndrome 373 SDYS
33355 SCID with leukopenia
71212 SCHAD deficiency 158029 Sea-blue histiocytosis
275 SCID, Athabascan type
370039 Schauder syndrome 1778 Seaver-Cassidy syndrome
275 SCID, Athabaskan type
93474 Scheie syndrome Sebaceous nevus-central nervous
276 SCIDX1
2353 Schilbach-Rott syndrome system malformations-aplasia cutis
185 Scimitar syndrome 370052
59298 Schilder disease congenital-limbal dermoid-
70573 SCLC pigmented nevus syndrome
59298 Schilder's disease
352763 Scleredema Sebaceous nevus-CNS
1830 Schimke immuno-osseous dysplasia
75840 Scleroatonic muscular dystrophy malformations-aplasia cutis
1830 Schimke syndrome 370052
384 Scleroatrophic syndrome congenital-limbal dermoid-
2612 Schimmelpenning syndrome
167635 Scleromyxedema pigmented nevus syndrome
3137 Schindler disease
Scleromyxedema without →182050 Sebastian syndrome
79279 Schindler disease type 1 90400
monoclonal gammopathy 841 Sebocystomatosis
79280 Schindler disease type 2
Sclerosing dysplasia of bone- Seborrhea-like dermatitis with
79281 Schindler disease type 3 168606
75325 ichthyosis-premature ovarian failure psoriasiform elements
3138 Schinzel syndrome syndrome 79480 Seborrheic pemphigus
798 Schinzel-Giedion syndrome 63999 Sclerosing mediastinitis 98873 SEC23B-CDG
63862 Schisis association 238593 Sclerosing mesenteritis 808 Seckel syndrome
1247 Schistosomiasis 100001 Sclerosing perineurioma 141022 Second branchial cleft anomaly
799 Schizencephaly 3152 Sclerosteosis 141022 Second branchial cleft cyst
98973 Schlichting dystrophy 384 Sclerotylosis 141022 Second branchial cleft fistula
3143 Schmidt syndrome 188 SCLS 139420 Secondary acute transverse myelitis
2252 Schmitt-Gillenwater-Kelly syndrome 1671 SCM type 1 85445 Secondary amyloidosis
3144 Schneckenbecken dysplasia 331176 SCN4 Secondary central precocious
37748 Schnitzler syndrome 169618
466677 Scorpion envenomation puberty
98967 Schnyder corneal dystrophy 832 SCOT deficiency 529864 Secondary erythermalgia
ORPHA ORPHA ORPHA
529864 Secondary erythromelalgia Selective immunoglobulin M Sensorineural hearing loss with
331235 217622
314962 Secondary HES deficiency dilated cardiomyopathy
Secondary hypereosinophilic Selective pituitary resistance to Sensorineural hearing loss-cataract-
314962 165994
syndrome thyroid hormone 2663 skeletal anomalies-cardiomyopathy
Secondary hypertrophic 99798 Selective tooth agenesis syndrome
2615
osteoperiostosis with pernio 281122 Self-healing collodion baby Sensorineural hearing loss-early
66633
Secondary hypoparathyroidism due 90397 Self-healing papular mucinosis graying-essential tremor syndrome
140286
to impaired parathormon secretion Self-healing squamous epithelioma Sensorineural hearing loss-
65748 97229
Secondary intestinal type 1 pontobulbar palsy syndrome
90363
lymphangiectasia 281122 Self-improving collodion baby Sensory ataxic neuropathy-
Secondary non-traumatic avascular 281122 Self-improving congenital ichthyosis 70595 dysarthria-ophthalmoparesis
399180 syndrome
necrosis →1768 Selig-Benacerraf-Greene syndrome
399180 Secondary non-traumatic AVN 477 Senter syndrome
3232 Sellars-Beighton syndrome
3452 Secondary non-tropical sprue 100069 Semantic dementia
90118 SEOAN due to MFN2 deficiency
439746 Secondary PAN 228374 SEOAN due to NEFL deficiency
Semantic primary progressive
100069 70594 Sepiapterin reductase deficiency
420259 Secondary PAP aphasia
439746 Secondary periarteritis nodosa 100069 Semantic variant PPA 90051 Sepsis in premature infants
439746 Secondary polyarteritis nodosa 93356 SEMD type 2 180154 Septate vagina
Secondary pulmonary alveolar 171866 SEMD, aggrecan type Septic phlebitis of the internal
420259 137839
proteinosis 168454 SEMD, Geneviève type jugular vein
Secondary pulmonary 93351 SEMD, Irapa type
3157 Septo-optic dysplasia
99930
hemosiderosis 3157 Septo-optic dysplasia spectrum
156728 SEMD, MATN3-related
447774 Secondary sclerosing cholangitis 280195 Septopreoptic holoprosencephaly
156728 SEMD, matrilin-3 type
95427 Secondary short bowel syndrome 93356 SEMD, Missouri type
280195 Septopreoptic HPE
99857 Secondary syringomyelia 139466 SERKAL syndrome
93352 SEMD, Shohat type
364055 SECORD 43116 Serotonergic syndrome
93359 SEMD-JL
459051 SED, Stanescu type 43116 Serotonin storm
93360 SEMD-MD
163654 SED-BDS 168454 SEMDG
43116 Serotonin syndrome
94068 SEDC 43116 Serotonin toxicity
93359 SEMDJL1
567 Sedlackova syndrome 43116 Serotonin toxidrome
93360 SEMDJL2
647 Seemanova syndrome type 2 Semicircular canal dehiscence Serotonin-producing
506090
2528 Seemanova-Lesny syndrome 420402 neuroendocrine tumor of pancreas
syndrome
251618 SEGA 506090 Serotonin-producing pancreatic NET
90160 Semicircular lipoatrophy
2759 Seghers syndrome 220386 Semilobar holoprosencephaly Serotonin-producing pancreatic
506090
Segmental odontomaxillary neuroendocrine tumor
67039 842 Seminoma of testis
dysplasia 506090 Serotonin-producing PNET
Seminomatous germ cell tumor of
Segmental outgrowth-lipomatosis- 842 Serous cystadenocarcinoma of
testis 424073
137608 arteriovenous malformation- pancreas
329284 SENDA
epidermal nevus syndrome Serous cystadenoma of ovary in
79480 Senear-Usher syndrome 206470
Segmental progressive overgrowth childhood
Senescent T-cells-
314662 syndrome with fibroadipose Serous or mucinous cystadenoma of
lymphadenopathy- 206470
hyperplasia 397596 childhood
immunodeficiency syndrome due to
455 SEI p110delta-activating mutation
168829 Serous surface papillary carcinoma
35069 Seitelberger disease 1369 Sengers syndrome Serpentine fibula-polycystic kidneys
→955
Seizures-intellectual disability due syndrome
79156 2183 Sengers-Hamel-Otten syndrome
to hydroxylysinuria syndrome 514352 Serpentine-like syndrome
330001 Senile systemic amyloidosis
Seizures-scoliosis-macrocephaly 35686 Serpiginous choroiditis
466926 1292 Senior syndrome
syndrome 157798 Serrated polyposis
84081 Senior-Boichis syndrome
Seizures-sensorineural deafness- 75508 Servelle-Martorell syndrome
3156 Senior-Loken syndrome
199343 ataxia-intellectual disability- 199343 SeSAME syndrome
1515 Sensenbrenner syndrome
electrolyte imbalance syndrome 1807 Setleis syndrome
Selective cobalamin malabsorption Sensorineural deafness with dilated
217622 Severe achondroplasia-
35858 cardiomyopathy
with proteinuria 85165 developmental delay-acanthosis
183675 Selective IgG subclass deficiency Sensorineural deafness with
nigricans syndrome
857 imperforate anus and hypoplastic
331235 Selective IgM deficiency
thumbs
ORPHA ORPHA ORPHA
Severe autosomal recessive Severe dermatitis-multiple allergies- Severe intellectual disability-
438207 369992
macrothrombocytopenia metabolic wasting syndrome 420561 aplasia/hypoplasia of thumb and
Severe C12ORF65-related combined Severe dilated cardiomyopathy due hallux syndrome
254930 →300751
oxidative phosphorylation defect to lamin A/C mutation Severe intellectual disability-corpus
254930 Severe C12ORF65-related COXPD Severe dilated cardiomyopathy with callosum agenesis-facial
→300751 466688
314911 Severe Canavan disease or without myopathy dysmorphism-cerebellar ataxia
Severe combined immunodeficiency 98896 Severe dystrophinopathy, Duchenne syndrome
277 due to adenosine deaminase type Severe intellectual disability-
deficiency Severe early-childhood-onset retinal 94066 epilepsy-anal anomalies-distal
364055
Severe combined immunodeficiency dystrophy phalangeal hypoplasia
275 Severe intellectual disability-
due to ARTEMIS deficiency Severe early-onset axonal
Severe combined immunodeficiency 228374 neuropathy due to light 438178 epilepsy-cataract syndrome due to
357237 FAR1 deficiency
due to CARD11 deficiency neurofilament subunit deficiency
Severe combined immunodeficiency 90118 Severe early-onset axonal Severe intellectual disability-
331206 438178 epilepsy-cataract syndrome due to
due to complete RAG1/2 deficiency neuropathy due to MFN2 deficiency
Severe combined immunodeficiency 228374 Severe early-onset axonal fatty acyl-CoA reductase 1 deficiency
228003 Severe intellectual disability-
due to CORO1A deficiency neuropathy due to NEFL deficiency
Severe combined immunodeficiency Severe early-onset obesity-insulin 438178 epilepsy-cataract syndrome due to
228003 peroxisomal disorder
due to coronin-1A deficiency 329249 resistance syndrome due to SH2B1
Severe combined immunodeficiency deficiency Severe intellectual disability-
420573 436141 hypotonia-strabismus-coarse face-
due to CTPS1 deficiency Severe early-onset pulmonary
planovalgus syndrome
Severe combined immunodeficiency 440427 alveolar proteinosis due to MARS
275 deficiency Severe intellectual disability-poor
due to DCLRE1C deficiency
169793 363686 language-strabismus-grimacing face-
Severe combined immunodeficiency Severe factor IX deficiency
317425 long fingers syndrome
due to DNA-PKcs deficiency 169802 Severe factor VIII deficiency
Severe feeding difficulties-failure to Severe intellectual disability-
Severe combined immunodeficiency
397787 progressive postnatal microcephaly-
due to IKK2 deficiency 352577 thrive-microcephaly due to ASXL3 397933
deficiency syndrome midline stereotypic hand
Severe combined immunodeficiency movements syndrome
504523
due to LAT deficiency 79408 Severe generalized RDEB
Severe intellectual disability-
Severe combined immunodeficiency 79408 Severe generalized recessive 404473 progressive spastic diplegia
280142
due to LCK deficiency dystrophic epidermolysis bullosa
syndrome
Severe combined immunodeficiency Severe growth deficiency-
Severe intellectual disability-short
280142 due to lymphocyte-specific protein strabismus-extensive dermal
488627 391307 stature-behavioral abnormalities-
tyrosine kinase deficiency melanocytosis-intellectual disability
facial dysmorphism syndrome
Severe combined immunodeficiency syndrome
33355 Severe lateral tibial bowing with
with leukopenia Severe Hallermann-Streiff-François 324307
2109 short stature
Severe combined syndrome
275 2879 Severe limb deficit
immunodeficiency, Athabascan type 466026 Severe hemolytic anemia due to
G6PD deficiency Severe microbrachycephaly-
Severe combined 1236 intellectual disability-athetoid
275
immunodeficiency, Athabaskan type 169802 Severe hemophilia A cerebral palsy syndrome
Severe congenital encephalopathy 169793 Severe hemophilia B
209370 Severe motor and intellectual
due to MECP2 mutation Severe hereditary thrombophilia 369939 disabilities-sensorineural deafness-
Severe congenital hypochromic 745 due to congenital protein C
300298 dystonia syndrome
anemia with ringed sideroblasts deficiency
Severe myoclonic epilepsy of
Severe congenital hypochromic Severe hereditary thrombophilia 33069
300298 infancy
sideroblastic anemia 743 due to congenital protein S
Severe myoclonus epilepsy of
Severe congenital nemaline deficiency 33069
171430 infancy
myopathy Severe hypotonia-psychomotor
Severe myopia-generalized joint
Severe congenital neutropenia type 467176 developmental delay-strabismus- 527450
laxity-short stature syndrome
99749 cardiac septal defect syndrome
3 Severe neonatal hypotonia-seizures-
Severe congenital neutropenia type Severe infantile axonal neuropathy
331176 98920 314655 encephalopathy syndrome due to
4 with respiratory failure type 1
5q31.3 microdeletion
Severe congenital neutropenia- Severe infantile axonal neuropathy
404521 Severe neonatal lactic acidosis due
331176 pulmonary hypertension-superficial with respiratory failure type 2 397593
to NFS1-ISD11 complex deficiency
venous angiectasis syndrome Severe intellectual disability and
280763 Severe neonatal-onset
progressive spastic paraplegia 209370
encephalopathy with microcephaly
ORPHA ORPHA ORPHA
Severe neurodegenerative 810 Shigellosis Short stature-auditory canal atresia-
363400
syndrome due to BSCL2 deficiency 158014 SHML 397623 mandibular hypoplasia-skeletal
Severe neurodegenerative 1008 Shokeir syndrome anomalies syndrome
363400
syndrome with lipodystrophy 99063 Shone complex Short stature-brachydactyly-
Severe neurodevelopmental 251515 Short Achilles tendon 464288 obesity-global developmental delay
disorder with feeding difficulties- Short chain acyl-CoA dehydrogenase syndrome
500545 26792
stereotypic hand movement- deficiency Short stature-craniofacial
bilateral cataract Short fifth metacarpals-insulin
2994 anomalies-genital hypoplasia
216812 Severe osteogenesis imperfecta 66518 syndrome
resistance syndrome
Severe Short limb skeletal dysplasia with Short stature-deafness-neutrophil
2866
411543 phosphoribosylpyrophosphate 935 dysfunction-dysmorphism syndrome
SCID
synthetase superactivity Short rib-polydactyly syndrome type Short stature-delayed bone age due
280210 Severe PMD 93270 171706 to thyroid hormone metabolism
1
468726 Severe primary trimethylaminuria deficiency
Short rib-polydactyly syndrome type
Severe PRPP synthetase 93269 Short stature-developmental delay-
411543 2 488618
superactivity congenital heart defect syndrome
411543 Severe PRPS1 superactivity 93271 Short stature-facial and skeletal
3
Severe refractory status epilepticus 2332 anomalies-intellectual disability-
163703 Short rib-polydactyly syndrome type
owing to presumed encephalitis 93268 macrodontia syndrome
4
Severe T-cell immunodeficiency- Short stature-intellectual disability-
169095 congenital alopecia-nail dystrophy 498497 →2995 eye anomalies-cleft lip/palate
5
syndrome syndrome
Short rib-polydactyly syndrome,
Severe X-linked intellectual 93268 Short stature-kyphosis-hypoplasia
3078 Beemer-Langer type
disability, Gustavson type 420794 of basal ilia-cone epiphyses-facial
Short rib-polydactyly syndrome, dysmorphism syndrome
Severe X-linked mitochondrial 93269
238329 Majewski type
encephalomyopathy Short stature-locking fingers
Short rib-polydactyly syndrome, 1937
363489 Sex cord-stromal tumor of testis 93270 syndrome
Saldino-Noonan type
Sex reversion-kidneys, adrenal and Short stature-nail dysplasia-
139466 Short rib-polydactyly syndrome, marginal palmoplantar
lung dysgenesis syndrome 93271
Verma-Naumoff type 423454
keratoderma-oral
3162 Sézary lymphoma Short ribs-craniosynostosis-
→1263 hyperpigmentation syndrome
3162 Sézary syndrome polysyndactyly syndrome Short stature-onychodysplasia-facial
488232 SFMMP Short stature due to GHSR
314811 314394 dysmorphism-hypotrichosis
373 SGBS deficiency syndrome
373 SGBS1 Short stature due to growth Short stature-optic atrophy-Pelger-
629 391677
→300496 SGBS2 hormone qualitative anomaly Huët anomaly syndrome
457083 SGF Short stature due to growth Short stature-Pierre Robin
633
2063 SGFLD syndrome hormone resistance 3102 sequence-cleft mandible-hand
35710 SGLT1 deficiency Short stature due to growth anomalies clubfoot syndrome
69076 SGLT2 deficiency 314811 hormone secretagogue receptor Short stature-Pierre Robin
2462 SGS deficiency 3102 syndrome-cleft mandible-hand
798 SGS Short stature due to isolated growth anomalies clubfoot syndrome
632 hormone deficiency with X-linked Short stature-pituitary and
2407 Shabbir syndrome
hypogammaglobulinemia 85442 cerebellar defects-small sella turcica
897 Shah-Waardenburg syndrome
Short stature due to partial GHR syndrome
363523 Shaheen syndrome 314802
deficiency Short stature-valvular heart disease-
29822 Shapiro syndrome 2868
Short stature due to partial growth characteristic facies syndrome
1506 Sharma-Kapoor-Ramji syndrome 314802
hormone receptor deficiency Short stature-webbed neck-heart
809 Sharp syndrome Short stature due to primary acid- 2865
140941 disease syndrome
281122 SHCB labile subunit deficiency Short stature-wormian bones-
91355 Sheehan syndrome 2863
Short stature due to STAT5b dextrocardia syndrome
220465
1147 Sheldon-Hall syndrome deficiency 3163 SHORT syndrome
3329 SHFLD syndrome 2867 Short stature, Brussels type Short tarsus-absence of lower
2440 SHFM 2832
Short stature-advanced bone age- eyelashes syndrome
435804
SHFM associated with aplasia of early-onset osteoarthritis syndrome 251515 Short tendo calcaneus
3329
long bones Short ulna-dysmorphism-hypotonia-
90038 Shiga-like toxin-associated HUS 357175
ORPHA ORPHA ORPHA
Short-lasting unilateral neuralgiform Silver-Russell syndrome due to 488437 SIX2-related frontonasal dysplasia
231144
57145 headache attacks with conjunctival 11p15 microduplication 816 Sjögren-Larsson syndrome
injection and tearing Silver-Russell syndrome due to a 800 SJS
397590
Short-limb skeletal dysplasia with point mutation 800 SJS1
935
severe combined immunodeficiency Silver-Russell syndrome due to an 3206 SJS2
231140
Short/branched-chain acyl-coA imprinting defect of 11p15 95455 SJS-TEN
79157
dehydrogenase deficiency Silver-Russell syndrome due to 506784 SJS/TEN overlap syndrome
231137
Shoulder and girdle defects-familial dup(7)(p11.2p13) 1426 Skeletal dysplasia, Greenberg type
2580
intellectual disability syndrome Silver-Russell syndrome due to Skeletal dysplasia-brachydactyly
Shoulder and thorax deformity- 96182 maternal uniparental disomy of 2565
→392 syndrome
congenital heart disease syndrome chromosome 7
Skeletal dysplasia-epilepsy-short
314795 SHOX-related short stature Silver-Russell syndrome due to 1858
stature syndrome
567 Shprintzen syndrome 231147 maternal uniparental disomy of
Skeletal dysplasia-T-cell
2462 Shprintzen-Goldberg syndrome chromosome 11
508533 immunodeficiency-developmental
3165 Shulman syndrome Silver-Russell syndrome due to delay syndrome
231137
811 Shwachman syndrome trisomy 7p11.2-p13
Skeletal overgrowth-craniofacial
Shwachman-Bodian-Diamond Silver-Russell syndrome due to 477831 dysmorphism-hyperelastic skin-
811 231137
syndrome trisomy 7p11.2p13 white matter lesions syndrome
811 Shwachman-Diamond syndrome 1968 Simosa craniofacial syndrome Skin fragility-woolly hair-
812 Sialidosis type 1 Simosa-Penchaszadeh-Bustos 293165 palmoplantar hyperkeratosis
1968
87876 Sialidosis type 2 syndrome syndrome
91139 Simple cryoglobulinemia Skin fragility-woolly hair-
3166 Sialuria
3166 Sialuria, French type
373 Simpson dysmorphia syndrome 293165 palmoplantar keratoderma
373 Simpson-Golabi-Behmel syndrome syndrome
98920 SIANRF
→33364 SIBIDS syndrome Simpson-Golabi-Behmel syndrome 178475 Skin infectious botulism
373
type 1 178475 Skin toxin-mediated botulism
611 sIBM
Simpson-Golabi-Behmel syndrome 513456 Skraban-Deardorff syndrome
281122 SICI →300496
type 2 52503 SLC6A8 deficiency
232 Sickle cell anemia
SIN3A-related intellectual disability 238459 SLC35A1-CDG
232 Sickle cell disease 500163
syndrome 356961 SLC35A2-CDG
Sickle cell-beta-thalassemia disease SIN3A-related intellectual disability
251359 370943 SLC35A3-CDG
syndrome 500166
syndrome due to a point mutation
Sickle cell-hemoglobin C disease 99843 SLC35C1-CDG
251365 97337 Sinding-Larsen-Johansson disease
syndrome 3144 SLC35D1-CDG
50809 Singh-Williams-McAlister syndrome
Sickle cell-hemoglobin D disease 468699 SLC39A8 deficiency
251370 2286 Single upper central incisor
syndrome 468699 SLC39A8-CDG
439755 Single-organ PAN
Sickle cell-hemoglobin E disease 536 SLE
251375 439755 Single-organ periarteritis nodosa
syndrome 93552 SLE, pediatric onset
439755 Single-organ polyarteritis nodosa
210272 Sickness of disembarkment 3385 Sleeping sickness
85191 Singleton-Merten dysplasia
838 SICRET syndrome 399329 Slipped capital femoral epiphysis
85191 Singleton-Merten syndrome
168593 SIDDT 399329 Slipped upper femoral epiphysis
521390 SINO syndrome
54028 Sideropenic dysphagia 88633 SLK
3167 Siegler-Brewer-Carey syndrome
1260 Sino-auricular heart block
818 SLOS
→244 Siewert syndrome Sinoatrial node dysfunction and
324321 70472 SLSJ-COX deficiency
deafness
369861 SIFD syndrome 3156 SLSN
Sinus histiocytosis with massive
314786 Silent pituitary adenoma 158014 584 Sly disease
lymphadenopathy
71276 Silent sinus syndrome 98849 SM-AHN
890 Sinusoidal obstruction syndrome
3168 Sillence syndrome 98849 SM-AHNMD
247698 Sipple syndrome
60014 Silver staining 70 SMA
3169 Sirenomelia
100998 Silver syndrome 83330 SMA1
2882 Sitosterolemia
813 Silver-Russell dwarfism 83418 SMA2
157769 Situs ambiguous
813 Silver-Russell syndrome 83419 SMA3
157769 Situs ambiguus
Silver-Russell syndrome due to 83420 SMA4
231137 101063 Situs inversus
7p11.2-p13 microduplication 83330 SMA type 1
101063 Situs inversus totalis
Silver-Russell syndrome due to 83418 SMA type 2
231137 488437 SIX2-related FND
7p11.2p13 microduplication
ORPHA ORPHA ORPHA
83419 SMA type 3 Snowflake vitreoretinal Spastic paraparesis-amyopathy-
91496
83420 SMA type 4 degeneration 447753 cataracts-gastroesophageal reflux
83330 SMA type I 3063 Snyder-Robinson syndrome syndrome
83418 SMA type II 3157 SOD Spastic paraparesis-deafness
2815
83419 SMA type III Sodium channelopathy-related syndrome
306577
83420 SMA type IV small fiber neuropathy Spastic paraparesis-vitiligo-
99903 Sodoku 101003 premature graying-characteristic
83330 SMA-I
314394 SOFT syndrome facies syndrome
83418 SMA-II
100002 Soft tissue perineurioma Spastic paraplegia due to
83419 SMA-III
139480 neuropathy target esterase
83420 SMA-IV 2234 Sohval-Soffer syndrome
mutation
486811 SMABF 137608 SOLAMEN syndrome
Spastic paraplegia due to NTE
209335 SMAFK 97230 Solar urticaria 139480
mutation
363447 SMALED Solid pseudopapillary carcinoma of
424065 Spastic paraplegia due to partial
209341 SMALED1 pancreas 431329
TFG deficiency
363454 SMALED2 Solid pseudopapillary neoplasm of
424065 99015 Spastic paraplegia type 2
284400 Small cell bladder cancer the pancreas
99013 Spastic paraplegia type 7
83468 Solitary bone cyst
284400 Small cell bladder carcinoma Spastic paraplegia-amyotrophy of
2126 Solitary fibrous tumor 100998
284400 Small cell carcinoma of the bladder hands and feet
370396 Small cell carcinoma of the ovary
79455 Solitary mastocytoma
Spastic paraplegia-epilepsy-
Solitary median maxillary central →71277
Small cell carcinoma of the urinary 2286 intellectual disability syndrome
284400 incisor syndrome
bladder Spastic paraplegia-facial-cutaneous
100035 Solitary necrotic nodule of the liver 2819
70573 Small cell lung cancer lesions syndrome
370396 Small cell ovarian carcinoma
86855 Solitary plasmacytoma Spastic paraplegia-glaucoma-
209964 Solitary rectal ulcer syndrome 2818
Small infarctions of cochlear, retinal intellectual disability syndrome
838 2612 Solomon syndrome
and encephalic tissue Spastic paraplegia-intellectual
1201 Small intestinal atresia 314769 Somatolactotropinoma 521390 disability-nystagmus-obesity
67038 314769 Somatomammotropinoma syndrome
Small lymphocytic lymphoma
543 Small non-cleaved cell lymphoma 314769 Somatoprolactinoma Spastic paraplegia-intellectual
1509 Small patella syndrome 97283 Somatostatinoma 2822 disability-thin corpus callosum
SMARCA4-deficient sarcoma of 2564 Sommer-Hines syndrome syndrome

466962 1064 Sommer-Rathbun-Battles syndrome Spastic paraplegia-nephritis-
thorax 2820
SMARCA4-deficient thoracic 1529 Sommer-Young-Wee-Frye syndrome deafness syndrome
466962 Spastic paraplegia-neuropathy-
sarcoma 1355 Sonoda syndrome 2821
98920 SMARD1 391677 SOPH syndrome poikiloderma syndrome
404521 SMARD2 Sorsby pseudoinflammatory fundus 320406 Spastic paraplegia-optic atrophy-
59181 neuropathy syndrome
481 SMAX1 dystrophy
1471 Sorsby syndrome Spastic paraplegia-Paget disease of
1145 SMAX2 329475
821 Sotos syndrome bone syndrome
139557 SMAX3
420179 Sotos syndrome 2 Spastic paraplegia-precocious
98959 SMCD 2826
puberty syndrome
85167 SMD-CRD 98868 Southeast Asian ovalocytosis
Spastic paraplegia-psychomotor
33069 SMEI 352403 SPARCA 464282
retardation-seizures syndrome
93974 Smith-Fineman-Myers syndrome 352403 SPARCA1
Spastic paraplegia-retinal
457485 Sparse hair-short stature-skin 100996
Smith-Kingsmore syndrome 79132 degeneration syndrome
818 Smith-Lemli-Opitz syndrome anomalies syndrome
Spastic paraplegia-severe
819 Smith-Magenis syndrome 279882 Spasmus nutans 464282 developmental delay-epilepsy
178355 Smith-McCort dysplasia Spastic ataxia with congenital syndrome
1182
2286 SMMCI miosis Spastic quadriplegia-retinitis
488168 SMO deficiency Spastic ataxia-corneal dystrophy 3011 pigmentosa-intellectual disability
2572
syndrome syndrome
158775 Smouldering systemic mastocytosis
Spastic ataxia-ocular anomalies Spastic quadriplegia-thin corpus
3198 SMS 2572
syndrome 447997 callosum-progressive postnatal
86854 SMZL
99015 Spastic gait type 2 microcephaly syndrome
449285 Snakebite envenomation
99015 Spastic paraparesis type 2 210141 Spastic quadriplegic cerebral palsy
820 Sneddon syndrome
48377 Sneddon-Wilkinson disease
ORPHA ORPHA ORPHA
Spastic tetraplegia-retinitis 101000 SPG20 268129 Spheroid body myopathy
3011 pigmentosa-intellectual disability 101001 SPG21 Spherophakia-brachymorphia
3449
syndrome 101003 SPG23 syndrome
Spastic tetraplegia-thin corpus 101004 SPG24 306553 Spherulocytosis
447997 callosum-progressive postnatal 101005 SPG25 79264 Spielmeyer-Vogt disease
microcephaly syndrome 101006 SPG26 Spigelian hernia-cryptorchidism
Spasticity-ataxia-gait anomalies 314432
401866 101007 SPG27 syndrome
syndrome 268369 Spina bifida aperta
101008 SPG28
251282 SPAX1 3176
101009 SPG29 Spina bifida-hypospadias syndrome
397946 SPAX2 Spinal arteriovenous metameric
101010 SPG30 53721
314603 SPAX3 syndrome
101011 SPG31
254343 SPAX4 Spinal atrophy-ophthalmoplegia-
171622 SPG32 1217
313772 SPAX5 pyramidal syndrome
171607 SPG34
98 SPAX6 90058 Spinal cord injury
171629 SPG35
1182 SPAX7 Spinal muscular atrophy with
320365 SPG36 1145
527497 SPAX8 arthrogryposis
171612 SPG37
158 SPCD Spinal muscular atrophy with
171617 SPG38 98920
295195 SPD1 respiratory distress type 1
139480 SPG39
295197 SPD2 Spinal muscular atrophy with
320355 SPG41 404521
295199 SPD3 respiratory distress type 2
171863 SPG42
295197 SPD, Debeer type 83420 Spinal muscular atrophy, adult form
320370 SPG43
295199 SPD, Malik type Spinal muscular atrophy-Dandy-
320401 SPG44 73245 Walker malformation-cataracts
295195 SPD, Vordingborg type
320396 SPG45 syndrome
Specific anti-polysaccharide
70593 320391 SPG46 Spinal muscular atrophy-progressive
antibody deficiency 2590
306511 SPG48 myoclonic epilepsy syndrome
Spectrin-associated autosomal
352403 320385 SPG49 210584 Spindle cell hemangioendothelioma
recessive cerebellar ataxia
319199 SPG53 210584 Spindle cell hemangioma
Spectrin-associated autosomal
352403 320380 SPG54 Spinocerebellar ataxia and
recessive cerebellar ataxia type 1 1955
Speech and language disorder with 320375 SPG55 erythrokeratodermia
209908 320411 SPG56 Spinocerebellar ataxia autosomal
orofacial dyspraxia 412057
209908 Speech-language disorder type 1 431329 SPG57 recessive type 16
→2909 Spellacy-Gibbs-Watts syndrome 397946 SPG58 Spinocerebellar ataxia autosomal
453521
→71277 SPEMR 401795 SPG59 recessive type 17
1855 SPENCD 401800 SPG60 Spinocerebellar ataxia autosomal
404493
401780 SPG61 recessive type 23
→1855 SPENCDI
401785 SPG62 98755 Spinocerebellar ataxia type 1
99865 Spermatocytic seminoma
306617 SPG1
99015 SPG2
320396 SPG65 Spinocerebellar ataxia type 3,
100985 SPG4 276238
401815 SPG66 Joseph type
100986 SPG5A
401820 SPG67 Spinocerebellar ataxia type 3,
100988 SPG6 276244
Machado type
99013 SPG7 320406 SPG68
98765 Spinocerebellar ataxia type 4
100989 SPG8 →320406 SPG68
100991 SPG10 401830 SPG69
2822 SPG11 401835 SPG70
100993 SPG12 401840 SPG71
100994 SPG13 401849 SPG72
100995 SPG14 444099 SPG73
100996 SPG15 468661 SPG74
100997 SPG16 459056 SPG75
100998 SPG17 488594 SPG76
209951 SPG18 466722 SPG77
98769 Spinocerebellar ataxia type 15/16
100999 SPG19 513436 SPG78
→98769 Spinocerebellar ataxia type 16
ORPHA ORPHA ORPHA
98759 Spinocerebellar ataxia type 17 Split hand-split foot-deafness Spondyloepimetaphyseal dysplasia
71271 93360
98771 Spinocerebellar ataxia type 18 syndrome with multiple dislocations
98772 Spinocerebellar ataxia type 19/22 Split hand-urinary anomalies-spina Spondyloepimetaphyseal dysplasia
2437 93360
101110 Spinocerebellar ataxia type 20 bifida syndrome with multiple dislocations, Hall type
98773 Spinocerebellar ataxia type 21 Split hand/foot malformation with Spondyloepimetaphyseal dysplasia,
3329 171866
→98772 Spinocerebellar ataxia type 22 long bone deficiency aggrecan type
101108 Spinocerebellar ataxia type 23 Split hand/split foot-mandibular Spondyloepimetaphyseal dysplasia,
958 93347
101111 Spinocerebellar ataxia type 25 hypoplasia syndrome anauxetic type
101112 Spinocerebellar ataxia type 26 Split hand/split foot-nystagmus Spondyloepimetaphyseal dysplasia,
2329 168448
syndrome Bieganski type
1756 Split notochord syndrome Spondyloepimetaphyseal dysplasia,
101109 Spinocerebellar ataxia type 28 168454
Split-foot malformation-mesoaxial Geneviève type
polydactyly syndrome Spondyloepimetaphyseal dysplasia,
Split-foot malformation-mesoaxial Handigodu type
217012 Spinocerebellar ataxia type 31 488232 polydactyly-nail abnormalities- Spondyloepimetaphyseal dysplasia,
sensorineural hearing loss syndrome Irapa type
1955 Spinocerebellar ataxia type 34 Split-hand/foot malformation Spondyloepimetaphyseal dysplasia,
276193 370015
Spinocerebellar ataxia type 35 3329 associated with aplasia of long Isidor type
276198 Spinocerebellar ataxia type 36 bones Spondyloepimetaphyseal dysplasia,
156728
363710 Spinocerebellar ataxia type 37 320406 SPOAN matrilin-3 type
423296 Spinocerebellar ataxia type 38 93357 SPONASTRIME dysplasia Spondyloepimetaphyseal dysplasia,
93347
423275 Spinocerebellar ataxia type 40 Spondylar and nasal changes with Menger type
458798 Spinocerebellar ataxia type 41 93357 striations of the metaphyses Spondyloepimetaphyseal dysplasia,
93356
458803 Spinocerebellar ataxia type 42 (SPONASTRIME) dysplasia Missouri type
497764 Spinocerebellar ataxia type 43 1190 Spondylo-humero-femoral dysplasia Spondyloepimetaphyseal dysplasia,
93282
Spinocerebellar ataxia with altered Spondylo-megaepiphyseal- Pakistani type
363710 228387
vertical eye movements metaphyseal dysplasia Spondyloepimetaphyseal dysplasia,
93282
Spinocerebellar ataxia with axonal 85194 Spondylo-ocular syndrome PAPSS2 type
94124
neuropathy type 1 3180 Spondylocamptodactyly syndrome Spondyloepimetaphyseal dysplasia,
93352
Spinocerebellar ataxia with axonal 3275 Spondylocarpotarsal synostosis Shohat type
64753
neuropathy type 2 Spondylocostal dysostosis-anal Spondyloepimetaphyseal dysplasia,
93357
254881 Spinocerebellar ataxia with epilepsy 94095 atresia-genitourinary malformation Sponastrime type
276241 Spinocerebellar ataxia, Thomas type syndrome Spondyloepimetaphyseal dysplasia-
168451
Spinocerebellar ataxia-amyotrophy- Spondylocostal dysostosis- abnormal dentition syndrome
2074 Spondyloepimetaphyseal dysplasia-
deafness syndrome 329252 hypospadias-intellectual disability 168443
Spinocerebellar ataxia- syndrome hypotrichosis syndrome
1185 Spondyloepimetaphyseal dysplasia-
dysmorphism syndrome 1855 Spondyloenchondrodysplasia
Spinocerebellar degeneration- Spondyloenchondrodysplasia with 93358 short limb-abnormal calcification
3177 →1855 syndrome
corneal dystrophy syndrome immune dysregulation
99903 Spirillary rat-bite fever 1855 Spondyloenchondromatosis Spondyloepiphyseal dysplasia
94068
757 Spitzer-Weinstein syndrome Spondyloepimetaphyseal dysplasia congenita
93346 93284 Spondyloepiphyseal dysplasia tarda
300869 Splenic diffuse red pulp lymphoma congenita, Strudwick type
Splenic diffuse red pulp small B-cell Spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia tarda,
93356 163665
300869 type 2 Kohn type
lymphoma
86854 Splenic marginal zone lymphoma Spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia tarda-
93360 1159
with joint laxicity, Hall type progressive arthropathy syndrome
Splenogonadal fusion-limb defects-
2063 Spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia with
micrognathia syndrome 93359
with joint laxity 263463 congenital joint dyslocations, CHST3
Splenomegaly-neutropenia-
47612 Spondyloepimetaphyseal dysplasia type
rheumatoid arthritis syndrome 93359
with joint laxity type 1 Spondyloepiphyseal dysplasia, Byers
1671 Split cord malformation type 1 →93284
Spondyloepimetaphyseal dysplasia type
Split foot deformity-mandibulofacial 93360
2439 with joint laxity type 2 Spondyloepiphyseal dysplasia,
dysostosis syndrome 163654
Spondyloepimetaphyseal dysplasia Cantu type
2440 Split hand foot malformation 93359
with joint laxity, Beighton type Spondyloepiphyseal dysplasia,
Split hand with obstructive 93283
Spondyloepimetaphyseal dysplasia Kimberley type
2437 uropathy, spina bifida and 93360
diaphragmatic defects with joint laxity, leptodactylic type
ORPHA ORPHA ORPHA
Spondyloepiphyseal dysplasia, Spondylometaphyseal dysplasia- Sporadic
163668
MacDermot type 168552 bowed forearms-facial dysmorphism 276621 pheochromocytoma/secreting
Spondyloepiphyseal dysplasia, syndrome paraganglioma
263482
Maroteaux type Spondylometaphyseal dysplasia- 443057 Sporadic porphyria cutanea tarda
85167
Spondyloepiphyseal dysplasia, cone-rod dystrophy syndrome 276627 Sporadic secreting paraganglioma
163649
Nishimura type Spondyloperipheral dysplasia-short 826 Sporotrichosis
1856
Spondyloepiphyseal dysplasia, ulna syndrome 464282 SPPRS syndrome
→263463
Omani type 141 Spongy degeneration of the brain 70594 SPR deficiency
Spondyloepiphyseal dysplasia, 54260 Spongy myocardium 94068 Spranger-Wiedemann disease
163662
Reardon type Spontaneous cerebrospinal fluid 3181 Sprengel deformity
443180
Spondyloepiphyseal dysplasia, leak 70476 Spring catarrh
459051
Stanescu type Spontaneous intracranial 234 Sprinz-Nelson syndrome
443180
Spondyloepiphyseal dysplasia- hypotension 3198 SPS
163654 brachydactyly-speech disorder 29822 Spontaneous periodic hypothermia 1509 SPS
syndrome Sporadic adult-onset ataxia of
247234 431255 SPSMA
Spondyloepiphyseal dysplasia- unknown etiology
86884 SPTCL
craniosynostosis-cleft palate- 204 Sporadic CJD
163649 51083 SQTS
cataract-intellectual disability 204 Sporadic Creutzfeldt-Jakob disease
syndrome Squamous cell carcinoma of
Sporadic fetal brain disruption 424996 gallbladder and extrahepatic biliary
Spondyloepiphyseal dysplasia- 1665
sequence tract
163668 myopia-sensorineural deafness
306776 Sporadic hyperekplexia Squamous cell carcinoma of
syndrome 424996
225147 Sporadic IBSN gallblader and EBT
Spondyloepiphyseal dysplasia-
1830 84271 Sporadic idiopathic nephrosis Squamous cell carcinoma of liver
nephrotic syndrome 424975
Sporadic idiopathic steroid-resistant and IBT
nephrotic syndrome Squamous cell carcinoma of liver
→93284 punctate corneal dystrophy 424975
syndrome Sporadic idiopathic steroid-resistant and intrahepatic biliary tract
97555 nephrotic syndrome with collapsing Squamous cell carcinoma of
glomerulopathy pancreas
353298 retinal dystrophy-immunodeficiency
syndrome Sporadic idiopathic steroid-resistant Squamous cell carcinoma of salivary
93222 nephrotic syndrome with diffuse 500481
Spondylometaphyseal dysplasia glands
→1855 mesangial proliferation
with combined immunodeficiency Squamous cell carcinoma of the
Sporadic idiopathic steroid-resistant 424019
Spondylometaphyseal dysplasia anal canal
1855 93220 nephrotic syndrome with diffuse
with enchondromatous changes Squamous cell carcinoma of the
mesangial sclerosis 213767
Spondylometaphyseal dysplasia cervix uteri
93316 Sporadic idiopathic steroid-resistant
with severe genu valgum Squamous cell carcinoma of the
93218 nephrotic syndrome with focal 423994
Spondylometaphyseal dysplasia, A4 colon
168555 segmental glomerulosclerosis
type Squamous cell carcinoma of the
Sporadic idiopathic steroid-resistant 213716
Spondylometaphyseal dysplasia, corpus uteri
93316 93218 nephrotic syndrome with focal
Algerian type Squamous cell carcinoma of the
segmental hyalinosis 99977
Spondylometaphyseal dysplasia, esophagus
93315 Sporadic idiopathic steroid-resistant
'corner fracture' type Squamous cell carcinoma of the
93221 nephrotic syndrome with minimal 494547
Spondylometaphyseal dysplasia, hypopharynx
370019 changes
Czarny-Ratajczak type Squamous cell carcinoma of the
611 Sporadic inclusion body myositis 494550
Spondylometaphyseal dysplasia, larynx
168544 Sporadic infantile bilateral striatal
Golden type 225147 502366 Squamous cell carcinoma of the lip
necrosis
Spondylometaphyseal dysplasia, Squamous cell carcinoma of the
93314 Sporadic infantile striatonigral 500464
Kozlowski type 225147 nasal cavity and paranasal sinuses
degeneration
93316 Sporadic infantile striatonigral 500464
Schmidt type 225147 nasal cavity and sinuses
necrosis
93317 Sporadic olivopontocerebellar 150
Sedaghatian type 227510 nasopharynx
atrophy type 1
Spondylometaphyseal dysplasia, Squamous cell carcinoma of the oral
93315 227510 Sporadic OPCA type 1 502363
Sutcliffe type cavity
276624 Sporadic pheochromocytoma
Squamous cell carcinoma of the oral
457252
tongue
ORPHA ORPHA ORPHA
Squamous cell carcinoma of the Steele-Richardson-Olszewski 3074 Stoll-Géraudel-Chauvin syndrome
500478 240071
oropharynx disease 3201 Stoll-Kieny-Dott syndrome
Squamous cell carcinoma of the 565 Steely hair disease 2878 Stoll-Lévy-Francfort syndrome
398058
penis 565 Steely hair syndrome 168577 Stomatin-deficient cryohydrocytosis
Squamous cell carcinoma of the 273 Steinert disease 98868 Stomatocytic elliptocytosis
424002
rectum 273 Steinert myotonic dystrophy 353253 Stomatodynia
Squamous cell carcinoma of the 3186 Steinfeld syndrome 353253 Stomatopyrosis
423968
small bowel 168953 Stem cell leukemia/lymphoma 337 Stone man syndrome
Squamous cell carcinoma of the Sterile multifocal osteomyelitis with 3204 Stormorken syndrome
423968 210115
small intestine periostitis and pustulosis Stormorken-Sjaastad-Langslet
Squamous cell carcinoma of the 3204
418959 3194 Stern-Lubinsky-Durrie syndrome syndrome
stomach Sternal malformation-vascular
→42775 Straddling and/or overriding mitral
Squamous cell carcinoma of the 99064
494448 dysplasia syndrome valve
vulva 753 Steroid 5-alpha-reductase deficiency Straddling or overriding tricuspid
324737 SRD5A3-CDG 95461
Steroid dehydrogenase deficiency- valve
83601 SREAT 3196
dental anomalies syndrome 1277 Stratton-Garcia-Young syndrome
330001 SSA 461 Steroid sulfatase deficiency 2863 Stratton-Parker syndrome
22 SSADH deficiency Steroid-responsive encephalopathy 295000 Streeter dysplasia
466926 SSM syndrome 83601 associated with autoimmune 99905 Streptobacillary rat-bite fever
2806 SSPE thyroiditis 99918 Streptococcal toxic-shock syndrome
50944 SSPS 93207 Steroid-sensitive MCNS 99918 Streptococcal TSS
370927 SSR4-CDG Steroid-sensitive nephrotic
→69061 66529 Stress cardiomyopathy
2323 SSS syndrome without renal biopsy 90041 Stress erythrocytosis
36236 SSSS 909 Sterol 27-hydroxylase deficiency 90041 Stress polycythemia
83484 St. Louis encephalitis 46059 Sterol C5-desaturase deficiency 50942 Striate palmoplantar keratoderma
STAG1-related intellectual 488168 Sterol-C4-methyl oxidase deficiency 137599 Stromal keratitis
502434 disability-facial dysmorphism- 36426 Stevens-Johnson syndrome 213711 Stromal sarcoma of the corpus uteri
gastroesophageal reflux syndrome Stevens-Johnson syndrome/toxic 506307 Stromme syndrome
1798 Stanescu osteosclerosis 506784 epidermal necrolysis overlap
76 Strongyloidiasis
3235 Stapedo-vestibular ankylosis syndrome
100984 Strümpell disease
Stapes ankylosis with broad thumbs Stevens-Johnson syndrome/toxic
140917 95455 370921 STT3A-CDG
and toes epidermal necrolysis spectrum
370924 STT3B-CDG
Staphylococcal necrotizing Stevens-Johnson/TEN overlap
36238 506784 328 Stuart-Prower factor deficiency
pneumonia syndrome
Staphylococcal scalded skin Stevens-Johnson/toxic epidermal 3205 Sturge-Weber syndrome
36236 506784 3205 Sturge-Weber-Dimitri syndrome
syndrome necrolysis overlap syndrome
36235 Staphylococcal scarlet fever 828 Stickler syndrome 3205 Sturge-Weber-Krabbe angiomatosis
Staphylococcal toxic-shock 90653 Stickler syndrome type 1 3205 Sturge-Weber-Krabbe syndrome
99919
syndrome 90654 Stickler syndrome type 2 3206 Stüve-Wiedemann dysplasia
99919 Staphylococcal TSS 166100 Stickler syndrome type 3 3206 Stüve-Wiedemann syndrome
140952 STAR syndrome 166100 Stickler syndrome, non-ocular type 166277 Suarez-Stickler syndrome
827 Stargardt 1 3197 Stiff baby syndrome 101029 Sub-cortical nodular heterotopia
827 Stargardt disease 443804 Stiff leg syndrome Subacute angiohypertrophic
79093
85146 Stark-Kaeser syndrome 3198 Stiff man syndrome myelomalacia
166427 Startle epilepsy Stiff person syndrome and related Subacute ascending necrotizing
3198 79093
391311 STAT1 deficiency disorders myelitis
2314 STAT3 deficiency 2833 Stiff skin syndrome Subacute cutaneous lupus
163525
STAT3-related early-onset 85414 Still disease erythematosus
438159 Subacute inclusion body
multisystem autoimmune disease 233 Stilling-Turk-Duane syndrome 2806
Static encephalopathy of childhood encephalitis
329284
3199 Stimmler syndrome
with neurdegeneration in adulthood Subacute inflammatory
STING-associated vasculopathy with 206594
425120 demyelinating polyneuropathy
841 Steatocystoma multiplex onset in infancy
Steatocystoma multiplex-natal Subacute inflammatory
3184 Stoelinga-de Koomen-Davis
2972 206594 demyelinating
teeth syndrome syndrome
polyradiculoneuropathy
438117 Steel syndrome 3200 Stoll-Alembik-Finck syndrome
ORPHA ORPHA ORPHA
98824 Subacute myeloid leukemia 2752 Sugarman syndrome 391351 SURF1-related CMT4
79093 Subacute necrotizing myelitis 498602 Sugarman-Hager-Kulik syndrome SURF1-related severe demyelinating
391351
Subacute sclerosing 3412 Sujansky-Leonard syndrome Charcot-Marie-Tooth disease
2806
leukoencephalitis Sulfite oxidase deficiency due to 838 Susac syndrome
99732
2806 Subacute sclerosing panencephalitis molybdenum cofactor deficiency Susceptibility to infection due to
331226
Subacute spongiform Sulfite oxidase deficiency due to TYK2 deficiency
356 encephalopathy, Gerstmann- 308386 molybdenum cofactor deficiency Susceptibility to localized juvenile
447740
Straussler type type A periodontitis
Subaortic course of brachiocephalic Sulfite oxidase deficiency due to Susceptibility to respiratory
99113
vein 308393 molybdenum cofactor deficiency 169085 infections associated with CD8alpha
99113 Subaortic course of innominate vein type B chain mutation
Subaortic stenosis-short stature Sulfite oxidase deficiency due to Susceptibility to viral and
3191 391311
syndrome 308400 molybdenum cofactor deficiency mycobacterial infections
48377 Subcorneal pustular dermatitis type C 3193 SVAS
48377 Subcorneal pustular dermatosis 99731 Sulfocysteinuria 86813 Sveinsson chorioretinal atrophy
99796 Subcortical band heterotopia Summerskill-Walshe-Tygstrup 3243 Sweet syndrome
65682
313808 Subcortical gliosis of Neumann syndrome 247165 Swift disease
99796 Subcortical laminar heterotopia Summertime actinic lichenoid 247165 Swift-Feer disease
254395
Subcutaneous panniculitic T-cell eruption 3205 SWS
86884 3210 Summitt syndrome
lymphoma 242 Swyer syndrome
57145 SUNCT syndrome
Subcutaneous panniculitis-like T-cell 90038 Sxt-HUS
86884 130 SUNDS
lymphoma 306731 Sydenham chorea
Subcutaneous spherulocystic 455 Superficial epidermolytic ichthyosis 1570 Symbrachydactyly of hands and feet
306553
disease Superficial granular corneal 60015 Symmetric parietal foramina
98961
Subependymal giant cell dystrophy 1314 Symmetrical thalamic calcifications
251618
astrocytoma Superficial hemosiderosis of the 79098 Sympathetic ophthalmia
247245
101030 Subependymal nodular heterotopia central nervous system
79098 Sympathetic uveitis
251639 Subependymoma Superficial hemosiderosis of the
247245 Symphalangism with multiple
Subepithelial amyloidosis of the CNS 3246
98957 anomalies of hands and feet
cornea 79490 Superficial lymphangioma
3250 Symphalangism, Cushing type
Subepithelial mucinous corneal 79490 Superficial lymphatic malformation
98959 Symphalangism-brachydactyly
dystrophy 247245 Superficial siderosis 3237
syndrome
155878 Submucosal cleft palate Superficial siderosis of the central Symptomatic form of classic
247245
3190 Subpulmonary stenosis nervous system 465508
hemochromatosis
1606 Subtelomeric 1p36 deletion 247245 Superficial siderosis of the CNS Symptomatic form of Coffin-Lowry
93942 Superior celosomia 276630
96168 Subtelomeric deletion 13q34 syndrome in female carriers
1398 Subtotal absence of cerebellum 88633 Superior limbic keratoconjunctivitis Symptomatic form of fragile X
155884 Superior palpebral coloboma 449291
180129 Subtotal septate uterus syndrome in female carrier
→2609 Succinic acidemia 180182 Supernumerary breasts Symptomatic form of
465508
Succinic semialdehyde 96170 Supernumerary der(22) syndrome hemochromatosis type 1
22
dehydrogenase deficiency 141096 Supernumerary nostril Symptomatic form of hemophilia A
177926
Succinyl-CoA acetoacetate 295002 Supernumerary phalanges in female carriers
832
transferase deficiency 295142 Supernumerary phalanges, bilateral Symptomatic form of hemophilia B
177929
Succinyl-CoA:3-ketoacid CoA Supernumerary phalanges, in female carriers
832 295140
transferase deficiency unilateral Symptomatic form of HFE-related
465508
Succinyl-CoA:3-oxoacid CoA 295002 Supernumerary phalanx hereditary hemochromatosis
832
transferase deficiency 295142 Supernumerary phalanx, bilateral Symptomatic form of muscular
Sudanophilic leukodystrophy, 295140 Supernumerary phalanx, unilateral 206546 dystrophy of Duchenne and Becker
702
Paelizeus-Merzbacher type 1461 Superoinferior ventricles in female carriers
Sudden infant death-dysgenesis of 764 Suppurative myositis Synactyly-camptodactyly and
168593
the testes syndrome 466695 Supratip dysplasia
357332 clinodactyly of fifth fingers-bifid
Sudden unexplained nocturnal halluces syndrome
130 3193 Supravalvular aortic stenosis
death syndrome Synaptic congenital myasthenic
3192 Supravalvular pulmonary stenosis 98915
399329 SUFE syndromes
SURF1-related Charcot-Marie-Tooth
498602 Sugarman brachydactyly 391351 93404 Syndactyly of fingers 4 and 5
disease type 4
ORPHA ORPHA ORPHA
93402 Syndactyly type 1 3434 Syndromic microphthalmia type 8 Systemic EBV+ T-cell LPD of
364033
295193 Syndactyly type 1, Castilla type 2470 Syndromic microphthalmia type 9 childhood
295189 Syndactyly type 1, Lueken type 77299 Syndromic microphthalmia type 10 Systemic EBV-positive T-cell
295191 Syndactyly type 1, Montagu type Syndromic 364033 lymphoproliferative disease of
295187 Syndactyly type 1, Weidenreich type 178364 microphthalmia/anophthalmia due childhood
295187 Syndactyly type 1a to OTX2 mutation Systemic Epstein-Barr virus-positive
Syndromic multisystem 364033 T-cell lymphoproliferative disease of
295189 Syndactyly type 1b
228426 autoimmune disease due to Itch childhood
295191 Syndactyly type 1c
deficiency 401996 Systemic karyomegaly
295193 Syndactyly type 1d
98606 Syndromic orbital border hypoplasia 536 Systemic lupus erythematosus
93403 Syndactyly type 2
Syndromic recessive X-linked Systemic mastocytosis with an
93404 Syndactyly type 3 281090
ichthyosis 98849 associated clonal hematologic non-
281090 Syndromic RXLI mast cell lineage disease
Syndromic sensorineural deafness Systemic mastocytosis with
457223 due to combined oxidative associated hematologic neoplasm
3258 Syndactyly type 7 phosphorylation defect Systemic monochloroacetate
Syndromic sensorineural deafness poisoning
due to COXPD 439762 Systemic PAN
157801 Syndactyly, Malik-Percin type Syndromic sensorineural hearing 439762 Systemic periarteritis nodosa
295012 Syndactyly, mitten type 457223
loss due to COXPD 439762 Systemic polyarteritis nodosa
Syndactyly-camptodactyly and Syndromic X-linked intellectual 85414 Systemic polyarthritis
357332 clinodactyly of fifth fingers-bifid toes 85274
disability 7 Systemic primary carnitine
syndrome 158
Syndromic X-linked intellectual deficiency
85279
Syndactyly-ectodermal dysplasia- disability due to JARID1C mutation 90291 Systemic scleroderma
3253
cleft/lip palate Syndromic X-linked intellectual 90291 Systemic sclerosis
Syndactyly-nystagmus syndrome 85295
294026 disability type 10 220407 Systemic sclerosis sine scleroderma
due to 2q31.1 microduplication Syndromic X-linked intellectual
85286 85414 Systemic-onset JIA
Syndactyly-nystagmus syndrome disability type 11
294026 Systemic-onset juvenile idiopathic
due to dup(2)(q31.1) 319332 SYNE1-related AMC 85414
arthritis
Syndactyly-nystagmus syndrome SYNE1-related arthrogryposis
294026 319332 SYT1-related neurodevelopmental
due to trisomy 2q31.1 multiplex congenita 522077
disorder
Syndactyly-polydactyly-ear lobe 3263 Syngnathia-cleft palate syndrome
3259 134 T2 deficiency
syndrome Syngnathia-multiple anomalies
3262 99861 T-ALL
Syndactyly-preaxial polydactyly- syndrome
85203 T-B+ SCID due to
sternal deformity syndrome 35098 Synostotic plagiocephaly 169160
CD3delta/CD3epsilon/CD3zeta
Syndactyly-telecanthus-anogenital 3273 Synovial sarcoma
140952 169157 T-B+ SCID due to CD45 deficiency
and renal malformations syndrome
3273 Synovialosarcoma T-B+ SCID due to gamma chain
→1159 Syndesmodysplasic dwarfism 276
Synovitis-acne-pustulosis- deficiency
Syndrome of ocular and facial 793
2143 hyperostosis-osteitis syndrome T-B+ SCID due to IL-7Ralpha
anomalies, telecanthus and deafness 169154
93403 Synpolydactyly deficiency
1447 Syndrome r(4)
295195 Synpolydactyly type 1 35078 T-B+ SCID due to JAK3 deficiency
52 Syndromic bile duct paucity
295197 Synpolydactyly type 2 T-B+ severe combined
Syndromic bile duct paucity due to a
261619 295199 Synpolydactyly type 3 169160 immunodeficiency due to
JAG1 point mutation
295197 Synpolydactyly, Debeer type CD3delta/CD3epsilon/CD3zeta
Syndromic bile duct paucity due to a
261629 295199 Synpolydactyly, Malik type T-B+ severe combined
NOTCH2 point mutation
295195 Synpolydactyly, Vordingborg type 169157 immunodeficiency due to CD45
Syndromic bile duct paucity due to deficiency
261600 3275 Synspondylism
monosomy 20p12
93926 Syntelencephaly T-B+ severe combined
84064 Syndromic diarrhea
840 Syringadenoma papilliferum
276 immunodeficiency due to gamma
Syndromic diarrhea/Tricho-hepato- chain deficiency
84064 840 Syringocystadenoma papilliferum
enteric syndrome T-B+ severe combined
77298 Syndromic microphthalmia type 3 314701 Systemic AL amyloidosis
169154 immunodeficiency due to IL-7Ralpha
85275 Syndromic microphthalmia type 4 188 Systemic capillary leak syndrome deficiency
178364 Syndromic microphthalmia type 5 Systemic cystic angiomatosis-Seip T-B+ severe combined
→528
139471 Syndromic microphthalmia type 6 syndrome 35078 immunodeficiency due to JAK3
2556 Syndromic microphthalmia type 7 deficiency
ORPHA ORPHA ORPHA
T-B+ severe combined Tatton-Brown-Rahman overgrowth 96145 Telomeric deletion 4q
276 404443
immunodeficiency, X-linked syndrome 1627 Telomeric deletion 5q
86871 T-cell chronic lymphocytic leukemia 163654 Tattoo dysplasia 96126 Telomeric deletion 7p
T-cell immunodeficiency due to Taurodontia-absent teeth-sparse 1636 Telomeric deletion 7q36
324294 2731
RHOH deficiency hair syndrome 1642 Telomeric deletion 9p
T-cell immunodeficiency with 3289 Taurodontism 1580 Telomeric deletion 10p
324294
epidermodysplasia verruciformis 99045 Taussig-Bing syndrome 96148 Telomeric deletion 10q
T-cell large granular lymphocyte →33364 Tay syndrome 2308 Telomeric deletion 11q
86872
leukemia 845 Tay-Sachs disease 96149 Telomeric deletion 12q
86872 T-cell LGL leukemia 309239 Tay-Sachs disease, B1 variant 96150 Telomeric deletion 14q
86886 T-cell lymphoma, AILD type Tay-Sachs disease, B variant, adult
309192 531 Telomeric deletion 17p
86871 T-cell prolymphocytic leukemia form 1597 Telomeric deletion 17q
T-cell/histiocyte rich large B cell Tay-Sachs disease, B variant, 96129 Telomeric deletion 19p
300857 309178
lymphoma infantile form 96152 Telomeric deletion 20q
86872 T-LGL Tay-Sachs disease, B variant,
309185 1590 Telomeric deletion13q
86871 T-PLL juvenile form
96069 Telomeric duplication 1p36
1350 Tabatznik syndrome 90650 Taybi syndrome
96070 Telomeric duplication 2p
3384 TAC 2636 Taybi-Linder syndrome
96094 Telomeric duplication 2q
447896 TACH syndrome 98960 TBCD
457077 TAFRO syndrome TBCK-related intellectual disability
488632 96072 Telomeric duplication 4p
567 Takao syndrome syndrome
2905 Takatsuki syndrome 297 TBE
3287 Takayasu arteritis 499004 TBM
487796 Takenouchi-Kosaki syndrome 857 TBS
66529 Tako-Tsubo cardiomyopathy 2967 TCI deficiency
66529 Tako-Tsubo syndrome 103918 TCP
66529 Takotsubo cardiomyopathy 397959 TCR-alpha-beta+ T-cell deficiency
66529 Takotsubo syndrome TCR-alpha-beta-positive T-cell
397959 96102 Telomeric duplication 10q
101028 TALDO deficiency deficiency
2655 TD
Talipes equinovarus-atrial septal
defect-Robin sequence-persistence 1860 TD1
2886 1705 Telomeric duplication 14q
of the left superior vena cava 93274 TD2
syndrome 1707 Telomeric duplication 15q
3352 TDO syndrome
Tall forehead-sparse hair-skin 1519 Teebi hypertelorism syndrome
217335 hyperextensibility-scoliosis 96106 Telomeric duplication 16q
1519 Teebi syndrome
syndrome 3379 Telomeric duplication 17q
2432 Teebi-Al Saleh-Hassoon syndrome
Tall stature-intellectual disability- 1094 Teebi-Kaurah syndrome
404443
facial dysmorphism syndrome 1974 Teebi-Naguib-Alawadi syndrome
Tall stature-intellectual disability- 3291 Teebi-Shaltout syndrome
500095
renal anomalies syndrome 96109 Telomeric duplication 22q
Tel Hashomer camptodactyly
Tall stature-scoliosis-macrodactyly 3292 1762 Telomeric duplication Xq
329191 syndrome
of the great toes syndrome 1620 Telomeric monosomy 3p
Telangiectasia macularis eruptiva
Tall stature-scoliosis-macrodactyly 90389 75565
329191 perstans TEMF
of the halluces syndrome Temperature-sensitive
Telangiectasia-erythrocytosis- 352737
50809 Talo-patello-scaphoid osteolysis oculocutaneous albinism type 1
monoclonal gammopathy-
31150 Tangier disease 284227
perinephric-fluid collections- 284227 TEMPI syndrome
180 Tapetochoroidal dystrophy intrapulmonary shunting syndrome 254516 Temple syndrome
98839 Tappeiner-Pfleger disease Telecanthus-hypertelorism- Temple syndrome due to maternal
3293
3320 TAR syndrome strabismus-pes cavus syndrome 96184 uniparental disomy of chromosome
65250 Tarlov cyst 2885 Telfer-Sugar-Jaeger syndrome 14
2886 TARP syndrome TELO2-related intellectual disability- Temple syndrome due to paternal
488642 254531
99170 Tarsal kink syndrome neurodevelopmental disorder 14q32.2 hypomethylation
1412 Tarsal-carpal coalition syndrome 1596 Telomeric 15q deletion syndrome Temple syndrome due to paternal
254525
371 Tarui disease 36367 Telomeric deletion 1q 14q32.2 microdeletion
280 Telomeric deletion 4p 420561 Temple-Baraitser syndrome
ORPHA ORPHA ORPHA
397 Temporal arteritis 3307 Tetrasomy 18p 3235 Thies-Reis syndrome
Temtamy preaxial brachydactyly 96055 Tetrasomy 21 Thin ribs-tubular bones-
363417 1506
syndrome 9 Tetrasomy X dysmorphism syndrome
1777 Temtamy syndrome 140917 Teunissen-Cremers syndrome 166424 Thinking seizures
1777 Temtamy-Shalash syndrome 746 TFP deficiency →300 Thiolase deficiency
66627 Tenosynovial giant cell tumor 746 TFPD 141030 Third branchial cleft anomaly
137834 Ter Haar syndrome 225123 TFR2-related hemochromatosis 141030 Third branchial cleft cyst
Teratoma of the central nervous TFRC-related combined 141030 Third branchial cleft fistula
252018 476113
system immunodeficiency THOC6-related developmental
141107 Teratoma of the nasopharynx 216729 TGA with cardiac malformation 363444 delay-microcephaly-facial
363483 Teratoma of the testis 99042 TGA with coarctation dysmorphism syndrome
Terminal complement pathway 66627 TGCT 3316 Thomas syndrome
169150
deficiency 3329 TH-SHFM 2547 Thomas-Jewett-Raines syndrome
Terminal osseous dysplasia- 1780 Thakker-Donnai syndrome 2031 Thompson-Baraitser syndrome
88630
pigmentary defects syndrome 3312 Thalidomide embryopathy 614 Thomsen and Becker disease
519410 Terrien marginal degeneration 2655 Thanatophoric dwarfism 2866 Thong-Douglas-Ferrante syndrome
141242 Tessier number 1 cleft 1860 Thoracic dysplasia-hydrocephalus
Thanatophoric dwarfism type 1 1861
141258 Tessier number 4 facial cleft 93274 Thanatophoric dwarfism type 2 syndrome
141261 Tessier number 5 facial cleft Thanatophoric dwarfism-cloverleaf Thoracic outlet compression
93274 97330
141265 Tessier number 6 facial cleft skull syndrome syndrome
141276 Tessier number 7 facial cleft 2655 Thanatophoric dysplasia 97330 Thoracic outlet syndrome
325124 Testicular agenesis 1860 Thanatophoric dysplasia type 1 Thoraco-abdominal enteric
1759
Testicular non seminomatous germ 93274 Thanatophoric dysplasia type 2 duplication
363494
cell tumor 1335 Thoraco-abdominal syndrome
Thanatophoric dysplasia, Glasgow
Testicular non-dysgerminomatous →175 3317 Thoracolaryngopelvic dysplasia
363494 variant
germ cell tumor 500095 Thauvin-Robinet-Faivre syndrome 1803 Thoracolimb dysplasia, Rivera type
983 Testicular regression syndrome 436169 THBD-related bleeding disorder Thoracolumbosacral spina bifida
268384
842 Testicular seminoma 436169 THBD-related coagulopathy aperta
Testicular seminomatous germ cell Theca (steroid-producing) cell Thoracolumbosacral spina bifida
842 268752
tumor 99917 cystica
cancer, not further specified
363489 Testicular sex cord-stromal tumor Theca steroid-producing cell
1803 Thoracomelic dysplasia
363483 Testicular teratoma 99917 malignant tumor of ovary, not Thost-Unna palmoplantar
→2199
3000 Testotoxicosis further specified keratoderma
3299 Tetanus Theodore's superior limbic 300857 THRLBCL
88633 36258 Thromboangiitis obliterans
9 Tetra X keratoconjunctivitis
294971 Tetra-amelia 88633 Theodore's syndrome Thrombocythemia with distal limb
329319
Tetraamelia-multiple malformations Thiamine-responsive BCKD defects
3301 268184 Thrombocytopathy-asplenia-miosis
syndrome deficiency 3204
199310 Tetragametic chimerism Thiamine-responsive branched- syndrome
Tetrahydrobiopterin-responsive 268184 chain alpha-ketoacid dehydrogenase Thrombocytopenia with congenital
293284 67044
HPA/PKU deficiency dyserythropoietic anemia
Tetrahydrobiopterin-responsive Thiamine-responsive Thrombocytopenia-absent radius
199348 3320
293284 hyperphenylalaninemia/phenylketo encephalopathy syndrome
nuria Thiamine-responsive maple syrup Thrombocytopenia-anasarca-fever-
268184 457077
3303 Tetralogy of Fallot urine disease renal insufficiency-organomegaly
2564 Tetramelic monodactyly Thiamine-responsive megaloblastic syndrome
49827 Thrombocytopenia-Robin sequence
3305 Tetraploidy anemia syndrome 3323
Thiamine-responsive megaloblastic syndrome
3309 Tetrasomy 5p
49827 anemia with diabetes mellitus and Thrombocytopenic purpura,
3310 Tetrasomy 9p 3002
sensorineural deafness autoimmune
289522 Tetrasomy 11q24.1
268184 Thiamine-responsive MSUD Thrombomodulin-related bleeding
884 Tetrasomy 12p 436169
Thickened earlobes-conductive disorder
314588 Tetrasomy 15(q25-qter) 2405
deafness syndrome Thrombomodulin-related
314588 Tetrasomy 15q26 436169
98960 Thiel-Behnke corneal dystrophy coagulopathy
485405 Tetrasomy 16p12.1p12.3
3314 Thiemann disease, familial form
ORPHA ORPHA ORPHA
Thrombotic thrombocytopenic 91500 TINU syndrome 858 Toxoplasma embryopathy
54057
purpura 352540 TIO 93164 TPHA
Thumb deformity-alopecia- 480483 TJP2 deficit 444463 TPPII deficiency
2251
pigmentation anomaly syndrome 488618 TKT deficiency TPPII-related immunodeficiency,
294988 Thumb hypodactyly 420561 TMBTS autoimmunity, and
294988 Thumb oligodactyly →1394 TMCO1 defect syndrome 444463 neurodevelopmental delay with
Thumb stiffness-brachydactyly- 420611 TMD impaired glycolysis and lysosomal
1078
intellectual disability syndrome 609 TMD expansion disease
2919 Thurston syndrome 314667 TMEM165-CDG
2950 TPT-PS syndrome
Thygeson superficial punctate 412022 Traboulsi syndrome
519406 466703 TMEM199-CDG
keratopathy TMEM70-related mitochondrial
3346 Tracheal agenesis
83471 Thymic aplasia 1194 3347 Tracheobronchomegaly
encephalo-cardio-myopathy
99868 Thymic carcinoma 99886 TNDM Tracheobronchopathia
3348
99869 Thymic neuroendocrine carcinoma TNF receptor 1-associated periodic osteochondroplastica
97289 32960 3348 Tracheopathia osteoplastica
Thymic neuroendocrine tumor syndrome
3326 Thymic-renal-anal-lung dysplasia 64686 Tolosa-Hunt syndrome 3052 Tranebjaerg-Svejgaard syndrome
99867 Thymoma 1920 Toluene embryopathy 101028 Transaldolase deficiency
263310 Thymoma type A 640 Tomaculous neuropathy 859 Transcobalamin deficiency
263324 Thymoma type AB →314632 Tomé-Brunet-Fardeau syndrome 2967 Transcobalamin I deficiency
263317 Thymoma type B 859 Transcobalamin II deficiency
Tonic pupil-tendon areflexia
454718 2967 Transcobalamin-1 deficiency
Thymoma-immunodeficiency syndrome
169105
syndrome 1547 Tonoki-Ohura-Niikawa syndrome 199247 Transcortin deficiency
3327 Thyrocerebrorenal syndrome 2228 Tooth and nail syndrome Transgrediens et progrediens
495
95716 Thyroid dyshormonogenesis 3460 Torg-Winchester syndrome palmoplantar keratoderma
95712 Thyroid ectopia 1827 Toriello syndrome 495 Transgrediens et progrediens PPK
95719 Thyroid hemiagenesis 3338 Toriello-Carey syndrome Transgrediens palmoplantar
87503
95720 Thyroid hypoplasia 79347 Toriello-Higgins-Miller syndrome keratoderma of Siemens
97285 Thyroid lymphoma 3339 Toriello-Lacassie-Droste syndrome
420611 Transient abnormal myelopoiesis
Thyroid stimulating hormone- Torsade-de-pointes syndrome with Transient acquired pure red cell
91347 98871
secreting pituitary adenoma 51084 aplasia
short coupling interval
2091 Thyroid-renal-digital anomalies Torticollis-keloids-cryptorchidism- Transient bullous dermolysis of the
79411
3341 newborn
Thyrotoxic hypokalemic periodic renal dysplasia syndrome
79102 Transient erythroblastopenia of
paralysis 75326 Tortuosity of retinal arteries 98871
79102 Thyrotoxic periodic paralysis childhood
97330 TOS
91347 Thyrotroph adenoma Transient familial neonatal
2701 Tosti syndrome 2312
2768 Tibia vara Blount hyperbilirubinemia
294971 Total amelia
Tibial aplasia-ectrodactyly Transient hyperammonemia of the
49382 Total color blindness 289877
3329 newborn
syndrome 98994 Total early-onset cataract
93322 Tibial hemimelia Transient hypogammaglobulinemia
180126 Total septate uterus 169139
of infancy
Tibial hemimelia with split 268377 Total spina bifida aperta
3329 Transient infantile
hand/foot malformation 268748 Total spina bifida cystica 300293
hypertriglyceridemia and fatty liver
Tibial hemimelia-ectrodactyly 2796 Touraine-Solente-Gole syndrome
3329 Transient infantile
syndrome
857 Townes syndrome 300293 hypertriglyceridemia and
Tibial hemimelia-polysyndactyly-
988 857 Townes-Brocks syndrome hepatosteatosis
triphalangeal thumb syndrome
537 Toxic epidermal necrolysis Transient left ventricular apical
93322 Tibial longitudinal meromelia 66529
95455 Toxic epidermolysis ballooning syndrome
609 Tibial muscular dystrophy
Toxic maculopathy due to 420611 Transient myeloproliferative disease
295028 Tibio-fibular fusion 279894
antimalarial drugs Transient myeloproliferative
295028 Tibio-fibular synostosis 420611
227972 Toxic oil syndrome syndrome
Tibiofibular terminal transverse Transient neonatal acquired
294981 293173 Toxic pustuloderma
meromelia 391504
230800 Toxin-mediated infectious botulism myasthenia
297 Tick-borne encephalitis
230800 Toxin-mediated infective botulism Transient neonatal autoimmune
42665 Tietz syndrome 391504
3343 Toxocariasis myasthenia gravis
1662 Tight skin contracture syndrome
858 Toxoplasma embryofetopathy
65283 Timothy syndrome
ORPHA ORPHA ORPHA
Transient neonatal cyanosis and Triangular tibia-fibular aplasia Triglyceride deposit
85170 98908
280615 anemia due to Toms River syndrome cardiomyovasculopathy
Hemoglobin 863 Trichinellosis 1308 Trigonocephaly C syndrome
Transient neonatal diabetes 863 Trichinosis Trigonocephaly-bifid nose-acral
99886 3368
mellitus 3352 Tricho-dento-osseous syndrome anomalies syndrome
Transient neonatal glutaric acidemia 84064 Tricho-hepato-enteric syndrome Trigonocephaly-broad thumbs
329942 3365
type 2 Tricho-retino-dento-digital syndrome
1264
Transient neonatal glutaric aciduria syndrome Trigonocephaly-short stature-
329942 3369
type 2 3351 Trichodental syndrome developmental delay syndrome
329942 Transient neonatal MAD deficiency Trichodermodysplasia-dental Trilineage bone marrow failure-
3353 401764
329942 Transient neonatal MADD alterations syndrome developmental delay syndrome
Transient neonatal multiple acyl- 228379 Trichodysplasia spinulosa 3374 Triopia
329942
CoA dehydrogenase deficiency Trichodysplasia-abnormal Triose phosphate-isomerase
868
Transient neonatal myasthenia 1809 dermatoglyphics-intellectual deficiency
391504
gravis disability syndrome 485405 Trip(16)(p12.1p12.3)
Transient Trichodysplasia-amelogenesis 444463 Tripeptidyl-peptidase II deficiency
93164 79129
pseudohypoaldosteronism imperfecta syndrome Triphalangeal thumb-polysyndactyly
2950
Transient reactive Trichodysplasia-xeroderma syndrome
498359 3361
papulotranslucent acrokeratoderma syndrome Triphalangeal thumbs-
2947
Transient tyrosinemia of the 864 Trichofolliculoma brachyectrodactyly syndrome
3402
neonate 84064 Trichohepatoenteric syndrome Triphalangeal thumbs-dislocation of
3133
Transient tyrosinemia of the 499182 Trichomatrical carcinoma patella syndrome
3402
newborn Trichomegaly-retina pigmentary 869 Triple A syndrome
Transitional cell carcinoma of the 3363
213746 degeneration-dwarfism syndrome 415 Triple H syndrome
corpus uteri 3355 Trichoodontoonychial dysplasia 3375 Triple X syndrome
280224 Transitional PMD 3375 Triplo-X syndrome
Trichoodontoonychial dysplasia
488618 Transketolase deficiency 3355 with bone deficiency in 3376 Triploidy
319308 Translocation renal cell carcinoma frontoparietal region Trismus-pseudocamptodactyly
85451 Transthyretin amyloid cardiopathy 3377
565 Trichopoliodystrophy syndrome
85447 Transthyretin amyloid neuropathy Trichorhinophalangeal syndrome 1692 Trisomy 1 mosaicism
77258
Transthyretin amyloid type 1 and 3 96069 Trisomy 1pter
85447
polyneuropathy Trichorhinophalangeal syndrome 261344 Trisomy 1q
502
Transthyretin-related familial type 2 250994 Trisomy 1q21.1
85451
amyloid cardiomyopathy →33364 Trichorrhexis nodosa syndrome 1723 Trisomy 2 mosaicism
141276 Transverse facial cleft 33364 Trichothiodystrophy 96070 Trisomy 2pter
Transverse limb deficiency- →33364 Trichothiodystrophy type B 313947 Trisomy 2q23.1
→221061
hemangioma syndrome →33364 Trichothiodystrophy type C 96094 Trisomy 2qter
180160 Transverse vaginal septum →33364 Trichothiodystrophy type D 100071 Trisomy 3 mosaicism
32960 TRAPS syndrome →33364 Trichothiodystrophy type E 96071 Trisomy 3pter
399175 Traumatic avascular necrosis →33364 Trichothiodystrophy type F 96095 Trisomy 3q26
399175 Traumatic AVN →33364 Trichothiodystrophy type G 251038 Trisomy 3q29
165955 Traumatic myiasis Trichothiodystrophy with congenital
→33364 96059 Trisomy 4 mosaicism
861 Treacher-Collins syndrome ichthyosis 1738 Trisomy 4p
→1215 Treft-Sanborn-Carey syndrome Trichothiodystrophy- 96072 Trisomy 4pter
103909 Trehalase deficiency →33364 neurocutaneous syndrome 96096 Trisomy 4qter
Tremor-ataxia-central syndrome
447896 96060 Trisomy 5 mosaicism
hypomyelination syndrome Trichothiodystrophy-osteosclerosis
→33364 1742 Trisomy 5p
Tremor-nystagmus-duodenal ulcer syndrome
3350 329802 Trisomy 5p13
syndrome Trichothiodystrophy-sun sensitivity
→33364 228415 Trisomy 5q35
64694 Trench fever syndrome
96097 Trisomy 5qter
1822 Trevor disease 1209 Tricuspid atresia
1745 Trisomy 6pter
99832 TRH resistance syndrome 95457 Tricuspid valve agenesis
2970 Triad syndrome 95458 Tricuspid valve prolapse
96098 Trisomy 6qter
1747 Trisomy 7 mosaicism
444463 TRIANGLE disease 221091 Trigeminal neuralgia
314034 Trisomy 7p22.1
ORPHA ORPHA ORPHA
96074 Trisomy 7pter 96109 Trisomy 22qter Tuberous sclerosis/polycystic kidney
88924
96121 Trisomy 7q11.23 Trisomy of the short arm of disease contiguous gene syndrome
1738
96061 Trisomy 8 mosaicism chromosome 4 2593 Tubular aggregate myopathy
264450 Trisomy 8p Trisomy of the short arm of Tubular duplication of the
1742 100048
251076 Trisomy 8p23.1 chromosome 5 esophagus
1752 Trisomy 8q Trisomy of the short arm of Tubular renal disease-
236 73224
228399 Trisomy 8q12 chromosome 9 cardiomyopathy syndrome
96100 Trisomy 8qter Trisomy of the short arm of 467166 Tubulinopathy-associated dysgyria
1715
99776 Trisomy 9 mosaicism chromosome 18 319325 Tubulocystic renal cell carcinoma
3375 Trisomy X Tubulointerstitial nephritis and
236 Trisomy 9p 91500
217377 Trisomy Xp11.22p11.23 uveitis syndrome
96101 Trisomy 9qter
261483 Trisomy Xq27.3-q28 2997 Tucker syndrome
261483 Trisomy Xq27.3q28 →2036 Tuffli-Laxova syndrome
171929 Trisomy 10p
1762 Trisomy Xq28 1063 Tufted angioma
276422 Trisomy 10q22.3q23.3
88629 Tritan colour blindness 3392 Tularemia
96102 Trisomy 10qter
300305 Trisomy 11p15.4
88629 Tritanopia 640 Tulip-bulb digger's palsy
49827 TRMA Tumor necrosis factor receptor 1
96103 Trisomy 11qter 32960
tRNA-LYS-related cardiomyopathy- associated periodic syndrome
1698 Trisomy 12 mosaicism 1349
hearing loss syndrome Tumor susceptibility linked to
1699 Trisomy 12p 289539
103918 Tropical calcific chronic pancreatitis germline BAP1 mutations
3378 Trisomy 13
75565 Tropical endomyocardial fibrosis 352540 Tumor-induced osteomalacia
96105 Trisomy 13qter
99654 Tropical pancreatic diabetes 879 Tungiasis
103918 Tropical pancreatitis 3225 Tungland-Bellman syndrome
261229 Trisomy 14q11.2
764 Tropical pyomyositis 99053 Tunnel subaortic stenosis
488280 Trisomy 14q32
289326 Tropical spastic paraparesis 211 Turban tumor syndrome
1705 Trisomy 14qter
101000 Troyer syndrome 99818 Turcot syndrome with polyposis
983 TRS 881 Turner syndrome
238446 Trisomy 15q11q13
313906 True congenital pancreatic cyst Turner syndrome due to structural X
295030 True congenital shoulder dislocation chromosome anomalies
1708 Trisomy 16 mosaicism 2614 Turner-Kieser syndrome
2512 True microcephaly
261204 Trisomy 16p11.2p12.2
180074 True unicornuate uterus 63440 Turricephaly
261243 Trisomy 16p13.11
3384 Truncus arteriosus 95431 Twin to twin transfusion syndrome
96078 Trisomy 16pter
228379 TS Twisted atrioventricular
352737 TS OCA type 1 connections
1711 Trisomy 17 mosaicism 2889 Twisted hair
3173 Tsao-Ellingson syndrome
261290 Trisomy 17p Tylosis-oesophageal carcinoma
66627 TSGCT 2198
1713 Trisomy 17p11.2 syndrome
91347 TSH-oma
477817 Trisomy 17p11.2-p12 477781 Type 1 condylar hyperplasia
91347 TSH-secreting pituitary adenoma
477817 Trisomy 17p11.2p12 Type 1 syndactyly-microcephaly-
289326 TSP 3255
217385 Trisomy 17p13.3 intellectual disability syndrome
3268 Tsukahara syndrome
139474 Trisomy 17q11.2 →79259 Type 1C glycogenosis
3387 Tsukahara-Kajii syndrome
261272 Trisomy 17q12 →79259 Type 1D glycogenosis
83317 Tsutsugamushi disease
217340 Trisomy 17q21.31 93554 Type II mixed cryoglobulinemia
83317 Tsutsugamushi fever
3379 Trisomy 17qter 99745 Typhoid
54057 TTP
3380 Trisomy 18 99745 Typhoid fever
85447 TTR amyloid neuropathy
1715 Trisomy 18p 99745 Typhoidal salmonellosis
TTR-related amyloid
1716 Trisomy 18qter 85451 90038 Typical hemolytic-uremic syndrome
cardiomyopathy
1717 Trisomy 19qter 90038 Typical HUS
85451 TTR-related cardiac amyloidosis
1724 Trisomy 20 mosaicism 171436 Typical nemaline myopathy
180242 Tubal cancer
261318 Trisomy 20p 158766 Typical urticaria pigmentosa
499004 Tubercular meningitis
96107 Trisomy 20qter 1895 Typus Edinburgensis
3389 Tuberculosis
870 Trisomy 21 Tyrosinase-negative oculocutaneous
499004 Tuberculous meningitis 79431
96068 Trisomy 22 mosaicism albinism
805 Tuberous sclerosis
1727 Trisomy 22q11.2 101150 Tyrosine hydroxylase deficiency
805 Tuberous sclerosis complex
ORPHA ORPHA ORPHA
Tyrosine hydroxylase-deficient UMOD-related autosomal dominant 93176 Unilateral congenital megacalycosis
101150 88950
dopa-responsive dystonia tubulointerstitial kidney disease 268947 Unilateral focal polymicrogyria
Tyrosinemia due to 4- 35120 UMPH1 deficiency Unilateral hemispheric
101071
69723 hydroxyphenylpyruvate dioxygenase 3138 UMS polymicrogyria
deficiency Unclassified intestinal 97363 Unilateral MCDK
104078
Tyrosinemia due to 4- pseudoobstruction 99802 Unilateral megalencephaly
69723 hydroxyphenylpyruvic acid oxidase Unclassified mixed Unilateral multicystic dysplastic
deficiency 97363
98825 myelodysplastic/myeloproliferatic kidney
69723 Tyrosinemia due to HPD deficiency syndrome Unilateral multicystic renal
28378 Tyrosinemia due to TAT deficiency 97363
Unclassified myelodysplastic dysplasia
98827
Tyrosinemia due to tyrosine syndrome 268943 Unilateral polymicrogyria
28378
aminotransferase deficiency Unclassified 295012 Unilateral syndactyly of digits 2-5
882 Tyrosinemia type 1 98825 myelodysplastic/myeloproliferative 1464 Univentricular heart
28378 Tyrosinemia type 2 disease Univentricular heart with single
69723 Tyrosinemia type 3 251328 Unclassified vasculitis 99069
atrio-ventricular valve
882 Tyrosinemia type I 1410 Uncombable hair syndrome 79146 Universal melanosis
28378 Tyrosinemia type II Uncombable hair-retinal pigmentary 620 Universal mesentery
69723 Tyrosinemia type III 1264 dystrophy-dental anomalies- 99104 Unroofed coronary sinus
75840 UCMD brachydactyly syndrome
91140 Unspecified JIA
90002 UCTD 103920 Undetermined colitis
Unspecified juvenile idiopathic
Undetermined early-onset epileptic 91140
609 Udd myopathy 442835 arthritis
UDP-galactose-4-epimerase encephalopathy
79238
99139 Unstable hemoglobin disease
deficiency 442835 Undetermined EOEE
308 Unverricht-Lundborg disease
178315 UES Undifferentiated carcinoma of
418951 251009 UPD(1)mat
205 UGT deficiency esophagus
251004 UPD(1)pat
79234 UGT deficiency type 1 Undifferentiated carcinoma of liver
424970 96179 UPD(2)mat
and IBT
79235 UGT deficiency type 2 96180 UPD(4)mat
Undifferentiated carcinoma of liver
3403 Uhl anomaly 424970 96190 UPD(5)pat
and intrahepatic biliary tract
2032 UIP 96181 UPD(6)mat
Undifferentiated carcinoma of
3404 Ulbright-Hodes syndrome 96191 UPD(6)pat
424080 pancreas with osteoclast-like giant
308 ULD cells 96182 UPD(7)mat
3406 Ulerythema ophryogenesis Undifferentiated carcinoma of 96192 UPD(7)pat
320 Ulick syndrome 423786
stomach 96183 UPD(9)mat
75840 Ullrich disease Undifferentiated carcinoma of the 231147 UPD(11)mat
213721
2497 Ulna hypoplasia corpus uteri 96193 UPD(11)pat
Ulna hypoplasia-intellectual Undifferentiated connective tissue 97678 UPD(13)mat
2249 90002
disability syndrome syndrome 99324 UPD(13)pat
Ulna metaphyseal dysplasia Undifferentiated embryonal 96184 UPD(14)mat
1837 178315
syndrome sarcoma of the liver 96334 UPD(14)pat
93320 Ulnar clubhand Undifferentiated esophageal
418951 98754 UPD(15)mat
93320 Ulnar hemimelia carcinoma 98795 UPD(15)pat
Ulnar hypoplasia-lobster-claw 423786 Undifferentiated gastric carcinoma 96185 UPD(16)mat
1122
deformity of feet syndrome Undifferentiated myeloproliferative
86830 96186 UPD(20)mat
Ulnar hypoplasia-split foot disease
1122 96194 UPD(20)pat
syndrome Undifferentiated pleomorphic
2023 96187 UPD(21)mat
93320 Ulnar longitudinal meromelia sarcoma
96195 UPD(21)pat
3138 Ulnar-mammary syndrome Undifferentiated sarcoma of the
178315 96188 UPD(22)mat
Ulnar/fibula ray defect- liver
52056 261519 UPD(X)mat
brachydactyly syndrome Unexplained long-lasting
251332 261524 UPD(X)pat
Umbilical cord ulceration-intestinal fever/inflammatory syndrome
3405 3408 Upington disease
atresia syndrome 83468 Unicameral bone cyst
UMOD-associated familial juvenile Unicornuate uterus with Upper limb defect-eye and ear
209886 180079 2489
hyperuricemic nephropathy rudimentary horn abnormalities syndrome
209886 UMOD-associated FJHN Unicornuate uterus without 295049 Upper limb hypertrophy
180074 2497 Upper limb mesomelic dysplasia
88950 UMOD-related ADTKD rudimentary horn
ORPHA ORPHA ORPHA
268740 Upper thoracic spina bifida aperta Vacuolar myopathy with 898 VCAN-related vitreoretinopathy
268770 Upper thoracic spina bifida cystica sarcoplasmic reticulum protein
88635 600 VCPDM
2023 UPS aggregates 289157 VDDI
93583 Upshaw-Schulman syndrome Vacuolating megalencephalic 93160 VDDR II
488 Urachal cyst 2478 leukoencephalopathy with 289157 VDDR-I
431347 Urachal diverticulum subcortical cysts 2460 VDEGS
65681 Vaginal atresia
431344 Urachal sinus 93160 VDRR II
180247 Vaginal carcinoma
530 Urbach-Wiethe disease Vein of Galen aneurysmal
206489 Vaginal germ cell cancer 1053
221145 Urban-Rifkin-Davis syndrome malformation
206489 Vaginal germ cell malignant tumor
3409 Urban-Rogers-Meyer syndrome Vein of Galen arteriovenous
180247 Vaginal malignant epithelial tumor 1053
1839 Urban-Schosser-Spohn syndrome malformations
158048 VAHS 3424 Velo-facial-skeletal syndrome
94059 Uremic pruritus
88639 Valine metabolic defect 567 Velocardiofacial syndrome
105 Urethral atresia
228123 Valley fever 29207 Venereal arthritis
Uridine 5'-monophosphate
35120 99054 Valvular pulmonary stenosis
hydrolase deficiency 319234 Venezuelan hemorrhagic fever
Uridine diphosphate galactose-4- Van Benthem-Driessen-Hanveld 357131 Venous cervical rib syndrome
79238 1548
epimerase deficiency syndrome 357131 Venous costoclavicular syndrome
Uridine monophosphate synthetase 2806 Van Bogaert disease 357131 Venous hyperabduction syndrome
30 2806 Van Bogaert encephalitis
deficiency Venous malformations with glomus
3416 Van Buchem disease 83454
210128 Urocanic aciduria cells
2704 Urofacial syndrome Van den Berghe-Dequecker 357131 Venous scalenus anticus syndrome
1122
98606 Urrets-Zavalia syndrome syndrome Venous thoracic outlet compression
3417 Van den Bosch syndrome 357131
79457 Urticaria pigmentosa syndrome
886 USH 2460 Van den Ende-Gupta syndrome 357131 Venous thoracic outlet syndrome
231169 USH1 216796 Van der Hoeve syndrome 357131 Venous TOS
231178 USH2 2478 Van der Knaap syndrome Ventilator-induced diaphragmatic
505395
231183 USH3 888 Van der Woude syndrome dysfunction
886 Usher syndrome 314679 Van Maldergem syndrome Ventricular extrasystoles with
231169 Usher syndrome type 1 Van Regemorter-Pierquin-Vamos 3201 syncopal episodes-perodactyly-
3419
231178 Usher syndrome type 2 syndrome Robin sequence syndrome
73 Vanishing bone disease 216694 Ventricular inversion
231183 Usher syndrome type 3
481665 USP18 deficiency
983 Vanishing testes syndrome Ventricular septal defect with aortic
99094
983 Vanishing testis syndrome insufficiency
2032 Usual interstitial pneumonia
729 Vaquez disease Ventriculoarterial and
213610 Uterine carcinosarcoma 216694
2754 Váradi syndrome atrioventricular discordance
Uterine cervical aplasia and
180145 2754 Váradi-Papp syndrome Ventriculoarterial discordance with
agenesis 860
Variably protease-sensitive atrioventricular concordance
180139 Uterine hypoplasia 454742
prionopathy Ventriculomegaly-cystic kidney
Uteroplacental vascular 443988
439167 314652 Variant ABeta2M amyloidosis disease
insufficiency
79253 Variant phenylketonuria 508488 Verheij syndrome
180118 Uterus arcuatus
79253 Variant PKU 2899 Verloes-Bourguignon syndrome
180118 Uterus cordiformis
79473 Variegate porphyria 2496 Verloes-David syndrome
180129 Uterus subseptus
404553 Vasculitis due to ADA2 deficiency 50817 Verloes-Deprez syndrome
178338 UV-sensitive syndrome
404553 Vasculitis due to DADA2 2983 Verloes-Gillerot-Fryns syndrome
Uveal coloboma-cleft lip and palate-
1473 Verloes-Van Maldergem-de
intellectual disability Vasoproliferative tumor of the 2551
353356 Marneffe syndrome
39044 Uveal melanoma ocular fundus
Vasoproliferative tumor of the Verloove Vanhorick-Brubakk
3437 Uveomenigitic syndrome 353356 3429
retina syndrome
99771 Uvular cleft
→261483 Vasquez-Hurst-Sotos syndrome 70476 Vernal keratoconjunctivitis
370109 v-AT
85128 Västerbotten dystrophy 97282 Verner-Morrison syndrome
887 VACTERL association 464318 Verrucous hemangioma
887 VATER association
3412 VACTERL with hydrocephalus 79467 Verrucous nevus
887 VACTERL/VATER association Vater-like syndrome with
52047 pulmonary hypertension, abnormal Very long chain acyl-CoA
88635 Vacuolar aggregate myopathy 26793
ears and growth deficiency dehydrogenase deficiency
228379 VATS 431347 Vesicourachal diverticulum
ORPHA ORPHA ORPHA
252175 Vestibular schwannoma Vitamin B12-unresponsive 353356 VPTR
289916
892 VHL methylmalonic aciduria type mut0 99094 VSD with aortic insufficiency
493348 Vibratory angioedema 289157 Vitamin D dependent rickets type I 357131 VTOS
493342 Vibratory urticaria 289157 Vitamin D-dependency type I 494454 Vulvar adenocarcinoma
1493 Vici syndrome 93160 Vitamin D-dependent rickets type II 494451 Vulvar basal cell carcinoma
505395 VIDD 93160 Vitamin D-resistant rickets type II 137583 Vulvar intraepithelial neoplasia
3433 Viljoen-Kallis-Voges syndrome Vitamin K antagonist 137583 Vulvar intraepithelial tumor
1914
3434 Viljoen-Smart syndrome embryofetopathy 494448 Vulvar squamous cell carcinoma
137583 VIN 1914 Vitamin K antagonist embryopathy 83453 Vulvovaginal gingival syndrome
97282 VIP-secreting tumor Vitelliform macular dystrophy type 206492 Vulvovaginal rhabdomyosarcoma
1243
97282 VIPoma 2 53696 Vuopala disease
206991 Viral myositis 179 Vitiliginous choroiditis 888 VWS
180176 Virginal breast hypertrophy Vitreoretinal degeneration, Wagner 2804 W syndrome
898
99916 Virilizing ovarian tumor type 2180 Waaler-Aarskog syndrome
26793 VLCAD deficiency
Virus-associated hemophagocytic Waardenburg anophthalmia
158048 26793 VLCADD 1106
syndrome syndrome
386 VMC
Virus-associated trichodysplasia 3440 Waardenburg syndrome
228379 443988 VMCKD
spinulosa 894 Waardenburg syndrome type 1
280068 Visceral calciphylaxis 2451 VMCM 895 Waardenburg syndrome type 2
Visceral myopathy-familial external 83454 VMGLOM Waardenburg syndrome type 2 with
1876 352740
ophthalmoplegia syndrome Vocal cord and pharyngeal distal ocular albinism
600
Visceral neuropathy-brain myopathy 896 Waardenburg syndrome type 3
73246 anomalies-facial dysmorphism- 79124 VODI syndrome 897 Waardenburg syndrome type 4
developmental delay syndrome 3437 Vogt-Koyanagi-Harada disease 894 Waardenburg syndrome type I
Visible and exudative idiopathic 494 Vohwinkel syndrome 895 Waardenburg syndrome type II
353344
juxtafoveolar retinal telangiectasis Vohwinkel syndrome with 896 Waardenburg syndrome type III
79395
420556 Visual snow syndrome ichthyosis Waardenburg syndrome with limb
3006 Vitamin B6-dependent seizures 2427 Volcke-Soekarman syndrome 896
anomalies
Vitamin B12-responsive 35737 Volubilis syndrome Waardenburg-Hirschsprung
28 897
methylmalonic acidemia 83600 Von Economo encephalitis syndrome
Vitamin B12-responsive 364 Von Gierke disease Waardenburg-Jonker corneal
79310 98960
methylmalonic acidemia type cblA 892 Von Hippel-Lindau disease dystrophy
Vitamin B12-responsive 892 Von Hippel-Lindau syndrome 897 Waardenburg-Shah syndrome
79311
methylmalonic acidemia type cblB Von Hippel-Lindau-dependent 280558 WABS
Vitamin B12-responsive 238557
polycythemia WAC-related facial dysmorphism-
308442 methylmalonic acidemia, type 386 Von Meyenburg complexes disease 466943 developmental delay-behavioral
cblDv2 636 Von Recklinghausen disease abnormalities syndrome
Vitamin B12-responsive Von Recklinghausen disease due to 247709 Wagenmann-Froboese syndrome
28
methylmalonic aciduria 363700
NF1 mutation or intragenic deletion 898 Wagner disease
Vitamin B12-responsive 3439 Von Voss-Cherstvoy syndrome
79310 898 Wagner syndrome
methylmalonic aciduria type cblA
903 Von Willebrand disease 893 WAGR syndrome
Vitamin B12-responsive
79311 166078 Von Willebrand disease type 1 90033 wAHA
methylmalonic aciduria, type cblB
166081 Von Willebrand disease type 2 357332 Wahab syndrome
Vitamin B12-responsive
308442 166084 Von Willebrand disease type 2A 90033 wAIHA
methylmalonic aciduria, type cblDv2
166087 Von Willebrand disease type 2B 2379 Waisman syndrome
Vitamin B12-unresponsive
27 166090 Von Willebrand disease type 2M 33226 Waldenström macroglobulinemia
methylmalonic acidemia
Vitamin B12-unresponsive 166093 Von Willebrand disease type 2N 90362 Waldmann disease
79312 166096
methylmalonic acidemia type mut- Von Willebrand disease type 3 1068 Walker-Dyson syndrome
Vitamin B12-unresponsive VPS11-related autosomal recessive 899 Walker-Warburg syndrome
289916 466934
methylmalonic acidemia type mut0 hypomyelinating leukodystrophy 1453 Wallis-Zieff-Goldblatt syndrome
Vitamin B12-unresponsive VPS11-related autosomal recessive 2510 WARBM
27 466934 hypomyelinating
methylmalonic aciduria 2510 Warburg micro syndrome
Vitamin B12-unresponsive leukoencephalopathy 3214 Warburg-Thomsen syndrome
79312 369852
methylmalonic aciduria type mut- VPS45 deficiency
ORPHA ORPHA ORPHA
Warburton-Anyane-Yeboa 652 Wermer syndrome 3460 Winchester syndrome
1052
syndrome 3332 Werner mesomelic syndrome 169095 Winged helix deficiency
1914 Warfarin embryofetopathy 902 Werner syndrome 94087 Winkelmann cytophagic panniculitis
1914 Warfarin embryopathy Werner-like syndrome due to 2515 Winship-Viljoen-Leary syndrome
1979
96061 Warkany syndrome combined growth factor deficiency 906 Wiskott-Aldrich syndrome
90033 Warm AIHA 3451 West syndrome 829 Wissler-Fanconi syndrome
Warman-Mulliken-Hayward 83476 West-Nile encephalitis 2228 Witkop syndrome
1541
syndrome 83476 West-Nile fever 101068 Witschel dystrophy
280558 Warsaw breakage syndrome Westerhof-Beemer-Cormane →280 Wittwer syndrome
2435
Warts-hypogammaglobulinemia- syndrome 3237 WL syndrome
51636
infections-myelokathexis syndrome 83593 Western equine encephalitis 3344 WNS
Warts-infections-leukopenia- 83593 Western equine encephalomyelitis 247768 WNT4 deficiency
51636
myelokatexis syndrome 681 Westphall disease 1667 Wolcott-Rallison syndrome
69745 Warty dyskeratoma 952 Weyers acrodental dysostosis 280 Wolf-Hirschhorn syndrome
906 WAS 952 Weyers acrofacial dysostosis 3080 Wolff-Zimmermann syndrome
1046 Water-West syndrome →2750 Whelan syndrome 3463 Wolfram syndrome
100067 Waterhouse-Friderichsen syndrome 51636 WHIM syndrome 411590 Wolfram-like syndrome
Watery diarrhea-hypokalemia- 3452 Whipple disease 75233 Wolman disease
97282
achlorhydria syndrome 2053 Whistling face syndrome 3464 Woodhouse-Sakati syndrome
→636 Watson syndrome 228290 White fibrous papulosis of the neck 2571 Woods-Black-Norbury syndrome
33577 WCD 2475 White forelock with malformations Woods-Crouchman-Huson
284395 WDFA →3255
White matter hypoplasia-corpus syndrome
97282 WDHA syndrome 3207 callosum agenesis-intellectual 170 Woolly hair
99971 WDLS disability syndrome 79414 Woolly hair nevus
603 WDM 370131 White platelet syndrome Woolly hair-hypotrichosis-everted
2907 Weary syndrome 171723 1409
White sponge nevus lower lip-outstanding ears syndrome
3447 Weaver syndrome 171723 White sponge nevus of Cannon Woolly hair-palmoplantar
→3447 Weaver-like syndrome 420686
1489 Whooping cough hyperkeratosis syndrome
3448 Weaver-Williams syndrome 2779 Whyte-Murphy syndrome Woolly hair-palmoplantar
33577 Weber-Christian disease 3454 Wieacker-Wolff syndrome 65282 hyperkeratosis-dilated
33577 Weber-Christian panniculitis 116 Wiedemann-Beckwith syndrome cardiomyopathy syndrome
1521 Webster-Deming syndrome Wiedemann-Rautenstrauch Woolly hair-palmoplantar
3455 420686
228254 Weidman juvenile elastoma syndrome keratoderma syndrome
3449 Weill-Marchesani syndrome 319182 Wiedemann-Steiner syndrome Woolly hair-palmoplantar
3344 Weismann-Netter syndrome Wild type ABeta2-microglobulinic 65282 keratoderma-dilated
85446 cardiomyopathy syndrome
3344 Weismann-Netter-Stuhl syndrome amyloidosis
Weissenbacher- Zweymuller 85446 Wild type ABeta2M amyloidosis 170 Wooly hair
3450 79414
syndrome 330001 Wild type ATTR amyloidosis Wooly hair nevus
Well-differentiated fetal 330001 Wild type ATTR-related amyloidosis Wooly hair-hypotrichosis-everted
284395 1409
adenocarcinoma of the lung 3456 Wildervanck syndrome lower lip-outstanding ears syndrome
99971 Well-differentiated liposarcoma 739 Willi-Prader syndrome Wooly hair-palmoplantar
65282 hyperkeratosis-dilated
Well-differentiated neuroendocrine 904 Williams syndrome
213736 cardiomyopathy syndrome
neoplasm of the endometrium 904 Williams-Beuren syndrome
Well-differentiated neuroendocrine Wooly hair-palmoplantar
213736 411501 Williams-Campbell syndrome
tumor of the corpus uteri 65282 keratoderma-dilated
51636 WILM
Well-differentiated neuroendocrine cardiomyopathy syndrome
213736 654 Wilms tumor
tumor of the endometrium Wormian bone-multiple fractures-
Wilms tumor-aniridia-genitourinary 166277 dentinogenesis imperfecta-skeletal
Well-differentiated thymic 893 anomalies-intellectual disability
263331 dysplasia
neuroendocrine carcinoma syndrome 3465 Worster-Drought syndrome
Well-differentiated thyroid Wilms tumor-disorder of sex
146 220 2790 Worth syndrome
carcinoma development syndrome
1373 Wellesley-Carman-French syndrome 178475 Wound botulism
220 Wilms tumor-DSD syndrome
901 165955 Wound myiasis
Wells syndrome 905 Wilson disease
2815 Wells-Jankovic syndrome 2834 Wrinkled skin syndrome
3459 Wilson-Turner syndrome
83330 Werdnig-Hoffmann disease 2834 Wrinkly skin syndrome
ORPHA ORPHA ORPHA
1667 WRS X-linked cerebral-cerebellar- X-linked distal spinal muscular
163961 139557
902 WS coloboma syndrome atrophy type 3
894 WS1 X-linked Charcot-Marie-Tooth X-linked dominant
101075 35173
895 WS2 disease type 1 chondrodysplasia punctata
896 WS3 X-linked Charcot-Marie-Tooth X-linked dominant
101076
897 WS4 disease type 2 163966 chondrodysplasia, Chassaing-
163746 WS4 plus X-linked Charcot-Marie-Tooth Lacombe type
101077
2834 WSS disease type 3 X-linked dominant
X-linked Charcot-Marie-Tooth 163966 chondrodysplasia-hydrocephaly-
3466 WT limb-blood syndrome 101078
disease type 4 microphthalmia syndrome
3459 WTS
X-linked Charcot-Marie-Tooth X-linked dominant erythropoietic
3411 Wunderlich syndrome 99014 443197
disease type 5 protoporphyria
899 WWS
X-linked Charcot-Marie-Tooth X-linked dominant intellectual
53719 Wyburn-Mason syndrome 352675 93951
disease type 6 disability-epilepsy syndrome
96201 X small rings 443197 X-linked dominant protoporphyria
X-linked chondrodysplasia punctata
43 X-ALD 35173
type 2 139557 X-linked dSMA3
300373 X-LAG (X-linked acrogigantism) X-linked cleft palate and X-linked dyserythropoietic anemia
324601
X-LAG (X-linked acrogigantism) due ankyloglossia 363727 with abnormal platelets and
448348
to a point mutation X-linked colobomatous neutropenia
X-LAG (X-linked acrogigantism) due microphthalmia-microcephaly- X-linked dysplasia gigantism
448372 431140 373
to dup(X)q(26) intellectual disability-short stature syndrome
2182 X-linked acqueductal stenosis syndrome 53351 X-linked dystonia-parkinsonism
X-linked acrogigantism due to a X-linked colobomatous 75497 X-linked Ehlers-Danlos syndrome
448348
point mutation microphthalmia-microcephaly-short X-linked Emery-Dreifuss muscular
431140 98863
X-linked acrogigantism due to Xq26 stature-psychomotor retardation dystrophy
448372
microduplication syndrome X-linked endothelial corneal
43 X-linked complicated corpus 293621
X-linked adrenoleukodystrophy dystrophy
1497
47 X-linked agammaglobulinemia callosum dysgenesis X-linked epilepsy-learning
43 X-linked ALD X-linked complicated spastic 85294 disabilities-behavior disorders
306617
88917 X-linked Alport syndrome paraplegia type 1 syndrome
85278 X-linked Angelman-like syndrome X-linked cone dysfunction syndrome X-linked erythropoietic
90001 443197
X-linked anhidrotic ectodermal with myopia protoporphyria
181 X-linked congenital adrenal
dysplasia 95702 X-linked external auditory canal
85297 X-linked ataxia-deafness syndrome hypoplasia 500188 atresia-dilated internal auditory
85292 X-linked ataxia-dementia syndrome X-linked congenital canal-facial dysmorphism syndrome
67044 dyserythropoietic anemia with X-linked facial dysmorphism-short
X-linked auditory neuropathy with
139583 peripheral sensory neuropathy type thrombocytopenia stature-choanal atresia-intellectual
480880
1 X-linked congenital generalized disability syndrome limited to
79495
1131 X-linked branchial arch syndrome hypertrichosis females
565 X-linked copper deficiency X-linked female restricted facial
481 X-linked BSMA
481 X-linked bulbospinal amyotrophy
1661 X-linked corneal dermoid 480880 dysmorphism-short stature-choanal
X-linked creatine transporter atresia-intellectual disability
X-linked bulbospinal muscular 52503
481 deficiency →994 X-linked fetal akinesia syndrome
atrophy
391327 X-linked calvarial hyperostosis
85453 X-linked cutaneous amyloidosis X-linked hereditary sensory and
198 X-linked cutis laxa 139583 autonomic neuropathy with
X-linked cardioskeletal myopathy
111 383 X-linked deafness type 2 deafness
and neutropenia
X-linked deafness-intellectual 139583 X-linked HSAN with deafness
X-linked central congenital 85321
disability syndrome syndrome 2182 X-linked HSAS
329235 hypothyroidism with late-onset
macroorchidism 139557 X-linked dHMN3 2182 X-linked hydrocephalus
X-linked central congenital X-linked diffuse leiomyomatosis- X-linked hydrocephalus with
1018 2182
329235 hypothyroidism with late-onset Alport syndrome stenosis of aqueduct of Sylvius
testicular enlargement X-linked distal arthrogryposis X-linked hydrocephalus-cerebellar
1145
596 multiplex congenita 1397 agenesis-intellectual disability
X-linked centronuclear myopathy
X-linked cerebral X-linked distal hereditary motor syndrome
139396 139557
adrenoleukodystrophy neuropathy type 3 101088 X-linked hyper-IgM syndrome
ORPHA ORPHA ORPHA
X-linked hypohidrotic ectodermal X-linked intellectual disability, X-linked intellectual disability-
181 93945
dysplasia Porteous type 85330 corpus callosum agenesis-spastic
89936 X-linked hypophosphatemia X-linked intellectual disability, quadriparesis syndrome
→776
89936 X-linked hypophosphatemic rickets Raymond type X-linked intellectual disability-
461 X-linked ichthyosis X-linked intellectual disability, craniofacial dysmorphism-epilepsy-
3242 85278
231692 X-linked IGHD Renpenning type ophthalmoplegia-cerebellar atrophy
X-linked immunodeficiency with X-linked intellectual disability, syndrome
85285
317476 magnesium defect, Epstein-Barr Schimke type X-linked intellectual disability-
163979
virus infection and neoplasia X-linked intellectual disability, craniofacioskeletal syndrome
85323
X-linked immunoneurologic Seemanova type X-linked intellectual disability-
2571 85280 cubitus valgus-dysmorphism
disorder X-linked intellectual disability,
85286 syndrome
16 X-linked incomplete achromatopsia Shashi type
X-linked intellectual disability due X-linked intellectual disability, X-linked intellectual disability-
364028 85324 1568 Dandy-Walker malformation-basal
to GRIA3 mutations Shrimpton type
X-linked intellectual disability, ganglia disease-seizures syndrome
X-linked intellectual disability due 85287
3242 Siderius type X-linked intellectual disability-
to PQBP1 mutations
X-linked intellectual disability, 2958 dysmorphism-cerebral atrophy
X-linked intellectual disability with 3063
67045 Snyder type syndrome
isolated growth hormone deficiency
X-linked intellectual disability, X-linked intellectual disability-
X-linked intellectual disability with 85278 94083
776 South African type dystonia-dysarthria syndrome
marfanoid habitus
X-linked intellectual disability, X-linked intellectual disability-
X-linked intellectual disability, Abidi 85325
85273 Stevenson type epilepsy-progressive joint
type 85319
X-linked intellectual disability, contractures-dysmorphism
X-linked intellectual disability, 85288 syndrome
85274 Stocco Dos Santos type
Ahmad type
X-linked intellectual disability, Stoll X-linked intellectual disability-
X-linked intellectual disability, 85326 85282 epileptic seizures-hypogenitalism-
85276 type
Armfield type microcephaly-obesity syndrome
X-linked intellectual disability, Atkin 93950 X-linked intellectual disability, X-linked intellectual disability-global
1193 Sutherland-Haan type
type development delay-facial
X-linked intellectual disability, X-linked intellectual disability, 480907
3056 85328 dysmorphism-sacral caudal remnant
Brooks type Turner type
syndrome
X-linked intellectual disability, X-linked intellectual disability, Van
85293 163976 X-linked intellectual disability-
Cabezas type Esch type 3459
gynecomastia-obesity syndrome
X-linked intellectual disability, X-linked intellectual disability,
85277 →85293 X-linked intellectual disability-
Cantagrel type Vitale type
hypogammaglobulinemia-
X-linked intellectual disability, X-linked intellectual disability, 85317
163971 85290 progressive neurological
Cilliers type Wilson type deterioration syndrome
X-linked intellectual disability, X-linked intellectual disability, X-linked intellectual disability-
→93950 →280
Fichera type Wittwer type 3055 hypogonadism-ichthyosis-obesity-
X-linked intellectual disability, X-linked intellectual disability, short stature syndrome
93947 →59
Golabi-Ito-Hall type Zorick type X-linked intellectual disability-
X-linked intellectual disability- 59
X-linked intellectual disability, Gu 85327 hypotonia syndrome
→457240 acromegaly-hyperactivity syndrome
type X-linked intellectual disability-
X-linked intellectual disability, X-linked intellectual disability- 85329 hypotonia-facial dysmorphism-
93952 85338
Hedera type ataxia-apraxia syndrome aggressive behavior syndrome
X-linked intellectual disability, Kroes X-linked intellectual disability- X-linked intellectual disability-
163961 324410 cardiomegaly-congestive heart
type 457260 hypotonia-movement disorder
X-linked intellectual disability, Lubs failure syndrome syndrome
→1762 X-linked intellectual disability-
type 137831 X-linked intellectual disability-
X-linked intellectual disability, cerebellar hypoplasia syndrome →1762 hypotonia-recurrent Infections
85283 X-linked intellectual disability-
Miles-Carpenter type syndrome
X-linked intellectual disability, Najm 459070 cerebellar hypoplasia-spondylo- X-linked intellectual disability-limb
163937 epiphyseal dysplasia syndrome
type 423479 spasticity-retinal dystrophy-diabetes
X-linked intellectual disability, X-linked intellectual disability- insipidus syndrome
163956 85295 choreoathetosis-abnormal behavior
Nascimento type X-linked intellectual disability-
X-linked intellectual disability, Pai syndrome 85320 macrocephaly-macroorchidism
85322
type syndrome
ORPHA ORPHA ORPHA
X-linked intellectual disability- X-linked mandibulofacial dysostosis X-linked non-syndromic
1131 90625
251383 microcephaly-cortical malformation- with limb anomalies sensorineural deafness type DFN
thin habitus syndrome 59306 X-linked McLeod syndrome X-linked non-syndromic
90625
X-linked intellectual disability- X-linked mendelian susceptibility to sensorineural hearing loss type DFN
319605
163937 microcephaly-pontocerebellar mycobacterial diseases 293707 X-linked Ohdo syndrome
hypoplasia syndrome X-linked mendelian susceptibility to 306597 X-linked Opitz BBB/G syndrome
X-linked intellectual disability- 319623 mycobacterial diseases due to CYBB 306597 X-linked Opitz G/BBB syndrome
163971 microcephaly-testicular failure deficiency 306597 X-linked Opitz syndrome
syndrome X-linked mendelian susceptibility to 391330 X-linked osteoporosis with fractures
X-linked intellectual disability- 319612 mycobacterial diseases due to IKBKG X-linked parkinsonism-spasticity
→3057 monoamine oxidase A metabolism deficiency 363654
syndrome
anomaly syndrome X-linked mendelian susceptibility to X-linked progressive cerebellar
X-linked intellectual disability-nail 319612 mycobacterial diseases due to 1175
163956 ataxia
dystrophy-seizures syndrome NEMO deficiency X-linked recessive hypercalciuric
X-linked intellectual disability- X-linked microcephaly-growth 1652
2898 hypophosphatemic rickets
plagiocephaly syndrome 435938 retardation-prognathism- X-linked recessive intellectual
X-linked intellectual disability- cryptorchidism syndrome 83648 disability-macrocephaly-ciliary
3077
psychosis-macroorchidism syndrome X-linked mixed conductive and dysfunction syndrome
383
X-linked intellectual disability- neurosensory deafness 1652 X-linked recessive nephrolithiasis
85332
retinitis pigmentosa syndrome X-linked mixed conductive and
383 54 X-linked recessive ocular albinism
X-linked intellectual disability- neurosensory hearing loss
3052 X-linked reticulate pigmentary
seizures-psoriasis syndrome X-linked mixed conductive and 85453
383 disorder
X-linked intellectual disability-short sensorineural deafness
457240 1852 X-linked retinal dysplasia
stature-overweight syndrome X-linked mixed conductive and
383 792 X-linked retinoschisis
X-linked intellectual disability- sensorineural hearing loss
→702 spastic paraplegia with iron deposits X-linked scapuloperoneal muscular
X-linked mixed deafness with 431272
383 dystrophy
syndrome perilymphatic gusher
X-linked intellectual disability-
431272 X-linked scapuloperoneal syndrome
→59 X-linked Moesin-associated
504530 X-linked severe congenital
spastic quadriparesis syndrome immunodeficiency 86788
X-linked isolated growth hormone neutropenia
231692
319605 X-linked MSMD
deficiency 75563 X-linked sideroblastic anemia
X-linked MSMD due to CYBB
319623 X-linked sideroblastic anemia and
X-linked isolated neurosensory deficiency 2802
90625 spinocerebellar ataxia
deafness type DFN X-linked MSMD due to IKBKG
319612 X-linked sideroblastic anemia with
X-linked isolated neurosensory deficiency 2802
90625 ataxia
hearing loss type DFN X-linked MSMD due to NEMO
319612 X-linked skeletal dysplasia-
X-linked isolated sensorineural deficiency 1436
90625 intellectual disability syndrome
deafness type DFN X-linked myopathy with excessive
25980 99015 X-linked spastic paraplegia type 2
X-linked isolated sensorineural autophagy
90625 100997
hearing loss type DFN X-linked myopathy with postural X-linked spastic paraplegia type 16
178461 171607 X-linked spastic paraplegia type 34
792 X-linked juvenile retinoschisis muscle atrophy
X-linked keloid scarring-reduced 596 X-linked myotubular myopathy X-linked spasticity-intellectual
3175
482606 joint mobility-increased optic cup- X-linked myotubular myopathy- disability-epilepsy syndrome
to-disc ratio syndrome 456328 X-linked spinal and bulbar muscular
abnormal genitalia syndrome 481
X-linked lethal multiple pterygium X-linked neurodegenerative atrophy
79447 85334
syndrome syndrome, Bertini type X-linked spinal muscular atrophy
1145
2148 X-linked lissencephaly type 1 X-linked neurodegenerative type 2
85336 X-linked spinal muscular atrophy
X-linked lissencephaly with syndrome, Hamel type 404521
452 with respiratory distress
abnormal genitalia X-linked non progressive cerebellar
314978 X-linked spinocerebellar ataxia type
X-linked lissencephaly with ataxia 85297
452 3
ambiguous genitalia X-linked non-syndromic intellectual
777 X-linked spinocerebellar ataxia type
X-linked lissencephaly-corpus disability 85292
452 callosum agenesis-genital anomalies X-linked non-syndromic 4
syndrome 90625 X-linked spinocerebellar ataxia type
neurosensory deafness type DFN 314978
X-linked lymphoproliferative X-linked non-syndromic 5
2442 90625
disease neurosensory hearing loss type DFN 431272 X-linked SPMD
1131 X-linked mandibulofacial dysostosis
ORPHA ORPHA ORPHA
X-linked spondyloepimetaphyseal 2802 XLSA-A 252006 Yolk sac tumor of CNS
93349
dysplasia 231393 XLTT 2828 YOPD
X-linked spondylometaphyseal 25980 XMEA 2255 Yorifuji-Okuno syndrome
168544
dysplasia 317476 XMEN 3240 Yoshimura-Takeshita syndrome
383 X-linked stapes gusher syndrome 178461 XMPMA 488642 You-Hoover-Fong syndrome
X-linked thrombocytopenia with 93601 XO deficiency 314485 Young adult-onset dHMN
852
normal platelets 93601 XOR deficiency Young adult-onset distal hereditary
3467 Xanthic urolithiasis 314485
910 XP motor neuropathy
Xanthine dehydrogenase and 220295 XP/CS complex 3471 Young syndrome
93602 xanthine aldehyde oxidase dual 3055
Xp21 contiguous gene deletion Young-Hughes syndrome
deficiency 261476
syndrome 2828 Young-onset Parkinson disease
93601 Xanthine dehydrogenase deficiency 261476 Xp21 microdeletion syndrome 477817 Yuan-Harel-Lupski syndrome
93601 Xanthine oxidase deficiency 284180 Xp22.13p22.2 duplication syndrome 3472 Yunis-Varon syndrome
93601 Xanthine oxidoreductase deficiency 1643 Xp22.3 microdeletion syndrome 506358 YY1 haploinsufficiency syndrome
3467 Xanthine stone disease 363654 XPDS 319213 Zambian hemorrhagic fever
93601 Xanthinuria type I 90342 XPV 98912 ZASP-related myofibrillar myopathy
93602 Xanthinuria type II 314389 Xq12-q13.3 duplication syndrome 97240 Zebra body myopathy
158003 Xanthoma disseminatum 1018 Xq22.3 microdeletion syndrome 217017 Zechi-Ceide syndrome
79433 Xanthous oculocutaneous albinism 521258 Xq25 microduplication syndrome 912 Zellweger syndrome
79155 Xanthurenic aciduria 521258 Xq25 microtriplication Zellweger-like contiguous gene
67044 XDAT 369942
Xq27.3-q28 microduplication deletion syndrome
93602 XDH and AOX dual deficiency 261483
syndrome Zellweger-like syndrome without
93601 XDH deficiency 50812
261483 Xq27.3q28 duplication syndrome peroxisomal anomalies
53351 XDP Xq28 contiguous gene deletion Zeta-associated-protein 70
456328 911
293621 XECD syndrome deficiency
910 Xeroderma pigmentosum 243 XX female gonadal dysgenesis 448237 Zika virus disease
90342 Xeroderma pigmentosum variant XX gonodal dysgenesis-deafness 448237 Zika virus infection
2855
Xeroderma pigmentosum with syndrome 3301 Zimmer phocomelia
→910
neurologic manifestation 393 XX, male syndrome 3473 Zimmermann-Laband syndrome
Xeroderma pigmentosum-Cockayne 243 XX-GD Zinc-responsive necrolytic acral
220295 439196
syndrome complex 3375 XXX syndrome erythema
75496 XGPT deficiency 983 XY gonadal agenesis syndrome 1775 Zinsser-Engman-Cole syndrome
181 XHED 168558 3253 Zlotogora-Ogur syndrome
XY sex reversal-adrenal failure
101088 XHIGM XY type gonadal dysgenesis- Zlotogora-Zilberman-Tenenbaum
1770 3253
412069 Xia-Gibbs syndrome associated anomalies syndrome syndrome
3469 XK aprosencephaly syndrome 2843 Xylitol dehydrogenase deficiency 913 Zollinger-Ellison syndrome
3469 XK syndrome Xylosylprotein 4-beta- 2835 Zori-Stalker-Williams syndrome
75496
3469 XK-aprosencephaly galactosyltransferase deficiency 912 ZS
XLAG (X-linked lissencephaly with 370930 XYLT1-CDG 3474 Zunich-Kaye syndrome
452
abnormal genitalia) syndrome 8 XYY syndrome 295187 Zygodactyly type 1
596 XLCNM 8 Y disomy 295189 Zygodactyly type 2
443197 XLDPP 2616 Yakut short stature syndrome 295191 Zygodactyly type 3
264580 XLG 99829 Yellow fever 295193 Zygodactyly type 4
89936 XLH 99829 Yellow Jack 295193 Zygodactyly, Castilla type
461 XLI 662 Yellow nail syndrome 295189 Zygodactyly, Lueken type
596 XLMTM 79434 Yellow oculocutaneous albinism 295191 Zygodactyly, Montagu type
54 XLOA Yemenite deaf-blind 295187 Zygodactyly, Weidenreich type
3214
306597 XLOS hypopigmentation syndrome 73263 Zygomycosis
2442 XLP 707 Yersiniosis
443197 XLP 99829 YF
85453 XLPDR 662 YNS
443197 XLPP 876 Yolk sac tumor
792 XLRS Yolk sac tumor of central nervous
252006
75563 XLSA system
ANNEX
→ Use these ORPHA number instead of the deprecated entities

List of diseases to be used instead
ORPHA Deprecated
of deprecated entities number
Disease to be used
ORPHA
number
Deprecated entities
→ Use these ORPHA number instead of the deprecated entities elliptocytosis

Homozygous hereditary
288 Hereditary elliptocytosis 98865
elliptocytosis
ORPHA Deprecated
Disease to be used Deprecated entities Bifunctional enzyme
number ORPHA 300 2981 Pseudo-Zellweger syndrome
number deficiency
X-linked intellectual Bifunctional enzyme
Allan-Herndon-Dudley 300 2981 Thiolase deficiency
59 163982 disability-spastic deficiency
syndrome Shoulder and thorax
quadriparesis syndrome
Allan-Herndon-Dudley X-linked intellectual 392 Holt-Oram syndrome 1940 deformity-congenital heart
59 85337 disease syndrome
syndrome disability, Zorick type
Bazex-Dupré-Christol Berardinelli-Seip Systemic cystic angiomatosis-
113 79458 Oley syndrome 528 1060
syndrome congenital lipodystrophy Seip syndrome
Bazex-Dupré-Christol Congenital hypotrichosis- Berardinelli-Seip
113 79458 528 1060 Brunzell syndrome
syndrome milia syndrome congenital lipodystrophy
Colobomatous- Berardinelli-Seip Generalized congenital
528 228429
microphthalmia-heart congenital lipodystrophy lipodystrophy with myopathy
138 CHARGE syndrome 1474 Berardinelli-Seip
disease-hearing loss 528 228429 GCL4
syndrome congenital lipodystrophy
Hittner-Hirsch-Kreh Berardinelli-Seip Generalized congenital
138 CHARGE syndrome 1474 528 228429
syndrome congenital lipodystrophy lipodystrophy type 4
Non-polyposis Turcot 636 Neurofibromatosis type 1 3444 Watson syndrome
144 Lynch syndrome 99817
syndrome Pulmonic stenosis with 'café-
636 Neurofibromatosis type 1 3444
Metaphyseal dysplasia au-lait' spots
175 Cartilage-hair hypoplasia 1838
without hypotrichosis Multiple non-ossifying
636 Neurofibromatosis type 1 2029
Cartilage-hair hypoplasia-like- fibromatosis
175 Cartilage-hair hypoplasia 1838 skeletal dysplasia without 636 Neurofibromatosis type 1 2029 Jaffe-Campanacci syndrome
hypotrichosis syndrome Niemann-Pick disease type
646 79289 Niemann-Pick disease type D
Thanatophoric dysplasia, C
175 Cartilage-hair hypoplasia 93275
Glasgow variant Niemann-Pick disease type Niemann-Pick disease, Nova
646 79289
Mirhosseini-Holmes-Walton C Scotia type
193 Cohen syndrome 3084
syndrome Congenital hypothalamic
672 Pallister-Hall syndrome 2113
Pigmentary retinopathy- hamartoma syndrome
193 Cohen syndrome 3084 intellectual disability 672 Pallister-Hall syndrome 2113 CHHS
syndrome Hyperkalemic periodic Normokalemic periodic
Partington-Anderson 682 680
193 Cohen syndrome 2829 paralysis paralysis
syndrome Hyperkalemic periodic
Radio-ulnar synostosis-retinal 682 680 NormoKPP
paralysis
193 Cohen syndrome 3271 pigment abnormalities Hyperkalemic periodic
syndrome 682 680 NormoPP
paralysis
Buntinx-Lormans-Martin Hyperkalemic periodic
193 Cohen syndrome 3271 682 680 Normokalemic PP
syndrome paralysis
Primary ciliary dyskinesia, Hyperkalemic periodic
244 Primary ciliary dyskinesia 98861 682 680 Periodic paralysis type 3
Kartagener type paralysis
Dextrocardia-bronchiectasis- Potassium-sensitive
244 Primary ciliary dyskinesia 98861 Hyperkalemic periodic
sinusitis syndrome 682 680 normokalemic periodic
Immotile cilia syndrome, paralysis
244 Primary ciliary dyskinesia 98861 paralysis
Kartagener type X-linked intellectual
244 Primary ciliary dyskinesia 98861 Kartagener syndrome Pelizaeus-Merzbacher
702 85333 disability-spastic paraplegia
disease
244 Primary ciliary dyskinesia 98861 Siewert syndrome with iron deposits syndrome
X-linked intellectual Pelizaeus-Merzbacher
280 Wolf-Hirschhorn syndrome 85291 702 85333 Arena syndrome
disability, Wittwer type disease
280 Wolf-Hirschhorn syndrome 85291 Wittwer syndrome X-linked intellectual
X-linked intellectual
280 Wolf-Hirschhorn syndrome 98788 Pitt-Rogers-Danks syndrome 776 disability with marfanoid 163953
disability, Raymond type
Intellectual disability- habitus
280 Wolf-Hirschhorn syndrome 98788 dysmorphism-intrauterine 782 Axenfeld-Rieger syndrome 1831 De Hauwere syndrome
growth retardation syndrome 782 Axenfeld-Rieger syndrome 1831 De Hauwere-Chitty syndrome
288 Hereditary elliptocytosis 98867 Hereditary pyropoikilocytosis Iris dysplasia-hypertelorism-
782 Axenfeld-Rieger syndrome 1831
288 Hereditary elliptocytosis 98864 Common hereditary deafness syndrome
→ Use these ORPHA number instead of the deprecated entities → Use these ORPHA number instead of the deprecated entities
ORPHA Deprecated ORPHA Deprecated

Disease to be used Deprecated entities Disease to be used Deprecated entities
number ORPHA number ORPHA
number number
794 Saethre-Chotzen syndrome 1219 Aurocephalosyndactyly loss-cardiac defects-
794 Saethre-Chotzen syndrome 1219 Auralcephalosyndactyly craniofacial dysmorphism
Kurczynski-Casperson syndrome
794 Saethre-Chotzen syndrome 1219 Autosomal dominant optic Treft-Sanborn-Carey
syndrome 1215 3349
794 3106 Robinow-Sorauf syndrome atrophy plus syndrome syndrome
Saethre-Chotzen syndrome
Optic atrophy-
798 Schinzel-Giedion syndrome 3118 Rudiger syndrome Autosomal dominant optic
1215 3349 ophthalmoplegia-ptosis-
823 Isolated spina bifida 93968 Meningocele atrophy plus syndrome
deafness-myopathy syndrome
869 Triple A syndrome 99777 Achalasia-alacrimia syndrome Autosomal dominant optic
Autosomal dominant optic
Waardenburg-Shah 1215 3212 atrophy and congenital
897 918 ABCD syndrome atrophy plus syndrome
syndrome deafness
Albinism-black lock-cell Autosomal dominant optic Konigsmark-Knox-Hussels
1215 3212
migration disorder of the atrophy plus syndrome syndrome
Waardenburg-Shah
897 918 neurocytes of the gut- Multiple pterygium
syndrome 1234 Bartsocas-Papas syndrome 79446
sensorineural deafness syndrome, Aslan type
syndrome 1263 Boomerang dysplasia 156723 Piepkorn dysplasia
De Sanctis-Cacchione Short ribs-craniosynostosis-
910 Xeroderma pigmentosum 1569 1263 Boomerang dysplasia 156723
syndrome polysyndactyly syndrome
Xeroderma pigmentosum Hypospadias-hypertelorism-
910 Xeroderma pigmentosum 1569 Branchioskeletogenital
with neurologic manifestation 1299 157788 coloboma and deafness
912 Zellweger syndrome 1271 Bowen syndrome syndrome
syndrome
Acroosteolysis dominant Serpentine fibula-polycystic 1359 Carney complex 623 NAME syndrome
955 2853
type kidneys syndrome Nevi-atrial myxoma-myxoid
Acroosteolysis dominant 1359 Carney complex 623 neurofibromata-ephelides
955 2853 Exner syndrome
type syndrome
969 Acromicric dysplasia 2569 Moore-Federman syndrome Craniofacial dysmorphism-
Dwarfism-stiff joint-ocular Cerebrofaciothoracic skeletal anomalies-
969 Acromicric dysplasia 2569 1394 228407
abnormalities syndrome dysplasia intellectual disability
Fetal akinesia deformation X-linked fetal akinesia syndrome
994 995
sequence syndrome Cerebrofaciothoracic
1394 228407 TMCO1 defect syndrome
Fetal akinesia deformation dysplasia
994 995 Holmes-Benacerraf syndrome
sequence 1426 Greenberg dysplasia 99645 Dappled diaphyseal dysplasia
Amelogenesis imperfecta- 1466 COFS syndrome 1317 CAMFAK syndrome
1031 Enamel-renal syndrome 171836
gingival hyperplasia syndrome 1466 COFS syndrome 1317 CAMAK syndrome
Ankyloblepharon-
Cataract-microcephaly-
1071 ectodermal defects-cleft 3022 Rapp-Hodgkin syndrome 1466 COFS syndrome 1317 arthrogryposis-kyphosis
lip/palate syndrome
syndrome
Ankyloblepharon- Anhidrotic ectodermic
Cataract-microcephaly-failure
1071 ectodermal defects-cleft 3022 dysplasia-cleft lip/palate 1466 COFS syndrome 1317 to thrive-kyphoscoliosis
lip/palate syndrome syndrome
syndrome
Ankyloblepharon-
Ectodermal dysplasia 1487 Cooks syndrome 2355 Kumar-Levick syndrome
1071 ectodermal defects-cleft 3022
syndrome, Rapp-Hodgkin type Nail dysplasia-camptodactyly-
lip/palate syndrome
1487 Cooks syndrome 2355 brachydactyly type B
Ankyloblepharon-
Ectodermal dysplasia, Rapp- syndrome
1071 ectodermal defects-cleft 3022
Hodgkin type Coxopodopatellar Patella aplasia-coxa vara-
lip/palate syndrome 1509 3112
syndrome tarsal synostosis syndrome
Ankyloblepharon-
1071 ectodermal defects-cleft 3022 RHS Xp22.3 microdeletion Ichthyosis-male
1643 431
lip/palate syndrome syndrome hypogonadism syndrome
Ankyloblepharon- Alveolar synechia- Absence of fingerprints- Ectodermal dysplasia-absent
1658 1235
1071 ectodermal defects-cleft 99694 ankyloblepharon-ectodermal congenital milia syndrome dermatoglyphs syndrome
lip/palate syndrome dysplasia syndrome Absence of fingerprints-
1658 1235 Basan syndrome
Progressive congenital milia syndrome
1159 pseudorheumatoid 2654 Syndesmodysplasic dwarfism 1762 Trisomy Xq28 85281 MECP2 duplication syndrome
arthropathy of childhood 1762 Trisomy Xq28 85281 Lubs-Arena syndrome
Progressive X-linked intellectual
Laplane-Fontaine-Lagardere 1762 Trisomy Xq28 85281
1159 pseudorheumatoid 2654 disability, Lubs type
syndrome
arthropathy of childhood X-linked intellectual
1762 Trisomy Xq28 85281
1200 Choanal atresia-hearing 77302 Oculo-oto-facial dysplasia disability-hypotonia-recurrent

number number
Infections syndrome disability
Renal dysplasia-megalocystis- Microcephaly-
1768 Familial caudal dysgenesis 1850 Autosomal dominant
sirenomelia syndrome lymphedema-
2526 1432 chorioretinopathy-
Selig-Benacerraf-Greene chorioretinopathy
1768 Familial caudal dysgenesis 1850 microcephaly syndrome
syndrome syndrome
Spondylometaphyseal Mayer-Rokitansky-Küster- Renal-genital-middle ear
Spondyloenchondrodyspla 2578 1092
1855 50816 dysplasia with combined Hauser syndrome type 2 anomalies
sia
immunodeficiency Isolated complex I
2609 936 Succinic acidemia
Spondyloenchondrodyspla deficiency
1855 50816 Roifman-Melamed syndrome
sia Dwarfism-tall vertebrae
2616 3M syndrome 2661
Spondyloenchondrodyspla syndrome
1855 50816 SPENCDI
sia Microcephalic Primordial short stature-
Spondyloenchondrodyspla Spondyloenchondrodysplasia 2637 osteodysplastic primordial 46658 microdontia-opalescent and
1855 50816
sia with immune dysregulation dwarfism type II rootless teeth syndrome
Ectrodactyly-ectodermal 2686 Cyclic neutropenia 2689 Intermittent neutropenia
1896 EEC syndrome 1888 dysplasia without clefting Arthrogryposis-renal
Fanconi syndrome-ichthyosis-
syndrome 2697 dysfunction-cholestasis 1981
dysmorphism syndrome
EEC syndrome without cleft syndrome
1896 EEC syndrome 1888
lip/palate Arthrogryposis-renal
Ectrodactyly-cleft palate 2697 dysfunction-cholestasis 1981 Deal-Barrat-Dillon syndrome
1896 EEC syndrome 1889
syndrome syndrome
1896 EEC syndrome 1889 ECP syndrome Arthrogryposis-renal
Biliary tract malformation-
1896 EEC syndrome 2389 Lewis-Pashayan syndrome 2697 dysfunction-cholestasis 3438
renal failure syndrome
syndrome
Cleft lip/palate-ectrodactyly
1896 EEC syndrome 2389 Arthrogryposis-renal Cholestatic jaundice-renal
syndrome
2697 dysfunction-cholestasis 3438 tubular insufficiency
Ehlers-Danlos syndrome,
1900 2691 Nevo syndrome syndrome syndrome
kyphoscoliotic type
Arthrogryposis-renal
Ehlers-Danlos syndrome, Cerebral gigantism, Nevo Lutz-Richner-Landolt
1900 2691 2697 dysfunction-cholestasis 3438
kyphoscoliotic type type syndrome
syndrome
Odonto-onycho-hypohidrotic
2036 3391 dysplasia-midline scalp Blepharophimosis-
Scalp-ear-nipple syndrome
Oculocerebrofacial intellectual disability
defects syndrome 2707 329255
syndrome, Kaufman type syndrome due to UBE3B
Ectodermal dysplasia-adrenal
2036 Scalp-ear-nipple syndrome 3391 deficiency
cyst syndrome
Oculofaciocardiodental Radiculomegaly of canine
2036 Scalp-ear-nipple syndrome 3391 Tuffli-Laxova syndrome 2712 3013
syndrome teeth- congenital cataract
2052 Fraser syndrome 2051 Fraser-like syndrome Oculofaciocardiodental
Epidermolytic Thost-Unna palmoplantar 2712 3013 Marashi-Gorlin syndrome
2199 496 syndrome
palmoplantar keratoderma keratoderma Orofaciodigital syndrome Orofaciodigital syndrome
Epidermolytic Non-epidermolytic 2750 90649
2199 496 type 1 type 7
palmoplantar keratoderma palmoplantar keratoderma Orofaciodigital syndrome
Epidermolytic Palmoplantar keratoderma 2750 90649 OFD7
2199 89833 type 1
palmoplantar keratoderma with tonotubular keratin Orofaciodigital syndrome Oral-facial-digital syndrome
Blepharofacioskeletal 2750 90649
2353 Schilbach-Rott syndrome 1251 type 1 type 7
syndrome Orofaciodigital syndrome
Richieri Costa-Guion Almeida- 2750 90649 Whelan syndrome
2353 Schilbach-Rott syndrome 1251 type 1
Rodini syndrome Acromegaly-cutis verticis
Shprintzen-Goldberg Kozlowski-Brown-Hardwick 2796 Pachydermoperiostosis 964 gyrata-corneal leukoma
2462 2352
syndrome syndrome syndrome
Anophthalmia-heart and Autosomal recessive
pulmonary anomalies- 2822 2168 Homocarnosinosis
2470 Matthew-Wood syndrome 91129 spastic paraplegia type 11
intellectual disability Autosomal recessive
syndrome 2822 2168 Homocarnosinase deficiency
spastic paraplegia type 11
Pinsky-Di George-Harley Mediterranean
2510 Micro syndrome 2895 2882 Sitosterolemia 101022
syndrome macrothrombocytopenia
Microphthalmia-intellectual Rothmund-Thomson Connective tissue dysplasia,
2510 Micro syndrome 2895 2909 3333
disability syndrome syndrome Spellacy type
Premature chromosome Rothmund-Thomson Spellacy-Gibbs-Watts
Autosomal recessive 2909 3333
2512 52183 condensation with syndrome syndrome
primary microcephaly
microcephaly and intellectual

number number
2911 Poland syndrome 956 Acropectororenal dysplasia Hereditary multicentric
3460 Torg-Winchester syndrome 2775
Baraitser-Winter Short stature-intellectual osteolysis
2995 cerebrofrontofacial 2649 disability-eye anomalies-cleft Woodhouse-Sakati Alopecia-hypogonadism-
3464 1011
syndrome lip/palate syndrome syndrome extrapyramidal syndrome
Baraitser-Winter Woodhouse-Sakati Devriendt-Legius-Fryns
Richieri Costa-Guion Almeida 3464 1011
2995 cerebrofrontofacial 2649 syndrome syndrome
syndrome
syndrome Bronchiectasis-oligospermia
3471 Young syndrome 1301
Baraitser-Winter syndrome
Cerebro-oculo-facial-
2995 cerebrofrontofacial 94084 Distichiasis-congenital heart
lymphatic syndrome Lymphedema-distichiasis
syndrome 33001 1683 defects-peripheral vascular
syndrome
Baraitser-Winter anomalies syndrome
2995 cerebrofrontofacial 94084 Fryns-Aftimos syndrome Lymphedema-distichiasis Lymphedema-ptosis
33001 2419
syndrome syndrome syndrome
Caudal regression Sacrococcygeal dysgenesis 33364 Trichothiodystrophy 1245 BIDS syndrome
3027 1773
sequence association 33364 Trichothiodystrophy 1245 Amish brittle hair syndrome
X-linked intellectual 33364 Trichothiodystrophy 1245 Trichothiodystrophy type D
Monoamine oxidase A disability-monoamine oxidase
3057 3065 33364 Trichothiodystrophy 670 PIBIDS syndrome
deficiency A metabolism anomaly
syndrome 33364 Trichothiodystrophy 670 Trichothiodystrophy type F
Anophthalmia-hypothalamo- Trichothiodystrophy-sun
Septo-optic dysplasia 33364 Trichothiodystrophy 670
3157 1102 pituitary insufficiency sensitivity syndrome
spectrum 33364 Trichothiodystrophy 453
syndrome IBIDS syndrome
Septo-optic dysplasia 14q22 microdeletion 33364 Trichothiodystrophy 453 Tay syndrome
3157 1102
spectrum syndrome 33364 Trichothiodystrophy 453 Trichothiodystrophy type E
Septo-optic dysplasia Al Frayh-Facharzt-Haque Trichothiodystrophy with
3157 1102 33364 Trichothiodystrophy 453
spectrum syndrome congenital ichthyosis
Septo-optic dysplasia Onycho-tricho-dysplasia-
3157 1102 Monosomy 14q22 33364 Trichothiodystrophy 2739
spectrum neutropenia syndrome
Septo-optic dysplasia 33364 Trichothiodystrophy 2739 Itin syndrome
3157 1678 Dincsoy-Salih-Patel syndrome
spectrum
33364 Trichothiodystrophy 2739 ONMR syndrome
Facial dysmorphism-
33364 Trichothiodystrophy 2739 Trichothiodystrophy type G
Septo-optic dysplasia ambiguous genitalia-
3157 1678 Brittle hair syndrome,
spectrum hypopituitarism-short limbs 33364 Trichothiodystrophy 3123
syndrome Sabinas type
Septo-optic dysplasia Hypopituitarism-micropenis- Brittle hair-mental deficiency
spectrum cleft lip/palate syndrome syndrome
Septo-optic dysplasia Hypopituitarism- 33364 Trichothiodystrophy 3123 Trichothiodystrophy type B
3157 2244
spectrum microphthalmia syndrome Beta-thalassemia-
Septo-optic dysplasia Kaplowitz-Bodurtha 33364 Trichothiodystrophy 231256 trichothiodystrophy
3157 2244 syndrome
spectrum syndrome
Hypothalamic insufficiency- 33364 Trichothiodystrophy 75790 Pollitt syndrome
Septo-optic dysplasia secondary microcephaly- Trichorrhexis nodosa
spectrum visual impairment-urinary syndrome
anomalies syndrome 33364 Trichothiodystrophy 75790 Trichothiodystrophy type C
Septo-optic dysplasia Corpus callosum dysgenesis- Trichothiodystrophy-
3157 93943
spectrum hypopituitarism syndrome 33364 Trichothiodystrophy 75790 neurocutaneous syndrome
Dehydrated hereditary Familial pseudohyperkalemia syndrome
3202 100039
stomatocytosis type 1 33364 Trichothiodystrophy 75789 SIBIDS syndrome
Margarita island ectodermal Trichothiodystrophy-
3253 Zlotogora-Ogur syndrome 90338 33364 Trichothiodystrophy 75789
dysplasia osteosclerosis syndrome
Microcephaly-intellectual Infantile neuroaxonal Hunter-Carpenter-McDonald
disability-phalangeal and 35069 2174
3255 Filippi syndrome 137658 dystrophy syndrome
neurological anomalies Myoclonus-dystonia
syndrome 36899 210566 Myoclonic dystonia 15
syndrome
Woods-Crouchman-Huson Myoclonus-dystonia
3255 Filippi syndrome 137658 36899 210566 DYT15
syndrome syndrome
3447 Weaver syndrome 3446 Weaver-like syndrome Myoclonus-dystonia
Autosomal recessive 36899 210566 Myoclonus-dystonia type 15
3460 Torg-Winchester syndrome 2775 syndrome
carpotarsal osteolysis 42738 Severe congenital 37629 Neonatal neutropenia

number number
neutropenia 79452 Milroy disease 79450 Milroy-like disease
Dandy-Walker malformation- 79500 DOORS syndrome 1674 Digitorenocerebral syndrome
42775 PHACE syndrome 1564
facial hemangioma syndrome 79500 DOORS syndrome 1674 DRC syndrome
Sternal malformation- Eronen-Somer-Gustafsson
42775 PHACE syndrome 3195 79500 DOORS syndrome 1674
vascular dysplasia syndrome syndrome
Deafness-opticoacoustic Punctate palmoplantar Palmoplantar porokeratosis
Mohr-Tranebjaerg 79502 736
52368 3213 nerve atrophy-dementia keratoderma type 2 of Mantoux
syndrome
syndrome
Ichthyosis hystrix of Curth-
Mohr-Tranebjaerg 79503 79504 Ichthyosis hystrix gravior
52368 3213 Jensen syndrome Macklin
syndrome
Ichthyosis hystrix of Curth-
Inclusion body myopathy 79503 79504 Ichthyosis, Lambert type
Macklin
with Paget disease of bone
52430 54238 Myotonic dystrophy type 3 Sacral hemangiomas-multiple
and frontotemporal
83628 LUMBAR syndrome 2125 congenital abnormalities
dementia
syndrome
Craniosynostosis-
Craniosynostosis-anal
53271 Muenke syndrome 1535 dysmorphism-brachydactyly Fukuda-Miyanomae-Nakata
85199 anomalies-porokeratosis 2060
syndrome syndrome
syndrome
Glass-Chapman-Hockley
53271 Muenke syndrome 1535 X-linked intellectual X-linked intellectual
syndrome 85293 85289
disability, Cabezas type disability, Vitale type
Lethal short-limb dwarfism,
56304 Atelosteogenesis type II 2640 Neutropenia-
McAlister-Crane type
T-cell large granular hyperlymphocytosis with
56304 Atelosteogenesis type II 2640 McAlister-Crane syndrome 86872 2687
lymphocyte leukemia large granular lymphocytes
60030 Loeys-Dietz syndrome 97295 Furlong syndrome syndrome
Marfanoid habitus- Non-hereditary late-onset
60030 Loeys-Dietz syndrome 97295 90186 Meige disease 90185
craniosynostosis syndrome primary lymphedema
Steroid-sensitive nephrotic 90186 Meige disease 90185 Meige-like disease
Idiopathic steroid-sensitive
69061 97552 syndrome without renal 90340 Blau syndrome 90341 Early-onset sarcoidosis
nephrotic syndrome
biopsy
Autosomal dominant non-
Hypotrichosis- Familial progressive
90635 syndromic sensorineural 1767
lymphedema- Glomerulonephritis-sparse vestibulocochlear dysfunction
69735 2087 deafness type DFNA
telangiectasia-renal defect hair-telangiectasis syndrome
Familial thoracic aortic Aortic dilatation-joint
syndrome
91387 aneurysm and aortic 88636 hypermobility-arterial
Spastic paraplegia-epilepsy- dissection tortuosity syndrome
Encephalopathy due to
71277 2816 intellectual disability
GLUT1 deficiency Spondyloepiphyseal Spondyloepiphyseal
syndrome 93284 163673
dysplasia tarda dysplasia, Byers type
Encephalopathy due to
71277 2816 SPEMR Spondyloepiphyseal
GLUT1 deficiency Spondyloepiphyseal
93284 163673 dysplasia-punctate corneal
Peroxisome biogenesis dysplasia tarda
79189 34 Pipecolic acidemia dystrophy syndrome
disorder
Peroxisome biogenesis X-linked intellectual
79189 34 Hyperpipecolatemia 93950 disability, Sutherland-Haan 93944
disorder disability, Fichera type
type
Glycogen storage disease Congenital adrenal
due to glucose-6- Glycogen storage disease Antley-Bixler syndrome with
79259 79261 hyperplasia due to
phosphatase deficiency type 1d 95699 63269 genital anomaly and disorder
cytochrome P450
type Ib of steroidogenesis
oxidoreductase deficiency
due to glucose-6- Ambiguous genitalia-
79259 79261 Type 1D glycogenosis hyperplasia due to
phosphatase deficiency 95699 63269 disordered steroidogenesis
cytochrome P450
type Ib Antley-Bixler-like syndrome
oxidoreductase deficiency
due to glucose-6- Glycogen storage disease hyperplasia due to Antley-Bixler syndrome type
79259 79260 95699 63269
phosphatase deficiency type 1c cytochrome P450 2
type Ib oxidoreductase deficiency
due to glucose-6- hyperplasia due to Antley-Bixler syndrome, POR-
79259 79260 Type 1C glycogenosis 95699 63269
phosphatase deficiency cytochrome P450 related
type Ib oxidoreductase deficiency
Non-hereditary congenital Riboflavin transporter Progressive bulbar paralysis
79452 Milroy disease 79450 97229 56965
primary lymphedema deficiency of childhood

number number
Riboflavin transporter Alport syndrome with
97229 56965 Fazio-Londe disease
deficiency 182050 MYH9-related disease 1984 leukocyte inclusions and
Riboflavin transporter Progressive bulbar palsy of macrothrombocytopenia
97229 56965
deficiency childhood 182050 MYH9-related disease 1019 Epstein syndrome
Spinocerebellar ataxia Spinocerebellar ataxia type Alport syndrome with
98769 98770 182050 MYH9-related disease 1019
type 15/16 16 macrothrombocytopenia
Spinocerebellar ataxia 182050 MYH9-related disease 807 Sebastian syndrome
98769 98770 SCA16
type 15/16 Macrothrombocytopenia
Spinocerebellar ataxia Spinocerebellar ataxia type 182050 MYH9-related disease 807
98772 101107 with leukocyte inclusions
type 19/22 22 Classic pantothenate
Spinocerebellar ataxia 216866 kinase-associated 157855 HARP syndrome
98772 101107 SCA22
type 19/22 neurodegeneration
Autosomal dominant Hypoprebetalipoproteinemia-
Paroxysmal hypnogenic Classic pantothenate
98784 nocturnal frontal lobe 98812 acanthocytosis-retinitis
dyskinesia 216866 kinase-associated 157855
epilepsy pigmentosa-pallidal
neurodegeneration
Autosomal dominant degeneration syndrome
Nocturnal paroxysmal
98784 nocturnal frontal lobe 98812 Xeroderma pigmentosum- Pellagra-like skin rash-
dystonia
epilepsy 220295 Cockayne syndrome 2837 neurological manifestations
Autosomal dominant complex syndrome
Paroxysmal hypnagogic
98784 nocturnal frontal lobe 98812 Familial cerebral Transverse limb deficiency-
dyskinesia 221061 2486
epilepsy cavernous malformation hemangioma syndrome
Autosomal dominant Generalized dominant Autosomal dominant
Paroxysmal hypnagogic
98784 nocturnal frontal lobe 98812 231568 dystrophic epidermolysis 216989 dystrophic epidermolysis
dystonia
epilepsy bullosa bullosa, Pasini type
Autosomal dominant Generalized dominant
Paroxysmal nocturnal
98784 nocturnal frontal lobe 98812 231568 dystrophic epidermolysis 216989 DDEB, Pasini type
dyskinesia
epilepsy bullosa
Autosomal dominant Autosomal dominant
98808 101151 Dystonia 14 Generalized dominant
dopa-responsive dystonia dystrophic epidermolysis
231568 dystrophic epidermolysis 79407
Autosomal dominant bullosa, Cockayne-Touraine
98808 101151 DYT14 bullosa
dopa-responsive dystonia type
Schnyder corneal Central discoid corneal Generalized dominant
98967 98968 DDEB, Cockayne-Touraine
dystrophy dystrophy 231568 dystrophic epidermolysis 79407
type
Dermato-cardio-skeletal bullosa
137834 Frank-Ter Haar syndrome 1266
syndrome, Borrone type Retinal vasculopathy with
Dyssegmental dysplasia, Dyssegmental dysplasia- cerebral
156731 1804 247691 3421 Cerebroretinal vasculopathy
Rolland-Desbuquois type glaucoma syndrome leukoencephalopathy and
Pigmented hypertrichosis systemic manifestations
168569 H syndrome 254723 with insulin-dependent Retinal vasculopathy with
diabetes mellitus syndrome cerebral
247691 3421 CRV
168569 H syndrome 254723 PHID leukoencephalopathy and
Familial sinus histiocytosis systemic manifestations
168569 H syndrome 254712 with massive Retinal vasculopathy with
lymphadenopathy cerebral Grand-Kaine-Fulling
247691 3421
Familial Rosaï-Dorfman leukoencephalopathy and syndrome
168569 H syndrome 254712 systemic manifestations
disease
168569 H syndrome 254712 Retinal vasculopathy with
Familial SHML
cerebral
168569 H syndrome 254707 Faisalabad histiocytosis 247691 63261 HERNS syndrome
leukoencephalopathy and
168569 H syndrome 254707 FHC systemic manifestations
Distal myopathy with early Retinal vasculopathy with
Hereditary myopathy with Hereditary endotheliopathy-
178464 34521 respiratory muscle cerebral
early respiratory failure 247691 63261 retinopathy-nephropathy-
involvement leukoencephalopathy and
stroke syndrome
May-Hegglin systemic manifestations
182050 MYH9-related disease 850
thrombocytopenia Retinal vasculopathy with
182050 MYH9-related disease 850 MHA cerebral Hereditary vascular
247691 71291
182050 MYH9-related disease 850 May-Hegglin anomaly leukoencephalopathy and retinopathy
182050 MYH9-related disease 850 May-Hegglin syndrome systemic manifestations
Retinal vasculopathy with
182050 MYH9-related disease 1984 Fechtner syndrome 247691 71291 HVR
cerebral

number number
leukoencephalopathy and anomalies-hypotonia- Golabi-Behmel syndrome
systemic manifestations seizures syndrome type 2
Retinal vasculopathy with Hereditary vascular Multiple congenital
cerebral retinopathy-Raynaud 300496 anomalies-hypotonia- 79022 SGBS2
247691 71291
leukoencephalopathy and phenomenon-migraine seizures syndrome type 2
systemic manifestations syndrome Familial dilated
Severe dilated
Xq27.3q28 duplication Vasquez-Hurst-Sotos cardiomyopathy with
261483 3423 300751 83618 cardiomyopathy due to lamin
syndrome syndrome conduction defect due to
A/C mutation
Hypogonadism- LMNA mutation
Xq27.3q28 duplication gynecomastia-X-linked Familial dilated
261483 3423 Severe dilated
syndrome intellectual disability cardiomyopathy with
300751 83618 cardiomyopathy with or
syndrome conduction defect due to
without myopathy
CHST3-related skeletal LMNA mutation
263463 1792 Humerospinal dysostosis
dysplasia Microcephaly-digital
CHST3-related skeletal Spondyloepiphyseal 313795 Jawad syndrome 137653 anomalies-intellectual
263463 93280
dysplasia dysplasia, Omani type disability syndrome
CHST3-related skeletal 313795 Jawad syndrome 137653 Kelly-Kirson-Wyatt syndrome
263463 93280 Humero-spinal dysostosis
dysplasia ATP13A2-related juvenile
Tomé-Brunet-Fardeau
Growth deficiency- 314632 neuronal ceroid 3336
14q22q23 microdeletion syndrome
264200 2055 brachydactyly-dysmorphism lipofuscinosis
syndrome
syndrome Glycogen storage disease due
14q22q23 microdeletion 319646 PGM1-CDG 711 to phosphoglucomutase
264200 2055 Frias syndrome
syndrome deficiency
8q21.11 microdeletion Ptosis-syndactyly-learning GSD due to
284160 238766
syndrome difficulties syndrome 319646 PGM1-CDG 711 phosphoglucomutase
284963 Marfan syndrome type 1 99715 MASS syndrome deficiency
Mitral valve-aorta-skeleton- 319646 PGM1-CDG 711 GSD type 14
284963 Marfan syndrome type 1 99715
skin syndrome 319646 PGM1-CDG 711 GSDXIV
293843 3MC syndrome 2453 Malpuech syndrome Glycogen storage disease
319646 PGM1-CDG 711
293843 3MC syndrome 2453 3MC3 syndrome type 14
Malpuech facial clefting Glycogen storage disease
293843 3MC syndrome 2453 319646 PGM1-CDG 711
syndrome type XIV
293843 3MC syndrome 2506 Michels syndrome Glycogenosis due to
319646 PGM1-CDG 711 phosphoglucomutase
293843 3MC syndrome 2506 3MC1 syndrome
deficiency
Oculopalatoskeletal
293843 3MC syndrome 2506 319646 PGM1-CDG 711 Glycogenosis type 14
syndrome
319646 PGM1-CDG 711 Glycogenosis type XIV
293843 3MC syndrome 2998 Carnevale syndrome
Phosphoglucomutase 1
293843 3MC syndrome 2998 3MC2 syndrome 319646 PGM1-CDG 711
deficiency
Carnevale-Krajewska-
293843 3MC syndrome 2998 Spastic paraplegia-optic
Fischetto syndrome Autosomal recessive spastic
320406 atrophy-neuropathy 401825
293843 3MC syndrome 2998 Mingarelli syndrome paraplegia type 68
syndrome
293843 3MC syndrome 2998 OSA syndrome Spastic paraplegia-optic
Oculo-skeletal-abdominal 320406 atrophy-neuropathy 401825 SPG68
293843 3MC syndrome 2998
syndrome syndrome
Ptosis-strabismus-rectus 324737 SRD5A3-CDG 168972 Kahrizi syndrome
293843 3MC syndrome 2998
abdominis diastasis syndrome Intellectual disability, Kahrizi
Hypoplastic pancreas- 324737 SRD5A3-CDG 168972
type
intestinal atresia- Intellectual disability-
293864 137862 Martínez-Frías syndrome
hypoplastic gallbladder 324737 SRD5A3-CDG 168972 cataract-coloboma-kyphosis
syndrome syndrome
Hypoplastic pancreas- Duodenal and extrahepatic 324737 SRD5A3-CDG 139477 Al-Gazali-Dattani syndrome
intestinal atresia- biliary atresia-hypoplastic
293864 137862 C3 deposition
hypoplastic gallbladder pancreas-intestinal
329931 C3 glomerulonephritis 93559 glomerulonephritis without
syndrome malrotation syndrome
proliferation
Multiple congenital
Simpson-Golabi-Behmel Autosomal recessive
300496 anomalies-hypotonia- 79022
syndrome type 2 severe congenital
seizures syndrome type 2 331176 178503 Dursun syndrome
neutropenia due to G6PC3
300496 Multiple congenital 79022 Lethal variant of Simpson- deficiency

number number
Autosomal recessive Male infertility with
Pulmonary arterial Male infertility due to
severe congenital 399808 teratozoospermia due to 352613
331176 178503 hypertension-leukopenia- NANOS1 mutation
neutropenia due to G6PC3 single gene mutation
atrial septal defect syndrome
deficiency Autosomal recessive distal
Autosomal recessive distal
Cutis verticis gyrata- 402041 93609 renal tubular acidosis without
Primary non-essential cutis renal tubular acidosis
357225 1557 intellectual disability deafness
verticis gyrata
syndrome Autosomal recessive distal
402041 93609 AR dRTA without deafness
357225 1557 McDowall syndrome
verticis gyrata Autosomal recessive distal
402041 93609 AR dRTA without hearing loss
Cutis verticis gyrata-retinitis renal tubular acidosis
Primary non-essential cutis
357225 217315 pigmentosa-sensorineural Autosomal recessive distal
verticis gyrata Autosomal recessive distal
deafness syndrome 402041 93609 renal tubular acidosis without
renal tubular acidosis
Cutis verticis gyrata-retinitis hearing loss
Primary non-essential cutis
357225 217315 pigmentosa-neurosensory Autosomal recessive distal Distal renal tubular acidosis
verticis gyrata 402041 93609
deafness syndrome renal tubular acidosis type 1c
Cutis verticis gyrata-retinitis Autosomal recessive distal
Primary non-essential cutis 402041 93609 dRTA type 1c
357225 217315 pigmentosa-neurosensory renal tubular acidosis
verticis gyrata
hearing loss syndrome Autosomal recessive distal
Cutis verticis gyrata-retinitis Autosomal recessive distal
402041 93611 renal tubular acidosis with
357225 217315 pigmentosa-sensorineural deafness
verticis gyrata
hearing loss syndrome Autosomal recessive distal
Cutis verticis gyrata-thyroid 402041 93611 AR dRTA with deafness
357225 79482 aplasia-intellectual disability Autosomal recessive distal
verticis gyrata 402041 93611 AR dRTA with hearing loss
syndrome renal tubular acidosis
Primary non-essential cutis Autosomal recessive distal Autosomal recessive distal
357225 79482 Akesson syndrome 402041 93611
verticis gyrata renal tubular acidosis RTA with deafness
Fatal infantile Autosomal recessive distal
Combined cervical Autosomal recessive distal
370114 293838 encephalopathy-pulmonary 402041 93611 renal tubular acidosis with
dystonia renal tubular acidosis
hypertension syndrome hearing loss
Congenital muscular Autosomal recessive distal Distal renal tubular acidosis
Congenital muscular 402041 93611
370953 dystrophy due to 52428 renal tubular acidosis type 1b
dystrophy type 1C
dystroglycanopathy Autosomal recessive distal
Congenital muscular 402041 93611 dRTA type 1b
renal tubular acidosis
370953 dystrophy due to 52428 CMD1C Double outlet right
dystroglycanopathy Double outlet right ventricle
ventricle with subaortic or
Congenital muscular 423693 99044 with subaortic ventricular
doubly committed
370953 dystrophy due to 52428 MDC1C septal defect
ventricular septal defect
dystroglycanopathy Double outlet right
Congenital muscular Double outlet right ventricle
Congenital muscular ventricle with subaortic or
370953 dystrophy due to 98894 423693 99047 with doubly committed
dystrophy type 1D doubly committed
dystroglycanopathy ventricular septal defect
ventricular septal defect
Congenital muscular Familial chylomicronemia
370953 dystrophy due to 98894 MDC1D 444490 411 Hyperlipoproteinemia type 1
syndrome
dystroglycanopathy Familial chylomicronemia
Male infertility with 444490 411 HLP type 1
Male infertility with normal syndrome
azoospermia or Autosomal recessive Brachyolmia type 1, Hobaek
399805 217034 virilization due to meiosis 448242 93301
oligozoospermia due to brachyolmia type
defect
single gene mutation
Autosomal recessive Brachyolmia type 1, Toledo
Male infertility with 448242 93303
brachyolmia type
azoospermia or Azoospermia due to
399805 217034 Pseudohypoparathyroidis
oligozoospermia due to maturation arrest Albright hereditary
457059 m with Albright hereditary 665
single gene mutation osteodystrophy
osteodystrophy
Male infertility with
azoospermia or Azoospermia due to meiosis X-linked intellectual
399805 217034 457240 disability-short stature- 3059
oligozoospermia due to defect disability, Gu type
overweight syndrome
Male infertility with
Male infertility with normal 457240 disability-short stature- 3059 MRX35
azoospermia or
399805 217034 virilization due to maturation overweight syndrome
oligozoospermia due to
arrest
For any questions or comments, please contact us: contact.orphanet@inserm.fr
Editor-in-chief : Ana Rath – Editor : David Kelly
Technical support : Samuel Demarest, Valérie Lanneau - Photography: Alliance Maladies Rares / Karine Lhémon
The correct form when quoting this document is :
« List of rare diseases and synonyms listed in alphabetical order », Orphanet Report Series, Rare Diseases collection,
January 2019,
This Orphanet Report Series is part of the joint action Direct Grant N°831390 which has received funding from the
European Union’s Health Programme (2014-2020).
The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it
can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and
Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not
accept any responsibility for use that may be made of the information it contains.

Lista de Enfermedades Raras Orphanet

Uploaded by

Document Information

Original Description:

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Lista de Enfermedades Raras Orphanet

Uploaded by

Copyright:

Available Formats

January 2019

List of rare diseases and synonyms:

ORPHA number of rare diseases registered in the past Data presentation

alphabetical order 505216 3-methylglutaconic aciduria type 9

ventricular septal defect 90037 Drug-induced AIHA 329802 Dup(5)(p13)

SMARCA4-deficient sarcoma of 2564 Sommer-Hines syndrome syndrome

→ Use these ORPHA number instead of the deprecated entities

→ Use these ORPHA number instead of the deprecated entities elliptocytosis

ORPHA Deprecated ORPHA Deprecated

ORPHA Deprecated ORPHA Deprecated

ORPHA Deprecated ORPHA Deprecated

ORPHA Deprecated ORPHA Deprecated

ORPHA Deprecated ORPHA Deprecated

ORPHA Deprecated ORPHA Deprecated

ORPHA Deprecated ORPHA Deprecated

You might also like