ClinVar Miner

Variants by Mondo condition

ClinVar version:
Total Mondo conditions: 9357
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Mondo condition
12p12.1 microdeletion syndrome
15q11q13 microduplication syndrome
16q24.3 microdeletion syndrome
2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
22q11.2 deletion syndrome
2q23.1 microdeletion syndrome
2q37 microdeletion syndrome
3-M syndrome
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyisobutyryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria, type VIII
3-phosphoglycerate dehydrogenase deficiency
3MC syndrome
3MC syndrome 1
3MC syndrome 2
3MC syndrome 3
46 XX gonadal dysgenesis
46,XX disorder of gonadal development
46,XX disorder of sex development
46,XX disorder of sex development induced by androgens excess
46,XX disorder of sex development induced by fetal androgens excess
46,XX disorder of sex development induced by fetoplacental androgens excess
46,XX ovarian dysgenesis-short stature syndrome
46,XX ovotesticular disorder of sex development
46,XX sex reversal 2
46,XX sex reversal 4
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY disorder of gonadal development
46,XY disorder of sex development
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to a cholesterol synthesis defect
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
46,XY disorder of sex development due to a testosterone synthesis defect
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
46,XY disorder of sex development due to impaired androgen production
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY disorder of sex development due to testicular steroidogenesis defect
46,XY disorder of sex development of endocrine origin
46,XY disorder of sex development of gynecological interest
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY partial gonadal dysgenesis
46,XY sex reversal 1
46,XY sex reversal 10
46,XY sex reversal 2
46,XY sex reversal 3
46,XY sex reversal 4
46,XY sex reversal 5
46,XY sex reversal 6
46,XY sex reversal 7
46,XY sex reversal 9
5-oxoprolinase deficiency (disease)
5q14.3 microdeletion syndrome
AAT1
ABCD syndrome
ABeta amyloidosis, Arctic type
ABeta amyloidosis, Iowa type
ABeta amyloidosis, Italian type
ABeta amyloidosis, dutch type
ABetaA21G amyloidosis
ABetaL34V amyloidosis
ABri amyloidosis
ACTH-dependent Cushing syndrome
ACTH-independent Cushing syndrome
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
ACys amyloidosis
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
ADULT syndrome
ADan amyloidosis
AFib amyloidosis
AGAT deficiency
AGMX2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AICA-ribosiduria
AL amyloidosis
ALDH18A1-related de Barsy syndrome
ALG1-CDG
ALG11-CDG
ALG12-CDG
ALG13-CDG
ALG2-CDG
ALG3-CDG
ALG8-CDG
ALG9-CDG
ANE syndrome
ARX-related encephalopathy-brain malformation spectrum
ARX-related epileptic encephalopathy
ATFB1
ATR-X-related syndrome
ATTRV122I amyloidosis
AUTS10
AUTS5
AUTS9
AVSD 1
Aarskog-Scott syndrome, X-linked
Abruzzo-Erickson syndrome
Adams-Oliver syndrome
Adams-Oliver syndrome 1
Adams-Oliver syndrome 2
Adams-Oliver syndrome 3
Adams-Oliver syndrome 4
Adams-Oliver syndrome 5
Adams-Oliver syndrome 6
Addison disease
Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Al Kaissi syndrome
Al-Raqad syndrome
Alagille syndrome
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Aland island eye disease
Alazami-Yuan syndrome
Alexander disease
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Alport syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Alstrom syndrome
Alzheimer disease
Alzheimer disease 18
Alzheimer disease 19
Alzheimer disease 2
Alzheimer disease 3
Alzheimer disease 4
Alzheimer disease 9
Alzheimer disease type 1
Amish infantile epilepsy syndrome
Amish lethal microcephaly
Andersen-Tawil syndrome
Angelman syndrome
Antley-Bixler syndrome
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Arts syndrome
Asperger syndrome, X-linked, susceptibility to, 1
Asperger syndrome, X-linked, susceptibility to, 2
Athabaskan brainstem dysgenesis syndrome
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
Ayme-Gripp syndrome
B cell deficiency
B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
B-cell neoplasm
B-cell non-Hodgkin lymphoma
B4GALT1-CDG
BAP1-related tumor predisposition syndrome
BCC1
BENTA disease
BH4-deficient hyperphenylalaninemia A
BNAR syndrome
BRESEK syndrome
Baller-Gerold syndrome
Bamforth-Lazarus syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Baraitser-Winter syndrome 1
Baraitser-winter syndrome 2
Barber-Say syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 20
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bart-Pumphrey syndrome
Barth syndrome
Bartsocas-Papas syndrome
Bartter disease type 1
Bartter disease type 2
Bartter disease type 3
Bartter disease type 4B
Bartter disease type 4a
Bartter disease type 5
Bartter syndrome
Bartter syndrome with hypocalcemia
Beare-Stevenson cutis gyrata syndrome
Becker muscular dystrophy
Beckwith-Wiedemann syndrome
Beemer-Langer syndrome
Behcet disease
Behr syndrome
Berardinelli-Seip congenital lipodystrophy
Bernard-Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Bethlem myopathy
Bethlem myopathy 1
Bethlem myopathy 2
Bietti crystalline corneoretinal dystrophy
Birbeck granule deficiency
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blau syndrome
Bloom syndrome
Bohring-Opitz syndrome
Bombay phenotype
Boomerang dysplasia
Borjeson-Forssman-Lehmann syndrome
Borrone di Rocco Crovato syndrome
Bosley-Salih-Alorainy syndrome
Bothnia retinal dystrophy
Bowen-Conradi syndrome
Branchioskeletogenital syndrome
Brody myopathy
Brooke-Spiegler syndrome
Brown-Vialetto-van Laere syndrome
Brown-Vialetto-van Laere syndrome 1
Bruck syndrome
Bruck syndrome 1
Bruck syndrome 2
Brugada syndrome
Brugada syndrome 1
Brugada syndrome 2
Brugada syndrome 3
Brugada syndrome 4
Brugada syndrome 5
Brugada syndrome 6
Brugada syndrome 7
Brugada syndrome 8
Brugada syndrome 9
Brunner syndrome
Bruton-type agammaglobulinemia
Budd-Chiari syndrome
Burkitt lymphoma
Buruli ulcer, susceptibility to
Buschke-Ollendorff syndrome
C1 inhibitor deficiency
C1Q deficiency
C3 glomerulonephritis
CAD-CDG
CADASIL
CADASIL 1
CADDS
CAMOS syndrome
CANDLE syndrome
CARASIL
CCDC115-CDG
CDKL5 disorder
CEDNIK syndrome
CHAND syndrome
CHARGE syndrome
CHIME syndrome
CIDEC-related familial partial lipodystrophy
CINCA syndrome
CK syndrome
CLAPO syndrome
CLOVES syndrome
CNS demyelinating autoimmune disease
CODAS syndrome
COFS syndrome
COG1-CDG
COG2-CDG
COG4-CDG
COG5-CDG
COG6-CGD
COG7-CDG
COG8-CDG
COL4A1 or COL4A2-related cerebral small vessel disease
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
COL4A1-related familial vascular leukoencephalopathy
COPD, severe early onset
Caffey disease
Camptosynpolydactyly, complex
Camurati-Engelmann disease
Canavan disease
Carey-Fineman-Ziter syndrome
Carney complex
Carney complex - trismus - pseudocamptodactyly syndrome
Carney complex, type 1
Carney triad
Carney-Stratakis syndrome
Carpenter syndrome
Carpenter syndrome 1
Carpenter syndrome 2
Carpenter-Waziri syndrome
Catel-Manzke syndrome
Cayman type cerebellar ataxia
Cenani-Lenz syndactyly syndrome
Cernunnos-XLF deficiency
Chandler syndrome
Char syndrome
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate b
Charcot-Marie-Tooth disease dominant intermediate c
Charcot-Marie-Tooth disease dominant intermediate d
Charcot-Marie-Tooth disease dominant intermediate f
Charcot-Marie-Tooth disease recessive intermediate a
Charcot-Marie-Tooth disease recessive intermediate b
Charcot-Marie-Tooth disease recessive intermediate c
Charcot-Marie-Tooth disease recessive intermediate d
Charcot-Marie-Tooth disease type 1
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease type X
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, dominant intermediate G
Charlevoix-Saguenay spastic ataxia
Chediak-Higashi syndrome
Chitayat syndrome
Chitotriosidase deficiency
Christianson syndrome
Chudley-Lowry-Hoar syndrome
Chudley-McCullough syndrome
Chuvash polycythemia
Clouston syndrome
Coats disease
Coats plus syndrome
Cockayne syndrome
Cockayne syndrome type 1
Cockayne syndrome type 2
Coffin-Lowry syndrome
Coffin-Siris syndrome
Coffin-Siris syndrome 1
Coffin-Siris syndrome 5
Coffin-Siris syndrome 6
Coffin-Siris syndrome 7
Cohen syndrome
Cohen-Gibson syndrome
Cole-Carpenter syndrome
Cole-Carpenter syndrome 1
Cole-Carpenter syndrome 2
Compton-North congenital myopathy
Cornelia de Lange syndrome
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 5
Costello syndrome
Cowden disease
Cowden syndrome 1
Cowden syndrome 2
Cowden syndrome 3
Cowden syndrome 4
Cowden syndrome 5
Cowden syndrome 6
Cowden syndrome 7
Creutzfeldt Jacob disease
Cri-du-chat syndrome
Crigler-Najjar syndrome
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Crisponi syndrome
Crohn disease
Cronkhite-Canada syndrome
Crouzon syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Currarino triad
Cushing disease due to pituitary adenoma
Cushing syndrome
Cushing syndrome due to macronodular adrenal hyperplasia
Czech dysplasia, metatarsal type
D,L-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 1
D-glyceric aciduria
DDH1
DDOST-CDG
DDX41-related hematologic malignancy predisposition syndrome
DEND syndrome
DFNM1
DK1-CDG
DNA ligase IV deficiency
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
DNA repair disease
DOCK2 deficiency
DOORS syndrome
DPAGT1-CDG
DPM3-CDG
DYRK1A-related intellectual disability syndrome
Dandy-Walker syndrome
Danon disease
Darier disease
Dent disease
Dent disease type 1
Dent disease type 2
Denys-Drash syndrome
Desbuquois dysplasia
Desbuquois dysplasia 1
Desbuquois dysplasia 2
DiGeorge syndrome
Diamond-Blackfan anemia
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Diamond-Blackfan anemia-like
Dias-Logan syndrome
Donnai-Barrow syndrome
Donohue syndrome
Dorfman-Chanarin disease
Dowling-Degos disease
Dowling-Degos disease 1
Dowling-Degos disease 2
Dowling-Degos disease 4
Doyne honeycomb retinal dystrophy
Dravet syndrome
Duane retraction syndrome
Duane retraction syndrome 2
Duane retraction syndrome 3 with or without deafness
Duane syndrome type 1
Duane-radial ray syndrome
Dubin-Johnson syndrome
Duchenne and Becker muscular dystrophy
Duchenne muscular dystrophy
Dyggve-Melchior-Clausen disease
EAST syndrome
EDICT syndrome
EEC syndrome
EEC syndrome and related syndrome
EEM syndrome
EIG
EIG7
Ebstein anomaly
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, arthrochalasis type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Ehlers-Danlos syndrome, kyphoscoliotic type
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type 1
Ehlers-Danlos syndrome, musculocontractural type 2
Ehlers-Danlos syndrome, periodontal type 1
Ehlers-Danlos syndrome, periodontal type 2
Ehlers-Danlos syndrome, periodontitis type
Ehlers-Danlos syndrome, progeroid type 1
Ehlers-Danlos syndrome, progeroid type, 2
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, vascular type
Eiken syndrome
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Epstein syndrome
Epstein-Barr virus-associated carcinoma
Epstein-Barr virus-associated malignant lymphoproliferative disorder
Epstein-Barr virus-associated mesenchymal tumor
Epstein-Barr virus-related tumor
Ewing sarcoma
Ewing sarcoma/peripheral primitive neuroectodermal tumor
FADD-related immunodeficiency
FAME1
FEB1
FG syndrome
FG syndrome 1
FG syndrome 2
FG syndrome 4
FGFR2-related bent bone dysplasia
FGFR3-related chondrodysplasia
FOXG1 disorder
FRAXE intellectual disability
FRTS1
FTDALS
FTDALS2
FTDALS3
FTDALS4
Fabry disease
Fanconi anemia
Fanconi anemia complementation group A
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group G
Fanconi anemia complementation group L
Fanconi anemia complementation group N
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group b
Fanconi anemia complementation group f
Fanconi anemia complementation group i
Fanconi anemia complementation group j
Fanconi anemia complementation group r
Fanconi anemia complementation group v
Fanconi anemia, complementation group S
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Fanconi syndrome
Farber lipogranulomatosis
Fechtner syndrome
Feingold syndrome
Feingold syndrome type 1
Feingold syndrome type 2
Filippi syndrome
Finnish type amyloidosis
Flaviviridae infectious disease
Frank-Ter Haar syndrome
Fraser syndrome
Fraser syndrome 1
Fraser syndrome 2
Fraser syndrome 3
Frasier syndrome
Friedreich ataxia
Fuchs' endothelial dystrophy
Fuhrmann syndrome
Fukuyama congenital muscular dystrophy
GABA aminotransferase deficiency
GATA2 deficiency with susceptibility to MDS/AML
GLC1B
GLC3B
GLUT1 deficiency syndrome
GM1 gangliosidosis
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM2 gangliosidosis
GM3 synthase deficiency
GNE myopathy
GTP-cyclohydrolase I deficiency
Gabriele de Vries syndrome
Galloway-Mowat syndrome
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 2, X-linked
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
Galloway-Mowat syndrome 5
Gamstorp-Wohlfart syndrome
Gardner syndrome
Gaucher disease
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Geleophysic dysplasia 2
Gerstmann-Straussler-Scheinker syndrome
Gilbert syndrome
Gillessen-Kaesbach-Nishimura syndrome
Gitelman syndrome
Glanzmann's thrombasthenia
Goldberg-Shprintzen megacolon syndrome
Gordon syndrome
Gorlin-Chaudhry-Moss syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Guillain-Barre syndrome
Guttmacher syndrome
H syndrome
HELLP syndrome
HSD10 disease
HTRA1-related cerebral small vessel disease
HYPRPP
Haddad syndrome
Hailey-Hailey disease
Haim-Munk syndrome
Harel-Yoon syndrome
Hartnup disease
Hartsfield-Bixler-Demyer syndrome
Hashimoto thyroiditis
Heimler syndrome 1
Heimler syndrome 2
Heinz body anemia
Helicobacter pylori infection, susceptibility to
Hennekam lymphangiectasia-lymphedema syndrome 1
Hennekam lymphangiectasia-lymphedema syndrome 2
Hennekam syndrome
Her2-receptor negative breast cancer
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 10
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 9
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis
Herpesviridae infectious disease
Hirschsprung disease
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 2
Hirschsprung disease, susceptibility to, 3
Hirschsprung disease, susceptibility to, 4
Hirschsprung disease-ganglioneuroblastoma syndrome
Hodgkins lymphoma
Holmes-Gang syndrome
Holt-Oram syndrome
Hoyeraal-Hreidarsson syndrome
Huntington disease
Huntington disease and related disorders
Huntington disease-like 1
Huntington disease-like 2
Huntington disease-like syndrome
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
Hyper-IgE recurrent infection syndrome 1
Hyperchlorhidrosis, isolated
IDDM 1
IGAN1
IHPS1
IL21-related infantile inflammatory bowel disease
IMAGe syndrome
IRIDA syndrome
IS1
IS3
ITM2B amyloidosis
ITPA-related encephalopathy
IVIC syndrome
IgA glomerulonephritis
IgA nephropathy, susceptibility to, 3
IgE responsiveness, atopic
Imerslund-Grasbeck syndrome
JMP syndrome
Jaberi-Elahi syndrome
Jackson-Weiss syndrome
Jacobsen syndrome
Jalili syndrome
Jawad syndrome
Jervell and Lange-Nielsen syndrome
Jervell and Lange-Nielsen syndrome 1
Jervell and Lange-Nielsen syndrome 2
Jervell-Lange Nielsen syndrome
Jeune syndrome
Johanson-Blizzard syndrome
Joubert syndrome
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 2
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 3
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome and related disorders
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juberg-Marsidi syndrome
KBG syndrome
KCNQ2-related epileptic encephalopathy
KID syndrome
KRT14-related epidermolysis bullosa simplex
Kabuki syndrome
Kabuki syndrome 1
Kabuki syndrome 2
Kahrizi syndrome
Kallmann syndrome
Kaposi sarcoma, susceptibility to
Kearns-Sayre syndrome
Keipert syndrome
Kennedy disease
Kenny-Caffey syndrome
Keppen-Lubinsky syndrome
Keutel syndrome
Kindler syndrome
Kleefstra syndrome
Kleefstra syndrome 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Klippel-Feil syndrome
Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 2, autosomal recessive
Klippel-Feil syndrome 3, autosomal dominant
Kniest dysplasia
Knobloch syndrome
Koolen de Vries syndrome
Kostmann syndrome
Krabbe disease
Krabbe disease, atypical, due to saposin A deficiency
Kufor-Rakeb syndrome
L-2-hydroxyglutaric aciduria
L-ferritin deficiency
L1 syndrome
LADD syndrome
LAMB2-related infantile-onset nephrotic syndrome
LCAT deficiency
LCC
LEOPARD syndrome 2
LEOPARD syndrome 3
LFS3
LIPE-related familial partial lipodystrophy
LPRS2
LVNC2
Lafora disease
Laing early-onset distal myopathy
Lamb-Shaffer syndrome
Landau-Kleffner syndrome
Langer mesomelic dysplasia
Laron syndrome
Laron syndrome with immunodeficiency
Larsen syndrome
Larsen-like syndrome, B3GAT3 type
Laurence-Moon syndrome
Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leber congenital amaurosis with early-onset deafness
Leber hereditary optic neuropathy
Leber optic atrophy and dystonia
Leber plus disease
Legg-Calve-Perthes disease
Legius syndrome
Leigh disease
Leigh syndrome
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Lennox-Gastaut syndrome
Lenz-Majewski hyperostotic dwarfism
Leri-Weill dyschondrosteosis
Lesch-Nyhan syndrome
Lewy body dementia
Leydig cell hypoplasia
Leydig cell hypoplasia, type 1
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 2
Lichtenstein-Knorr syndrome
Liddle syndrome
Liddle syndrome 1
Liddle syndrome 2
Lipedema (disease)
Loeys-Dietz syndrome
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 4
Lopes-Maciel-Rodan syndrome
Luscan-Lumish syndrome
Lynch syndrome
Lynch syndrome 1
MALT lymphoma
MASA syndrome
MASS syndrome
MED12-related intellectual disability syndrome
MEDNIK syndrome
MEHMO syndrome
MELAS syndrome
MEND syndrome
MERRF syndrome
MGAT2-CDG
MGS
MHC class I deficiency
MHC class II deficiency
MIRAGE syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
MMVP2
MOGS-CDG
MORM syndrome
MPDU1-CDG
MPI-CDG
MRCS syndrome
MRT32
MRX49
MRX52
MRX78
MRX88
MUTYH-related attenuated familial adenomatous polyposis
MYH-9 related disease
MYH7-related late-onset scapuloperoneal muscular dystrophy
MYMY1
Machado-Joseph disease
Majeed syndrome
Malan overgrowth syndrome
Marden-Walker syndrome
Marfan and Marfan-related disorder
Marfan syndrome
Marie Unna hereditary hypotrichosis
Marinesco-Sjogren syndrome
Marshall syndrome
Marshall-Smith syndrome
Matthew-wood syndrome
Mauriac syndrome
May-Hegglin anomaly
Mayer-Rokitansky-Kuster-Hauser syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome type 1
McCune-Albright syndrome
McKusick-Kaufman syndrome
McLeod neuroacanthocytosis syndrome
Meacham syndrome
Meckel syndrome
Meckel syndrome 13
Meckel syndrome, type 1
Meckel syndrome, type 10
Meckel syndrome, type 11
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Meckel syndrome, type 8
Meckel syndrome, type 9
Meesmann corneal dystrophy
Meester-Loeys syndrome
Megalodactyly
Meier-Gorlin syndrome
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
Meier-Gorlin syndrome 6
Meier-Gorlin syndrome 7
Meier-Gorlin syndrome 8
Melnick-Needles syndrome
Meniere disease
Menkes disease
Miles-Carpenter syndrome
Mitchell-Riley syndrome
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
Miyoshi myopathy
Mobius syndrome
Mowat-Wilson syndrome
Moyamoya disease
Moyamoya disease 2
Moyamoya disease 5
Moyamoya disease with early-onset achalasia
Moyamoya syndrome
Moyomoya angiopathy
Muckle-Wells syndrome
Muenke syndrome
Muir-Torre syndrome
Myhre syndrome
N-acetylaspartate deficiency
NAFLD1
NARP syndrome
NDE1-related microhydranencephaly
NEK9-related lethal skeletal dysplasia
NGLY1-deficiency
NIK deficiency
NNO1
NPHP3-related Meckel-like syndrome
NTHL1-related attenuated familial adenomatous polyposis
Naegeli-Franceschetti-Jadassohn syndrome
Nager acrofacial dysostosis
Nakajo-Nishimura syndrome
Nance-Horan syndrome
Nasu-Hakola disease
Native American myopathy
Navajo neurohepatopathy
Naxos disease
Nestor-Guillermo progeria syndrome
Netherton syndrome
Neu-Laxova syndrome
Neu-Laxova syndrome 1
Neu-Laxova syndrome 2
Newfoundland cone-rod dystrophy
Niemann-Pick disease
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Noonan syndrome
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 2
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
Noonan syndrome and Noonan-related syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 1
Norman-Roberts syndrome
Norrie disease
North Carolina macular dystrophy
Norum disease
Ochoa syndrome
Ogden syndrome
Oguchi disease
Oguchi disease-1
Oguchi disease-2
Ohdo syndrome and variants
Okt4 epitope deficiency
Okur-Chung neurodevelopmental syndrome
Omenn syndrome
Opitz G/BBB syndrome
PCNA-related progressive neurodegenerative photosensitivy syndrome
PCWH syndrome
PDA1
PEHO syndrome
PFAPA syndrome
PGM1-CDG
PGM3-CDG
PHACE syndrome
PHARC syndrome
PHGDH deficiency
PLA2G6-associated neurodegeneration
PLIN1-related familial partial lipodystrophy
PMM2-CDG
POROK1
POROK7
PPARG-related familial partial lipodystrophy
PSAT deficiency
PSPH deficiency
PTEN hamartoma tumor syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
PYCR1-related de Barsy syndrome
Paget disease of bone 2, early-onset
Paget disease of bone 3
Paget disease of bone 6
Pallister-hall syndrome
Papillon-Lefevre disease
Parkes Weber syndrome
Parkinson disease
Parkinson disease 11, autosomal dominant, susceptibility to
Parkinson disease 13, autosomal dominant, susceptibility to
Parkinson disease 17
Parkinson disease 18, autosomal dominant, susceptibility to
Parkinson disease 21
Parkinson disease 22, autosomal dominant
Parkinson disease 5, autosomal dominant, susceptibility to
Parkinson disease, mitochondrial
Partington syndrome
Pearson syndrome
Pelger-Huet anomaly
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher-like disease
Pendred syndrome
Perlman syndrome
Perrault syndrome
Perrault syndrome 1
Perrault syndrome 2
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Perrault syndrome 6
Perry syndrome
Peters anomaly (disease)
Peters plus syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phelan McDermid syndrome
Pick disease
Pierpont syndrome
Pierre Robin syndrome associated with a chromosomal anomaly
Pierre Robin syndrome associated with bone disease
Pierre Robin syndrome associated with branchial archs anomalies
Pierre Robin syndrome associated with collagen disease
Pierson syndrome
Pilarowski-Bjornsson syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome
Pitt-Hopkins-like syndrome 2
Potocki-Lupski syndrome
Prader-Willi syndrome
Prader-Willi syndrome due to point mutation
Preaxial polydactyly of fingers
Proteus syndrome
Proteus-like syndrome
Protrusio acetabuli (disease)
Pyle disease
Quebec platelet disorder
RASopathy
RFT1-CDG
RHYNS syndrome
RIDDLE syndrome
RIN2 syndrome
Rabson-Mendenhall syndrome
Rahman syndrome
Rapp-Hodgkin syndrome
Reis-Bucklers corneal dystrophy
Renier-Gabreels-Jasper syndrome
Renpenning syndrome
Rett syndrome
Rett syndrome, congenital variant
Revesz syndrome
Reynolds syndrome
Rh deficiency syndrome
Richieri Costa-Pereira syndrome
Rieger anomaly
Rienhoff syndrome
Riley-Day syndrome
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome 1
Ritscher-Schinzel syndrome 2
Roberts syndrome
Robinow syndrome
Robinow-Sorauf syndrome
Roifman syndrome
Rothmund-Thomson syndrome
Rotor syndrome
Roussy-Levy syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
SC phocomelia syndrome
SERKAL syndrome
SHORT syndrome
SHOX-related short stature
SIN3A-related intellectual disability syndrome
SLC35A1-CDG
SLC35A2-CDG
SLC39A8-CDG
SLSN3
SPGF1
SPOAN syndrome
SRD5A3-CDG
SSR4-CDG
STAT3-related early-onset multisystem autoimmune disease
STING-associated vasculopathy with onset in infancy
STT3A-CDG
STT3B-CDG
Saethre-Chotzen syndrome
Saldino-Mainzer syndrome
Salla disease
Sandhoff disease
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sanfilippo syndrome type D
Saul-Wilson syndrome
SchC6pf-Schulz-Passarge syndrome
Scheie syndrome
Scheuermann disease
Schimke immuno-osseous dysplasia
Schinzel-Giedion syndrome
Schmid metaphyseal chondrodysplasia
Schnyder corneal dystrophy
Schwartz-Jampel syndrome
Scott syndrome
Sebastian syndrome
Seckel syndrome
Seckel syndrome 1
Seckel syndrome 10
Seckel syndrome 2
Seckel syndrome 4
Seckel syndrome 5
Seckel syndrome 6
Seckel syndrome 7
Seckel syndrome 8
Seckel syndrome 9
Sengers syndrome
Senior-Boichis syndrome
Senior-Loken syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Senior-Loken syndrome 8
Senior-Loken syndrome 9
Sezary syndrome
Shashi-Pena syndrome
Sheldon-hall syndrome
Shprintzen-Goldberg syndrome
Shwachman-Diamond syndrome
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Sifrim-Hitz-Weiss syndrome
Silver-Russell syndrome
Silverman-Handmaker type dyssegmental dysplasia
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Singleton-Merten syndrome 1
Singleton-Merten syndrome 2
Sjogren-Larsson syndrome
Skraban-Deardorff syndrome
Smith-Fineman-Myers syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smith-McCort dysplasia
Smith-McCort dysplasia 1
Smith-McCort dysplasia 2
Sneddon syndrome
Sorsby's fundus dystrophy
Sotos syndrome
Sotos syndrome 1
Sotos syndrome 3
Spondyloenchondrodysplasia with immune dysregulation
Stankiewicz-Isidor syndrome
Stargardt disease
Stargardt disease 3
Stargardt disease 4
Steel syndrome
Stevens-Johnson syndrome
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome type 3
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Stormorken syndrome
Stromme syndrome
Sturge-Weber syndrome
Stüve-Wiedemann syndrome
Sweeney-Cox syndrome
T+ B+ severe combined immunodeficiency
T-B+ severe combined immunodeficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B- severe combined immunodeficiency
T-cell acute lymphoblastic leukemia
T-cell and NK-cell neoplasm
T-cell immunodeficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-cell leukemia
T-cell non-Hodgkin lymphoma
T-cell prolymphocytic leukemia
TBCK-related intellectual disability syndrome
TCR-alpha-beta-positive T-cell deficiency
TELO2-related intellectual disability-neurodevelopmental disorder
TFRC-related combined immunodeficiency
TH-deficient dopa-responsive dystonia
THC3
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
TMEM165-CDG
TMEM199-CDG
TRPV4-related bone disorder
Tangier disease
Tay-Sachs disease
Tay-Sachs disease AB variant
Tay-Sachs disease, B1 variant
Temple-Baraitser syndrome
Tenorio syndrome
Tessier number 4 facial cleft
Thiel-Behnke corneal dystrophy
Tietz syndrome
Timothy syndrome
Tn Polyagglutination syndrome
Torg-Winchester syndrome
Toriello-Lacassie-Droste syndrome
Tourette syndrome
Townes-Brocks syndrome
Townes-Brocks syndrome 1
Townes-Brocks syndrome 2
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Treacher-Collins syndrome
Treacher-Collins syndrome 1
Troyer syndrome
UPS18 deficiency
UV-sensitive syndrome
UV-sensitive syndrome 1
UV-sensitive syndrome 2
UV-sensitive syndrome 3
Uhl anomaly
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 2
Unverricht-Lundborg syndrome
Uruguay Faciocardiomusculoskeletal syndrome
Usher syndrome
Usher syndrome type 1
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome type 1G
Usher syndrome type 1J
Usher syndrome type 2
Usher syndrome type 2A
Usher syndrome type 2C
Usher syndrome type 2D
Usher syndrome type 3
Usher syndrome type 3A
Usher syndrome type 3B
VACTERL association, X-linked, with or without hydrocephalus
VACTERL with hydrocephalus
VACTERL/vater association
VUR1
Verheij syndrome
Ververi-Brady syndrome
Vici syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
WAGR syndrome
WHIM syndrome
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 2A
Waardenburg syndrome type 2D
Waardenburg syndrome type 2E
Waardenburg syndrome type 3
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C
Waardenburg-Shah syndrome
Wagner disease
Walker-Warburg syndrome
Warburg micro syndrome
Warburg micro syndrome 1
Warburg micro syndrome 2
Warburg micro syndrome 3
Warburg micro syndrome 4
Warsaw breakage syndrome
Watson syndrome
Weaver syndrome
Weill-Marchesani syndrome
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 3
Weissenbacher-Zweymuller syndrome
Werdnig-Hoffmann disease
Werner syndrome
West Nile fever
West Nile virus, susceptibility to
West syndrome
West-Nile encephalitis
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Williams syndrome
Wilms tumor
Wilms tumor 2
Wilms tumor 5
Wilms tumor 6
Wilms tumor type 1
Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome
Wilson disease
Wilson-Turner syndrome
Winchester syndrome
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome 2
Wolcott-Rallison syndrome
Wolf-Hirschhorn syndrome
Wolff-Parkinson-white syndrome (disease)
Wolfram syndrome
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome
Wolman disease
Woodhouse-Sakati syndrome
Worster-Drought syndrome
Worth syndrome
X-linked Alport syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked Opitz G/BBB syndrome
X-linked acrogigantism due to Xq26 microduplication
X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked centronuclear myopathy
X-linked cerebellar ataxia
X-linked cerebral adrenoleukodystrophy
X-linked cerebral-cerebellar-coloboma syndrome syndrome
X-linked chondrodysplasia punctata
X-linked chondrodysplasia punctata 1
X-linked chondrodysplasia punctata 2
X-linked cleft palate with or without ankyloglossia
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked complex spastic paraplegia
X-linked complicated corpus callosum dysgenesis
X-linked cone-rod dystrophy
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 3
X-linked congenital hemolytic anemia
X-linked congenital stationary night blindness
X-linked disease
X-linked distal hereditary motor neuropathy
X-linked distal spinal muscular atrophy type 3
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant disease
X-linked dominant hypophosphatemic rickets
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
X-linked dystonia-parkinsonism
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked erythropoietic protoporphyria
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
X-linked hyper-IgM syndrome
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemic rickets (recessive or dominant)
X-linked ichthyosis syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked intellectual disability due to GRIA3 anomalies
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Stocco dos Santos type
X-linked intellectual disability, van Esch type
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-epilepsy syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-hypotonic face syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome 2
X-linked mendelian susceptibility to mycobacterial diseases
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mixed deafness with perilymphatic gusher
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked nonsyndromic deafness
X-linked osteoporosis with fractures
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked recessive disease
X-linked recessive ocular albinism
X-linked reticulate pigmentary disorder
X-linked retinoschisis
X-linked scapuloperoneal muscular dystrophy
X-linked severe congenital neutropenia
X-linked sideroblastic anemia
X-linked sideroblastic anemia 1
X-linked sideroblastic anemia with ataxia
X-linked spondyloepimetaphyseal dysplasia
X-linked syndromic intellectual disability
X-linked thrombocytopenia with normal platelets
XFE progeroid syndrome
Yunis-Varon syndrome
ZTTK syndrome
Zellweger syndrome
Zimmermann-Laband syndrome
Zimmermann-Laband syndrome 1
Zimmermann-Laband syndrome 2
Zlotogora-Ogur syndrome
abdominal and pelvic region disorder
abdominal aortic aneurysm
abdominal obesity-metabolic syndrome
abdominal obesity-metabolic syndrome 3
abetalipoproteinemia
ablepharon macrostomia syndrome
absence of fingerprints-congenital milia syndrome
acanthosis nigricans (disease)
acatalasia
accelerated tumor formation, susceptibility to
aceruloplasminemia
acetazolamide-responsive myotonia
acetyl-CoA acetyltransferase-2 deficiency
acetylation, slow
achalasia (disease)
acheiropody
achondrogenesis
achondrogenesis type IA
achondrogenesis type IB
achondrogenesis type II
achondroplasia
achromatopsia
achromatopsia 2
achromatopsia 3
achromatopsia 4
achromatopsia 7
acidosis disorder
acne inversa, familial, 1
acne inversa, familial, 2
acne inversa, familial, 3
acquired Creutzfeldt-Jakob disease
acquired amyloid peripheral neuropathy
acquired angioedema
acquired aplastic anemia
acquired chronic primary adrenal insufficiency
acquired immunodeficiency
acquired lipodystrophy
acquired metabolic disease
acquired neuromuscular junction disease
acquired neutropenia
acquired partial lipodystrophy
acquired peripheral neuropathy
acquired pituitary hormone deficiency
acquired polycythemia vera
acquired skeletal muscle disease
acral peeling skin syndrome
acro-renal-ocular syndrome
acrocallosal syndrome
acrocapitofemoral dysplasia
acrocephalopolysyndactyly
acrocephalosyndactyly
acrodermatitis enteropathica
acrodysostosis
acrodysostosis 1 with or without hormone resistance
acrodysostosis 2 with or without hormone resistance
acrodysostosis with multiple hormone resistance
acrofacial dysostosis
acrofacial dysostosis Cincinnati type
acrofacial dysostosis, Weyers type
acrokeratoderma
acrokeratosis verruciformis
acroleukopathy, symmetric
acromegaly
acromelic dysplasia
acromelic frontonasal dysostosis
acromesomelic dysplasia
acromesomelic dysplasia, Demirhan type
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
acromicric dysplasia
acroosteolysis
acroosteolysis dominant type
acroosteolysis-keloid-like lesions-premature aging syndrome
action myoclonus-renal failure syndrome
activated PI3K-delta syndrome
actn3 deficiency
acute and subacute inflammatory demyelinating polyneuropathy
acute disease
acute erythroid leukemia
acute erythroleukemia, familial
acute hepatic porphyria
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
acute inflammatory demyelinating polyradiculoneuropathy
acute intermittent porphyria
acute interstitial pneumonia
acute leukemia (disease)
acute leukemia of ambiguous lineage
acute liver failure
acute lymphoblastic leukemia (disease)
acute megakaryoblastic leukemia
acute monocytic leukemia
acute myeloblastic leukemia with maturation
acute myeloid leukemia
acute myeloid leukemia with recurrent genetic anomaly
acute necrotizing encephalopathy of childhood
acute pancreatitis
acute proliferative glomerulonephritis
acute promyelocytic leukemia
acyl-CoA dehydrogenase 9 deficiency
acyl-CoA dehydrogenase deficiency
adenine phosphoribosyltransferase deficiency
adenocarcinoma
adenocarcinoma of gallbladder and extrahepatic biliary tract
adenocarcinoma of liver and intrahepatic biliary tract
adenoid cystic carcinoma
adenoiditis
adenoma
adenoma of small intestine
adenomatous colon polyp
adenosine deaminase deficiency
adenosine monophosphate deaminase deficiency
adenylosuccinate lyase deficiency
adolescence-adult electroclinical syndrome
adolescent-onset epilepsy syndrome
adolescent/adult-onset epilepsy syndrome
adrenal carcinoma
adrenal cortex adenoma
adrenal cortex carcinoma
adrenal cortex disease
adrenal cortex neoplasm
adrenal gland cancer
adrenal gland disease
adrenal gland hyperfunction
adrenal gland neoplasm
adrenal gland pheochromocytoma
adrenal medulla neoplasm
adrenal/paraganglial tumor
adrenocortical carcinoma, hereditary
adrenocortical insufficiency
adrenogenital syndrome
adult Refsum disease
adult T-cell leukemia/lymphoma
adult astrocytic tumour
adult fibrosarcoma
adult glioblastoma
adult hypophosphatasia
adult idiopathic neutropenia
adult infiltrating astrocytic neoplasm
adult lymphoma
adult neuronal ceroid lipofuscinosis
adult polyglucosan body disease
adult spinal cord ependymoma
adult spinal muscular atrophy
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
adult-onset foveomacular vitelliform dystrophy
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
adult-onset proximal spinal muscular atrophy, autosomal dominant
advanced sleep phase syndrome
advanced sleep phase syndrome 1
advanced sleep phase syndrome 2
advanced sleep phase syndrome 3
agammaglobulinemia
agammaglobulinemia 2, autosomal recessive
agammaglobulinemia 3, autosomal recessive
agammaglobulinemia 4, autosomal recessive
agammaglobulinemia 5, autosomal dominant
agammaglobulinemia 6, autosomal recessive
agammaglobulinemia 7, autosomal recessive
agammaglobulinemia 8, autosomal dominant
aganglionosis, total intestinal
age related macular degeneration 1
age related macular degeneration 11
age related macular degeneration 12
age related macular degeneration 13
age related macular degeneration 14
age related macular degeneration 15
age related macular degeneration 2
age related macular degeneration 4
age related macular degeneration 5
age related macular degeneration 6
age related macular degeneration 7
age related macular degeneration 8
age related macular degeneration 9
age-related macular degeneration
agenesis of the corpus callosum with peripheral neuropathy
aggrecan-related bone disorder
aggressive B-cell non-Hodgkin lymphoma
aggressive periodontitis
aggressive primary cutaneous T-cell lymphoma
agnathia-otocephaly complex
agranulocytosis
alacrima, achalasia, and mental retardation syndrome
albinism
alcohol dependence
alcohol sensitivity, acute
alcohol-induced mental disorder
alcohol-related disorders
aldosterone-producing adenoma with seizures and neurological abnormalities
aldosterone-producing adrenal cortex adenoma
alkaline ceramidase 3 deficiency
alkaptonuria
allergic disease
allergic urticaria
alobar holoprosencephaly
alopecia
alopecia - intellectual disability syndrome
alopecia areata
alopecia areata 1
alopecia congenita keratosis palmoplantaris
alopecia universalis
alopecia, isolated
alopecia-intellectual disability syndrome 1
alpha 1-antitrypsin deficiency
alpha granule disease
alpha thalassemia
alpha thalassemia-X-linked intellectual disability syndrome
alpha-2-plasmin inhibitor deficiency
alpha-N-acetylgalactosaminidase deficiency
alpha-N-acetylgalactosaminidase deficiency type 1
alpha-N-acetylgalactosaminidase deficiency type 2
alpha-N-acetylgalactosaminidase deficiency type 3
alpha-crystallinopathy
alpha-mannosidosis
alpha-methylacyl-CoA racemase deficiency
alpha-thalassemia and related diseases
alpha-thalassemia-myelodysplastic syndrome
alpha-thalassemia-related diseases
alternating hemiplegia
alternating hemiplegia of childhood
alternating hemiplegia of childhood 1
alternating hemiplegia of childhood 2
alveolar rhabdomyosarcoma (disease)
amblyopia (disease)
amelocerebrohypohidrotic syndrome
amelogenesis imperfecta
amelogenesis imperfecta hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A3
amelogenesis imperfecta hypomaturation type 2A4
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1E
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 2
amelogenesis imperfecta type 2A1
amelogenesis imperfecta type 3B
amelogenesis imperfecta, hypomaturation type, IIa6
amelogenesis imperfecta, type 1J
amelogenesis imperfecta, type 3A
amelogenesis imperfecta-gingival hyperplasia syndrome
amenorrhea (disease)
amino acid metabolism disease
amino acid or protein metabolism disease with epilepsy
amyloidosis (disease)
amyloidosis, primary localized cutaneous, 1
amyloidosis, primary localized cutaneous, 2
amyloidosis, primary localized cutaneous, 3
amyotrohpic lateral sclerosis type 22
amyotrophic lateral sclerosis
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 10
amyotrophic lateral sclerosis type 11
amyotrophic lateral sclerosis type 12
amyotrophic lateral sclerosis type 14
amyotrophic lateral sclerosis type 15
amyotrophic lateral sclerosis type 16
amyotrophic lateral sclerosis type 17
amyotrophic lateral sclerosis type 18
amyotrophic lateral sclerosis type 19
amyotrophic lateral sclerosis type 2
amyotrophic lateral sclerosis type 20
amyotrophic lateral sclerosis type 21
amyotrophic lateral sclerosis type 23
amyotrophic lateral sclerosis type 4
amyotrophic lateral sclerosis type 5
amyotrophic lateral sclerosis type 6
amyotrophic lateral sclerosis type 8
amyotrophic lateral sclerosis type 9
amyotrophic lateral sclerosis, susceptibility to, 24
amyotrophic lateral sclerosis, susceptibility to, 25
amyotrophic neuralgia
anaplastic astrocytoma
anaplastic cancer
anaplastic ependymoma
anaplastic/large cell medulloblastoma
anauxetic dysplasia
anauxetic dysplasia 1
anauxetic dysplasia 2
androgen insensitivity syndrome
anemia (disease)
anemia due to enzyme disorder
anemia due to erythrocyte enzyme disorder
anemia, congenital dyserythropoietic, type 1a
anemia, hypochromic microcytic with iron overload
anemia, nonspherocytic hemolytic
anemia, nonspherocytic hemolytic, due to G6PD deficiency
anencephaly
aneurysm-osteoarthritis syndrome
angioedema
angioedema, hereditary, type 1/2
angiokeratoma corporis diffusum with arteriovenous fistulas
angiomyolipoma
angioosteohypertrophic syndrome
angiosarcoma (disease)
anhaptoglobinemia
anhidrosis
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
aniridia
aniridia 1
aniridia 3
aniridia-cerebellar ataxia-intellectual disability syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankyloglossia
ankylosing spondylitis
annular epidermolytic ichthyosis
anomaly of puberty or/and menstrual cycle
anomaly of puberty or/and menstrual cycle of genetic origin
anomaly of the secretory and excretory apparatus of the lacrimal system
anophthalmia-microphthalmia syndrome
anophthalmia/microphthalmia-esophageal atresia syndrome
anorectal malformation
anosmia (disease)
anterior horn disease
anterior pituitary gland disease
anterior segment dysgenesis
anterior segment dysgenesis 1
anterior segment dysgenesis 3
anterior segment dysgenesis 4
anterior segment dysgenesis 6
anterior segment dysgenesis 7
anterior segment dysgenesis 8
antithrombin III deficiency
anus disease
anus, imperforate
anxiety
anxiety disorder
aorta coarctation
aortic aneurysm (disease)
aortic aneurysm, familial abdominal, 1
aortic aneurysm, familial thoracic 10
aortic aneurysm, familial thoracic 11, susceptibility to
aortic aneurysm, familial thoracic 2
aortic aneurysm, familial thoracic 4
aortic aneurysm, familial thoracic 6
aortic aneurysm, familial thoracic 7
aortic aneurysm, familial thoracic 8
aortic aneurysm, familial thoracic 9
aortic disease
aortic malformation
aortic stenosis
aortic valve atresia (disease)
aortic valve disease
aortic valve disease 1
aortic valve disease 2
aortic valve insufficiency
aortic valve stenosis
apert syndrome
aplasia cutis congenita (disease)
aplasia of lacrimal and salivary glands
aplastic anemia
apnea, central sleep
apocrine sweat gland disease
apolipoprotein A-I deficiency
apolipoprotein c-III deficiency
apparent mineralocorticoid excess
arachnoid cyst
arakawa syndrome 2
argininosuccinic aciduria
arhinia, choanal atresia, and microphthalmia
ariboflavinosis
aromatase deficiency
aromatase excess syndrome
aromatic L-amino acid decarboxylase deficiency
arrhinia-choanal atresia-microphthalmia syndrome
arrhythmogenic right ventricular cardiomyopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
arterial calcification of infancy
arterial calcification, generalized, of infancy, 1
arterial calcification, generalized, of infancy, 2
arterial disorder
arterial duct anomaly
arterial tortuosity syndrome
arteriosclerosis disorder
arteriovenous hemangioma/malformation
arteriovenous malformations of the brain
arteritis
arthritis
arthrogryposis
arthrogryposis multiplex congenita
arthrogryposis multiplex congenita, neurogenic, with myelin defect
arthrogryposis syndrome
arthrogryposis, Perthes disease, and upward gaze palsy
arthrogryposis, distal, type 1A
arthrogryposis, distal, type 1B
arthrogryposis, distal, with impaired proprioception and touch
arthrogryposis, renal dysfunction, and cholestasis 1
arthrogryposis, renal dysfunction, and cholestasis 2
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
arthrogryposis-like syndrome
arthrogryposis-renal dysfunction-cholestasis syndrome
arthropathy
ascending aorta anomaly
ascending colon cancer
aspartylglucosaminuria
aspergillosis
aspergillosis, susceptibility to
asphyxiating thoracic dystrophy 1
asphyxiating thoracic dystrophy 2
asphyxiating thoracic dystrophy 3
asphyxiating thoracic dystrophy 4
asphyxiating thoracic dystrophy 5
aspiration pneumonia (disease)
asthma
asthma, nasal polyps, and aspirin intolerance
asthma-related traits, susceptibility to, 1
asthma-related traits, susceptibility to, 2
asthma-related traits, susceptibility to, 5
asthma-related traits, susceptibility to, 7
astigmatism (disease)
astrocytic tumor
astrocytoma (excluding glioblastoma)
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ataxia - oculomotor apraxia type 4
ataxia - telangiectasia variant
ataxia - telangiectasia-like disorder
ataxia and polyneuropathy, adult-onset
ataxia neuropathy spectrum
ataxia telangiectasia
ataxia with dementia
ataxia with oculomotor apraxia type 1
ataxia with oculomotor apraxia type 3
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
ataxia-hypogonadism-choroidal dystrophy syndrome
ataxia-pancytopenia syndrome
ataxia-telangiectasia-like disorder 1
atelosteogenesis
atelosteogenesis type I
atelosteogenesis type II
atelosteogenesis type III
atopic dermatitis 2
atopic eczema
atransferrinemia
atresia of urethra (disease)
atrial conduction disease
atrial defect and interatrial communication
atrial fibrillation (disease)
atrial fibrillation, familial, 10
atrial fibrillation, familial, 11
atrial fibrillation, familial, 12
atrial fibrillation, familial, 13
atrial fibrillation, familial, 14
atrial fibrillation, familial, 15
atrial fibrillation, familial, 18
atrial fibrillation, familial, 3
atrial fibrillation, familial, 4
atrial fibrillation, familial, 6
atrial fibrillation, familial, 7
atrial fibrillation, familial, 9
atrial flutter (disease)
atrial heart septal defect
atrial heart septal defect 1
atrial heart septal defect 2
atrial heart septal defect 3
atrial heart septal defect 4
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
atrial standstill
atrial standstill 1
atrial standstill 2
atrial tachycardia
atrichia with papular lesions
atrioventricular block (disease)
atrioventricular dissociation (disease)
atrioventricular septal defect
atrioventricular septal defect 3
atrioventricular septal defect 4
atrioventricular septal defect 5
atrioventricular septal defect, susceptibility to, 2
atrioventricular valve anomaly
atrophoderma vermiculata
atrophy of testis
attention deficit hyperactivity disorder
attention deficit-hyperactivity disorder
attention deficit-hyperactivity disorder, susceptibility to, 7
attenuated familial adenomatous polyposis
atypical Gaucher disease due to saposin C deficiency
atypical Rett syndrome
atypical chronic myeloid leukemia
atypical glycine encephalopathy
atypical hemolytic-uremic syndrome
atypical hemolytic-uremic syndrome with B factor anomaly
atypical hemolytic-uremic syndrome with C3 anomaly
atypical hemolytic-uremic syndrome with I factor anomaly
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
atypical hemolytic-uremic syndrome with thrombomodulin anomaly
atypical juvenile parkinsonism
atypical progressive supranuclear palsy syndrome
atypical teratoid rhabdoid tumor
auditory neuropathy
auditory neuropathy and optic atrophy
auditory system disease
aural atresia, congenital
auriculocondylar syndrome
auriculocondylar syndrome 1
auriculocondylar syndrome 2
auriculocondylar syndrome 3
autism (disease)
autism spectrum disorder
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autism spectrum disorder due to AUTS2 deficiency
autism susceptibility 1
autism, susceptibility to, 15
autism, susceptibility to, 16
autism, susceptibility to, 17
autism, susceptibility to, 18
autism, susceptibility to, 19
autism, susceptibility to, X-linked 1
autism, susceptibility to, X-linked 2
autism, susceptibility to, X-linked 3
autism, susceptibility to, X-linked 4
autism, susceptibility to, X-linked 5
autoimmune bullous skin disease
autoimmune disease
autoimmune disease of blood
autoimmune disease of cardiovascular system
autoimmune disease of central nervous system
autoimmune disease of ear, nose and throat
autoimmune disease of endocrine system
autoimmune disease of gastrointestinal tract
autoimmune disease of musculoskeletal system
autoimmune disease of peripheral nervous system
autoimmune disease of the nervous system
autoimmune disease with skin involvement
autoimmune disease, multisystem, infantile-onset
autoimmune disease, multisystem, infantile-onset, 2
autoimmune disease, susceptibility to, 1
autoimmune disease, susceptibility to, 6
autoimmune enteropathy
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
autoimmune hemolytic anemia
autoimmune hypoparathyroidism (disease)
autoimmune interstitial lung disease-arthritis syndrome
autoimmune lymphoproliferative syndrome
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
autoimmune lymphoproliferative syndrome type 1
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autoimmune lymphoproliferative syndrome type 4
autoimmune neuropathy
autoimmune polyendocrine syndrome type 1
autoimmune polyendocrinopathy
autoimmune retinopathy
autoimmune thrombocytopenia
autoimmune thyroid disease
autoimmune thyroid disease, susceptibility to
autoimmune thyroid disease, susceptibility to, 3
autoimmune urticaria
autoinflammation with arthritis and dyskeratosis
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
autoinflammatory syndrome
autoinflammatory syndrome with immune deficiency
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
autoinflammatory syndrome with skin involvement
autonomic nervous system disease
autonomic nervous system neoplasm
autosomal agammaglobulinemia
autosomal anomaly
autosomal dominant Alport syndrome
autosomal dominant Charcot-Marie-Tooth disease type 2G
autosomal dominant Charcot-Marie-Tooth disease type 2K
autosomal dominant Charcot-Marie-Tooth disease type 2M
autosomal dominant Charcot-Marie-Tooth disease type 2W
autosomal dominant Ehlers-Danlos syndrome, vascular type
autosomal dominant Emery-Dreifuss muscular dystrophy
autosomal dominant Kenny-Caffey syndrome
autosomal dominant Opitz G/BBB syndrome
autosomal dominant Parkinson disease 1
autosomal dominant Parkinson disease 4
autosomal dominant Parkinson disease 8
autosomal dominant Robinow syndrome
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant aplasia and myelodysplasia
autosomal dominant auditory neuropathy 1
autosomal dominant brachyolmia
autosomal dominant centronuclear myopathy
autosomal dominant cerebellar ataxia
autosomal dominant cerebellar ataxia type I
autosomal dominant cerebellar ataxia type II
autosomal dominant cerebellar ataxia type III
autosomal dominant cerebellar ataxia type IV
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant childhood-onset proximal spinal muscular atrophy
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
autosomal dominant complex spastic paraplegia
autosomal dominant congenital benign spinal muscular atrophy
autosomal dominant cutis laxa
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant diffuse mutilating palmoplantar keratoderma
autosomal dominant disease
autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
autosomal dominant distal hereditary motor neuropathy
autosomal dominant distal myopathy
autosomal dominant distal renal tubular acidosis
autosomal dominant epidermolytic ichthyosis
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
autosomal dominant familial periodic fever
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
autosomal dominant hereditary axonal motor and sensory neuropathy
autosomal dominant hereditary demyelinating motor and sensory neuropathy
autosomal dominant hereditary sensory and autonomic neuropathy
autosomal dominant hyperinsulinism due to Kir6.2 deficiency
autosomal dominant hyperinsulinism due to SUR1 deficiency
autosomal dominant hypocalcemia
autosomal dominant hypocalcemia 1
autosomal dominant hypocalcemia 2
autosomal dominant hypohidrotic ectodermal dysplasia
autosomal dominant hypophosphatemic rickets
autosomal dominant ichthyosis vulgaris
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal dominant intermediate Charcot-Marie-Tooth disease
autosomal dominant isolated diffuse palmoplantar keratoderma
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant limb-girdle muscular dystrophy
autosomal dominant limb-girdle muscular dystrophy type 1A
autosomal dominant limb-girdle muscular dystrophy type 1B
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
autosomal dominant limb-girdle muscular dystrophy type 1F
autosomal dominant limb-girdle muscular dystrophy type 1G
autosomal dominant macrothrombocytopenia
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal dominant mitochondrial myopathy with exercise intolerance
autosomal dominant multiple pterygium syndrome
autosomal dominant neovascular inflammatory vitreoretinopathy
autosomal dominant nocturnal frontal lobe epilepsy
autosomal dominant nocturnal frontal lobe epilepsy 1
autosomal dominant nocturnal frontal lobe epilepsy 3
autosomal dominant nocturnal frontal lobe epilepsy 4
autosomal dominant nocturnal frontal lobe epilepsy 5
autosomal dominant non-syndromic intellectual disability
autosomal dominant nonsyndromic deafness
autosomal dominant nonsyndromic deafness 1
autosomal dominant nonsyndromic deafness 10
autosomal dominant nonsyndromic deafness 11
autosomal dominant nonsyndromic deafness 12
autosomal dominant nonsyndromic deafness 13
autosomal dominant nonsyndromic deafness 15
autosomal dominant nonsyndromic deafness 16
autosomal dominant nonsyndromic deafness 17
autosomal dominant nonsyndromic deafness 20
autosomal dominant nonsyndromic deafness 22
autosomal dominant nonsyndromic deafness 23
autosomal dominant nonsyndromic deafness 25
autosomal dominant nonsyndromic deafness 28
autosomal dominant nonsyndromic deafness 2A
autosomal dominant nonsyndromic deafness 2B
autosomal dominant nonsyndromic deafness 36
autosomal dominant nonsyndromic deafness 3A
autosomal dominant nonsyndromic deafness 3B
autosomal dominant nonsyndromic deafness 40
autosomal dominant nonsyndromic deafness 41
autosomal dominant nonsyndromic deafness 44
autosomal dominant nonsyndromic deafness 48
autosomal dominant nonsyndromic deafness 4A
autosomal dominant nonsyndromic deafness 4B
autosomal dominant nonsyndromic deafness 5
autosomal dominant nonsyndromic deafness 50
autosomal dominant nonsyndromic deafness 51
autosomal dominant nonsyndromic deafness 56
autosomal dominant nonsyndromic deafness 6
autosomal dominant nonsyndromic deafness 64
autosomal dominant nonsyndromic deafness 65
autosomal dominant nonsyndromic deafness 66
autosomal dominant nonsyndromic deafness 67
autosomal dominant nonsyndromic deafness 68
autosomal dominant nonsyndromic deafness 69
autosomal dominant nonsyndromic deafness 70
autosomal dominant nonsyndromic deafness 9
autosomal dominant omodysplasia
autosomal dominant optic atrophy
autosomal dominant optic atrophy plus syndrome
autosomal dominant optic atrophy, classic form
autosomal dominant osteopetrosis
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant osteosclerosis, Worth type
autosomal dominant palmoplantar keratoderma and congenital alopecia
autosomal dominant polycystic kidney disease
autosomal dominant popliteal pterygium syndrome
autosomal dominant progressive external ophthalmoplegia
autosomal dominant proximal spinal muscular atrophy
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant pure spastic paraplegia
autosomal dominant rhegmatogenous retinal detachment
autosomal dominant secondary polycythemia
autosomal dominant sensory ataxia 1
autosomal dominant severe congenital neutropenia
autosomal dominant sideroblastic anemia
autosomal dominant slowed nerve conduction velocity
autosomal dominant spastic ataxia
autosomal dominant spastic paraplegia type 9
autosomal dominant striatal neurodegeneration type 1
autosomal dominant vibratory urticaria
autosomal dominant vitreoretinochoroidopathy
autosomal dominant woolly hair
autosomal erythropoietic protoporphyria
autosomal genetic disease
autosomal ichthyosis syndrome
autosomal ichthyosis syndrome with fatal disease course
autosomal ichthyosis syndrome with other associated signs
autosomal ichthyosis syndrome with prominent hair abnormalities
autosomal ichthyosis syndrome with prominent neurologics signs
autosomal monosomy
autosomal recessive Alport syndrome
autosomal recessive Emery-Dreifuss muscular dystrophy
autosomal recessive Kenny-Caffey syndrome
autosomal recessive Parkinson disease 14
autosomal recessive Robinow syndrome
autosomal recessive Stickler syndrome
autosomal recessive agammaglobulinemia 1
autosomal recessive ataxia due to ubiquinone deficiency
autosomal recessive ataxia, Beauce type
autosomal recessive axonal hereditary motor and sensory neuropathy
autosomal recessive bestrophinopathy
autosomal recessive centronuclear myopathy
autosomal recessive cerebellar ataxia
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency
autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
autosomal recessive cerebellar ataxia due to a DNA repair defect
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
autosomal recessive complex spastic paraplegia
autosomal recessive complex spastic paraplegia type 9B
autosomal recessive congenital cerebellar ataxia
autosomal recessive congenital ichthyosis
autosomal recessive congenital ichthyosis 1
autosomal recessive congenital ichthyosis 10
autosomal recessive congenital ichthyosis 11
autosomal recessive congenital ichthyosis 2
autosomal recessive congenital ichthyosis 3
autosomal recessive congenital ichthyosis 4A
autosomal recessive congenital ichthyosis 4B
autosomal recessive congenital ichthyosis 5
autosomal recessive congenital ichthyosis 6
autosomal recessive congenital ichthyosis 8
autosomal recessive congenital ichthyosis 9
autosomal recessive cutis laxa type 1
autosomal recessive cutis laxa type 2
autosomal recessive cutis laxa type 2, classic type
autosomal recessive cutis laxa type 2A
autosomal recessive cutis laxa type 2B
autosomal recessive cutis laxa type 2c
autosomal recessive cutis laxa type 2d
autosomal recessive degenerative and progressive cerebellar ataxia
autosomal recessive disease
autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
autosomal recessive disease with focal palmoplantar keratoderma as a major feature
autosomal recessive distal hereditary motor neuropathy
autosomal recessive distal myopathy
autosomal recessive distal renal tubular acidosis
autosomal recessive distal spinal muscular atrophy 1
autosomal recessive distal spinal muscular atrophy 2
autosomal recessive early-onset Parkinson disease 6
autosomal recessive early-onset Parkinson disease 7
autosomal recessive early-onset Parksinson disease 23
autosomal recessive familial Mediterranean fever
autosomal recessive hereditary demyelinating motor and sensory neuropathy
autosomal recessive hereditary sensory and autonomic neuropathy
autosomal recessive hypercholesterolemia
autosomal recessive hypohidrotic ectodermal dysplasia
autosomal recessive hypophosphatemic rickets
autosomal recessive infantile hypercalcemia
autosomal recessive infantile hypercalcemia 1
autosomal recessive intermediate Charcot-Marie-Tooth disease
autosomal recessive isolated diffuse palmoplantar keratoderma
autosomal recessive juvenile Parkinson disease 2
autosomal recessive limb-girdle muscular dystrophy
autosomal recessive limb-girdle muscular dystrophy type 2A
autosomal recessive limb-girdle muscular dystrophy type 2B
autosomal recessive limb-girdle muscular dystrophy type 2C
autosomal recessive limb-girdle muscular dystrophy type 2D
autosomal recessive limb-girdle muscular dystrophy type 2E
autosomal recessive limb-girdle muscular dystrophy type 2F
autosomal recessive limb-girdle muscular dystrophy type 2G
autosomal recessive limb-girdle muscular dystrophy type 2H
autosomal recessive limb-girdle muscular dystrophy type 2I
autosomal recessive limb-girdle muscular dystrophy type 2J
autosomal recessive limb-girdle muscular dystrophy type 2K
autosomal recessive limb-girdle muscular dystrophy type 2L
autosomal recessive limb-girdle muscular dystrophy type 2M
autosomal recessive limb-girdle muscular dystrophy type 2N
autosomal recessive limb-girdle muscular dystrophy type 2O
autosomal recessive limb-girdle muscular dystrophy type 2P
autosomal recessive limb-girdle muscular dystrophy type 2Q
autosomal recessive limb-girdle muscular dystrophy type 2R
autosomal recessive limb-girdle muscular dystrophy type 2S
autosomal recessive limb-girdle muscular dystrophy type 2T
autosomal recessive limb-girdle muscular dystrophy type 2U
autosomal recessive limb-girdle muscular dystrophy type 2W
autosomal recessive limb-girdle muscular dystrophy type 2X
autosomal recessive limb-girdle muscular dystrophy type 2Y
autosomal recessive limb-girdle muscular dystrophy type 2Z
autosomal recessive lower motor neuron disease with childhood onset
autosomal recessive lymphoproliferative disease
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
autosomal recessive metabolic cerebellar ataxia
autosomal recessive multiple pterygium syndrome
autosomal recessive myogenic arthrogryposis multiplex congenita
autosomal recessive non-syndromic intellectual disability
autosomal recessive nonsyndromic deafness
autosomal recessive nonsyndromic deafness 101
autosomal recessive nonsyndromic deafness 102
autosomal recessive nonsyndromic deafness 103
autosomal recessive nonsyndromic deafness 104
autosomal recessive nonsyndromic deafness 12
autosomal recessive nonsyndromic deafness 15
autosomal recessive nonsyndromic deafness 16
autosomal recessive nonsyndromic deafness 18A
autosomal recessive nonsyndromic deafness 18B
autosomal recessive nonsyndromic deafness 1A
autosomal recessive nonsyndromic deafness 1B
autosomal recessive nonsyndromic deafness 2
autosomal recessive nonsyndromic deafness 21
autosomal recessive nonsyndromic deafness 22
autosomal recessive nonsyndromic deafness 23
autosomal recessive nonsyndromic deafness 24
autosomal recessive nonsyndromic deafness 25
autosomal recessive nonsyndromic deafness 26
autosomal recessive nonsyndromic deafness 28
autosomal recessive nonsyndromic deafness 29
autosomal recessive nonsyndromic deafness 3
autosomal recessive nonsyndromic deafness 30
autosomal recessive nonsyndromic deafness 31
autosomal recessive nonsyndromic deafness 32
autosomal recessive nonsyndromic deafness 35
autosomal recessive nonsyndromic deafness 36
autosomal recessive nonsyndromic deafness 37
autosomal recessive nonsyndromic deafness 39
autosomal recessive nonsyndromic deafness 4
autosomal recessive nonsyndromic deafness 42
autosomal recessive nonsyndromic deafness 44
autosomal recessive nonsyndromic deafness 48
autosomal recessive nonsyndromic deafness 49
autosomal recessive nonsyndromic deafness 53
autosomal recessive nonsyndromic deafness 59
autosomal recessive nonsyndromic deafness 6
autosomal recessive nonsyndromic deafness 61
autosomal recessive nonsyndromic deafness 63
autosomal recessive nonsyndromic deafness 66
autosomal recessive nonsyndromic deafness 67
autosomal recessive nonsyndromic deafness 68
autosomal recessive nonsyndromic deafness 7
autosomal recessive nonsyndromic deafness 70
autosomal recessive nonsyndromic deafness 74
autosomal recessive nonsyndromic deafness 76
autosomal recessive nonsyndromic deafness 77
autosomal recessive nonsyndromic deafness 79
autosomal recessive nonsyndromic deafness 8
autosomal recessive nonsyndromic deafness 84A
autosomal recessive nonsyndromic deafness 84B
autosomal recessive nonsyndromic deafness 86
autosomal recessive nonsyndromic deafness 88
autosomal recessive nonsyndromic deafness 89
autosomal recessive nonsyndromic deafness 9
autosomal recessive nonsyndromic deafness 91
autosomal recessive nonsyndromic deafness 93
autosomal recessive nonsyndromic deafness 97
autosomal recessive nonsyndromic deafness 98
autosomal recessive ocular albinism
autosomal recessive omodysplasia
autosomal recessive optic atrophy
autosomal recessive optic atrophy, OPA7 type
autosomal recessive osteopetrosis
autosomal recessive osteopetrosis 1
autosomal recessive osteopetrosis 2
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 4
autosomal recessive osteopetrosis 5
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis 7
autosomal recessive osteopetrosis 8
autosomal recessive polycystic kidney disease
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
autosomal recessive primary microcephaly
autosomal recessive progressive external ophthalmoplegia
autosomal recessive proximal renal tubular acidosis
autosomal recessive pseudohypoaldosteronism type 1
autosomal recessive pure spastic paraplegia
autosomal recessive severe congenital neutropenia
autosomal recessive severe congenital neutropenia due to CSF3R deficiency
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
autosomal recessive sideroblastic anemia
autosomal recessive spastic ataxia
autosomal recessive spastic paraplegia type 76
autosomal recessive spinocerebellar ataxia 10
autosomal recessive spinocerebellar ataxia 11
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spinocerebellar ataxia 13
autosomal recessive spinocerebellar ataxia 14
autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 16
autosomal recessive spinocerebellar ataxia 17
autosomal recessive spinocerebellar ataxia 18
autosomal recessive spinocerebellar ataxia 2
autosomal recessive spinocerebellar ataxia 20
autosomal recessive spinocerebellar ataxia 7
autosomal recessive spondylocostal dysostosis
autosomal recessive spondylometaphyseal dysplasia, Megarbane type
autosomal recessive syndromic cerebellar ataxia
autosomal systemic lupus erythematosus
autosomal thrombocytopenia with normal platelets
autosomal trisomy
autosomal uniparental disomy
avascular necrosis
avascular necrosis of femoral head, primary, 1
avascular necrosis of femoral head, primary, 2
avascular necrosis of genetic origin
axial spondylometaphyseal dysplasia
axonal hereditary motor and sensory neuropathy
axonal neuropathy
azoospermia
bacteremia, susceptibility
bacteremia, susceptibility to, 2
bacterial infectious disease
band heterotopia of brain
bardet-biedl syndrome 21
basal cell carcinoma, susceptibility to, 7
basal epidermolysis bullosa simplex
basal ganglia calcification, idiopathic, 1
basal ganglia calcification, idiopathic, 4
basal ganglia calcification, idiopathic, 5
basal ganglia calcification, idiopathic, 6
basal ganglia disease
basal laminar drusen
behavioral variant of frontotemporal dementia
benign PEComa
benign adult familial myoclonic epilepsy
benign blood vessel neoplasm
benign choroid plexus neoplasm
benign concentric annular macular dystrophy
benign conjunctival neoplasm
benign connective and soft tissue neoplasm
benign digestive system neoplasm
benign endocrine neoplasm
benign epithelial neoplasm
benign eyelid neoplasm
benign familial infantile epilepsy
benign familial mesial temporal lobe epilepsy
benign familial neonatal-infantile seizures
benign female reproductive system neoplasm
benign lipomatous neoplasm
benign muscle neoplasm
benign neonatal seizures
benign neoplasm
benign neoplasm of adrenal gland
benign neoplasm of brain
benign neoplasm of cerebellum
benign neoplasm of corpus uteri
benign neoplasm of eye
benign neoplasm of heart
benign neoplasm of parathyroid gland
benign neoplasm of peripheral nervous system
benign neoplasm of sebaceous gland
benign neoplasm of skin
benign partial infantile seizures
benign peripheral nerve sheath tumor
benign perivascular tumor
benign recurrent intrahepatic cholestasis
benign recurrent intrahepatic cholestasis type 1
benign recurrent intrahepatic cholestasis type 2
benign reproductive system neoplasm
benign smooth muscle neoplasm
benign soft tissue neoplasm
benign thyroid gland neoplasm
benign tumor of palpebral epidermis
benign urinary system neoplasm
bent bone dysplasia
beta thalassemia
beta-aminoisobutyric acid, urinary excretion of
beta-ketothiolase deficiency
beta-mannosidosis
beta-thalassemia HBB/LCRB
beta-thalassemia and related diseases
beta-thalassemia associated with another hemoglobin anomaly
beta-thalassemia major
beta-thalassemia with other manifestations
beta-thalassemia-X-linked thrombocytopenia syndrome
beta-ureidopropionase deficiency
bifid nose
bifid uvula
bilateral breast carcinoma
bilateral frontal polymicrogyria
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral microtia-deafness-cleft palate syndrome
bilateral parasagittal parieto-occipital polymicrogyria
bilateral perisylvian polymicrogyria
bilateral polymicrogyria
bilateral striopallidodentate calcinosis
bile acid malabsorption, primary
bile acid synthesis defect with cholestasis and malabsorption
bile duct adenocarcinoma
bile duct cancer
bile duct carcinoma
bile duct disease
bile duct neoplasm
biliary tract cancer
biliary tract disease
biliary tract neoplasm (disease)
bilineal acute myeloid leukemia
bilirubin metabolism disease
biological anomaly without phenotypic characterization
biotin metabolic disease
biotin-responsive basal ganglia disease
biotinidase deficiency
bipolar disorder
bladder exstrophy (disease)
bladder exstrophy-epispadias-cloacal exstrophy complex
bladder transitional cell carcinoma
blastoma
bleeding diathesis due to a collagen receptor defect
bleeding diathesis due to thromboxane synthesis deficiency
bleeding disorder, platelet-type, 21
blepharitis
blepharo-cheilo-odontic syndrome
blepharocheilodontic syndrome 1
blepharocheilodontic syndrome 2
blepharophimosis (disease)
blepharophimosis - intellectual disability syndrome
blepharophimosis - intellectual disability syndrome, MKB type
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharospasm
blindness (disorder)
blood coagulation disease
blood platelet disease
blood protein disease
blood vessel neoplasm
blue color blindness
blue cone monochromacy
blue rubber bleb nevus
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
bone Paget disease
bone benign neoplasm
bone cancer
bone carcinoma
bone development disease
bone disease
bone inflammation disease
bone marrow cancer
bone marrow disease
bone marrow failure syndrome
bone marrow failure syndrome 3
bone marrow failure syndrome 4
bone marrow neoplasm
bone neoplasm
bone osteosarcoma
bone remodeling disease
bone resorption disease
bone sarcoma
bowel dysfunction
brachial plexus neuropathy
brachycephaly, trichomegaly, and developmental delay
brachydactyly (disease)
brachydactyly type A1
brachydactyly type A1A
brachydactyly type A1C
brachydactyly type A1D
brachydactyly type A2
brachydactyly type B
brachydactyly type B1
brachydactyly type B2
brachydactyly type C
brachydactyly type D
brachydactyly type E
brachydactyly type E1
brachydactyly type E2
brachydactyly-arterial hypertension syndrome
brachydactyly-syndactyly syndrome
brachyolmia
brachyolmia-amelogenesis imperfecta syndrome
bradyopsia
brain aneurysm
brain calcification, Rajab type
brain cancer
brain demyelination due to methionine adenosyltransferase deficiency
brain disease
brain germinoma
brain glioma
brain inflammatory disease
brain ischemia
brain neoplasm
brain stem glioma
brain-lung-thyroid syndrome
brainstem cancer
brainstem neoplasm
branched-chain keto acid dehydrogenase kinase deficiency
branchial arch or oral-acral syndrome
branchio-oto-renal syndrome
branchiooculofacial syndrome
branchiootic syndrome
branchiootic syndrome 1
branchiootic syndrome 3
branchiootorenal syndrome 1
branchiootorenal syndrome 2
breast adenocarcinoma
breast benign neoplasm
breast cancer
breast carcinoma
breast carcinoma by gene expression profile
breast disease
breast ductal adenocarcinoma
breast lobular carcinoma
breast neoplasm
breast-ovarian cancer, familial, susceptibility to, 1
breast-ovarian cancer, familial, susceptibility to, 2
breast-ovarian cancer, familial, susceptibility to, 3
breast-ovarian cancer, familial, susceptibility to, 4
breasts and/or nipples, aplasia or hypoplasia of, 2
brittle cornea syndrome
brittle cornea syndrome 1
brittle cornea syndrome 2
bronchial disease
bronchiectasis
bronchiectasis with or without elevated sweat chloride 1
bronchiectasis with or without elevated sweat chloride 2
bronchiectasis with or without elevated sweat chloride 3
bronchiolitis (disease)
bronchogenic cyst (disease)
brown-Vialetto-van Laere syndrome 2
bruxism (disease)
bulbar conjunctival dermoid or conjunctival dermolipoma
bulbospinal muscular atrophy
bulbospinal muscular atrophy of adulthood
bulbospinal muscular atrophy of childhood
butyrylcholinesterase deficiency
c syndrome
calcinosis
calcium metabolic disease
calvarial doughnut lesions-bone fragility syndrome
campomelic dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
cancer
candidiasis, familial, 4
candidiasis, familial, 6
candidiasis, familial, 8
candidiasis, familial, 9
canthal anomaly
cap myopathy
capillary hemangioma
capillary infantile hemangioma
capillary malformation
capillary malformation-arteriovenous malformation syndrome
carbamoyl phosphate synthetase I deficiency disease
carbohydrate metabolism disease
carbohydrate transport disease
carboxypeptidase N deficiency
carcinoid syndrome
carcinoid tumor (disease)
carcinoma
carcinoma of duodenum
carcinoma of esophagus
carcinoma of gallbladder and extrahepatic biliary tract
carcinoma of liver and intrahepatic biliary tract
carcinoma of pharynx
carcinosarcoma
carcinosarcoma of the corpus uteri
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiac arrest
cardiac arrhythmia, ankyrin-b-related
cardiac disease with cataract
cardiac germ cell tumor
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
cardiac rhabdomyoma (disease)
cardiac rhythm disease
cardiac valvular defect, developmental
cardiac valvular dysplasia, X-linked
cardiac ventricle disease
cardiocutaneous syndrome
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
cardiofaciocutaneous syndrome
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
cardiomyopathy
cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
cardiomyopathy, familial hypertrophic 27
cardiomyopathy, familial restrictive, 1
cardiomyopathy, familial restrictive, 3
cardiomyopathy, infantile hypertrophic
cardiomyopathy-hypotonia-lactic acidosis syndrome
cardiospondylocarpofacial syndrome
cardiovascular cancer
cardiovascular disease
cardiovascular neoplasm
cardiovascular organ benign neoplasm
carnitine acetyltransferase deficiency
carnitine palmitoyl transferase 1A deficiency
carnitine palmitoyl transferase II deficiency, myopathic form
carnitine palmitoyl transferase II deficiency, neonatal form
carnitine palmitoyl transferase II deficiency, severe infantile form
carnitine palmitoyltransferase II deficiency
carnitine-acylcarnitine translocase deficiency
carotid artery disease
carotid artery dissection
carotid artery occlusion
carotid body paraganglioma
carotid stenosis
carpal tunnel syndrome
carpal tunnel syndrome 1
cartilage-hair hypoplasia
cat-eye syndrome
cataract (disease)
cataract - microcornea syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types
cataract 12 multiple types
cataract 13 with adult I phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 18
cataract 19 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 23
cataract 3 multiple types
cataract 30
cataract 31 multiple types
cataract 33
cataract 34 multiple types
cataract 36
cataract 38
cataract 39 multiple types
cataract 4 multiple types
cataract 40
cataract 41
cataract 43
cataract 44
cataract 45
cataract 46 juvenile-onset
cataract 5 multiple types
cataract 6 multiple types
cataract 9 multiple types
cataract associated with a metabolic disease
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
cataract-intellectual disability-hypogonadism syndrome
catecholamine-producing tumor
catecholaminergic polymorphic ventricular tachycardia
catecholaminergic polymorphic ventricular tachycardia 1
catecholaminergic polymorphic ventricular tachycardia 2
catecholaminergic polymorphic ventricular tachycardia 3
catecholaminergic polymorphic ventricular tachycardia 4
catecholaminergic polymorphic ventricular tachycardia 5
cattle disease
caudal duplication
caveolinopathy
cavernous hemangioma
cavernous sinus meningioma
celiac disease, susceptibility to, 3
celiac disease, susceptibility to, 4
cell proliferation disorder
centra precocious puberty 1
central areolar choroidal dystrophy
central centrifugal cicatricial alopecia
central congenital hypothyroidism
central core myopathy
central diabetes insipidus
central nervous system cancer
central nervous system cystic malformation
central nervous system disease
central nervous system germ cell tumor
central nervous system germinoma
central nervous system hemangioma
central nervous system infectious disorder
central nervous system malformation
central nervous system neoplasm
central nervous system organ benign neoplasm
central nervous system sarcoma
central nervous system vasculitis
central precocious puberty
central sleep apnea syndrome
centronuclear myopathy
cephalocele (disease)
cerebellar ataxia
cerebellar ataxia with peripheral neuropathy
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
cerebellar ataxia-hypogonadism syndrome
cerebellar atrophy, developmental delay, and seizures
cerebellar atrophy, visual impairment, and psychomotor retardation;
cerebellar degeneration
cerebellar disease
cerebellar hemangioblastoma
cerebellar hypoplasia-tapetoretinal degeneration syndrome
cerebellar malformation
cerebellar neoplasm
cerebellar-facial-dental syndrome
cerebral amyloid angiopathy
cerebral amyloid angiopathy, APP-related
cerebral arterial disease
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
cerebral cavernous malformation
cerebral cavernous malformation 2
cerebral cavernous malformation 3
cerebral cortex disease
cerebral cortical dysplasia
cerebral creatine deficiency syndrome
cerebral degeneration
cerebral disease with cataract
cerebral diseases of vascular origin with epilepsy
cerebral folate deficiency
cerebral lipidosis with dementia
cerebral malformation
cerebral malformation due to abnormal neuronal migration
cerebral malformation with epilepsy
cerebral organic aciduria
cerebral palsy
cerebral palsy, spastic quadriplegic, 1
cerebral palsy, spastic quadriplegic, 2
cerebral palsy, spastic quadriplegic, 3
cerebral ventricle cancer
cerebrocostomandibular syndrome
cerebrofaciothoracic dysplasia
cerebrooculofacioskeletal syndrome 1
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 3
cerebrooculofacioskeletal syndrome 4
cerebroretinal microangiopathy with calcifications and cysts 1
cerebroretinal microangiopathy with calcifications and cysts 2;
cerebrotendinous xanthomatosis
cerebrovascular dementia
cerebrovascular disorder
cervical cancer
cervical carcinoma
cervix disease
channelopathy
channelopathy with epilepsy
channelopathy-associated congenital insensitivity to pain, autosomal recessive
charcot-marie-tooth disease, axonal, type 2DD
cherubism
chilblain lupus
chilblain lupus 1
chilblain lupus 2
child syndrome
childhood absence epilepsy
childhood apraxia of speech
childhood brain stem glioma
childhood brain stem neoplasm
childhood electroclinical syndrome
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
childhood hypophosphatasia
childhood infratentorial neoplasm
childhood kidney Wilms tumor
childhood kidney neoplasm
childhood malignant kidney neoplasm
childhood malignant neoplasm
childhood myelodysplastic syndrome
childhood neoplasm
childhood onset GLUT1 deficiency syndrome 2
childhood onset epileptic encephalopathy
childhood-onset autosomal recessive myopathy with external ophthalmoplegia
childhood-onset epilepsy syndrome
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
childhood-onset nemaline myopathy
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
cholangiocarcinoma
cholangitis
cholecystitis
cholelithiasis
cholestasis
cholestasis, intrahepatic, of pregnancy 3
cholestasis, intrahepatic, of pregnancy, 1
cholestasis, progressive familial intrahepatic, 4
cholestasis, progressive familial intrahepatic, 5
cholesterol biosynthetic process disease
cholesterol catabolic process disease
cholesterol metabolism disease
cholesterol-ester transfer protein deficiency
cholesteryl ester storage disease
chondrocalcinosis
chondrodysplasia
chondrodysplasia Blomstrand type
chondrodysplasia punctata
chondrodysplasia with joint dislocations, gPAPP type
chondrosarcoma (disease)
chordoma (disease)
chorea
chorea, childhood-onset, with psychomotor retardation
chorea-acanthocytosis
choreatic disease
chorioretinitis (disease)
choroid plexus cancer
choroid plexus carcinoma
choroid plexus neoplasm
choroid plexus papilloma
choroidal dystrophy, central areolar 2
choroidal dystrophy, central areolar, 1
choroidal sclerosis
choroideremia
chromophobe renal cell carcinoma
chromosomal anomaly
chromosomal anomaly with cataract
chromosomal anomaly with epilepsy as a major feature
chromosomal disease with overgrowth
chromosome 10q23 deletion syndrome
chromosome 13q14 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 16p11.2 duplication syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 16p13.3 duplication syndrome
chromosome 17P13.3, telomeric, duplication syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 17q12 deletion syndrome
chromosome 17q12 duplication syndrome
chromosome 18q deletion syndrome
chromosome 1p32-p31 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 22q11.2 deletion syndrome, distal
chromosome 22q11.2 microduplication syndrome
chromosome 2P16.3 deletion syndrome
chromosome 2q32-q33 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome X structural anomaly
chromosome Y structural anomaly
chronic Epstein-Barr virus infection syndrome
chronic acquired demyelinating polyneuropathy
chronic atrial and intestinal dysrhythmia
chronic cutaneous lupus erythematosus
chronic diarrheal disease
chronic gastritis (disease)
chronic granulomatous disease
chronic hepatic porphyria
chronic inflammatory demyelinating polyneuropathy
chronic intestinal pseudoobstruction
chronic leukemia
chronic mucocutaneous candidiasis (disease)
chronic myelogenous leukemia, BCR-ABL1 positive
chronic myelomonocytic leukemia
chronic obstructive pulmonary disease
chronic otitis media
chronic pancreatitis
chronic periodontitis
chronic polyneuropathy
chronic polyradiculoneuropathy
chronic primary adrenal insufficiency
chronic progressive multiple sclerosis
chronic pulmonary heart disease
chronic rhinosinusitis
chylomicron retention disease
ciliary dyskinesia, primary, 36, X-linked
ciliary dyskinesia, primary, 37
ciliary dyskinesia, primary, 38
ciliopathy
circadian rhythm sleep disorder
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
cirrhosis of liver
citrin deficiency
citrullinemia
citrullinemia type I
citrullinemia type II
citrullinemia, type II, adult-onset
classic Hodgkin lymphoma
classic complement early component deficiency
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
classic familial adenomatous polyposis
classic galactosemia
classic homocystinuria
classic lissencephaly
classic or attenuated familial adenomatous polyposis
classic organic aciduria
classic progressive supranuclear palsy syndrome
clear cell adenocarcinoma
clear cell renal carcinoma
cleft lip (disease)
cleft lip and alveolus
cleft lip with or without cleft palate
cleft lip/palate
cleft lip/palate-ectodermal dysplasia syndrome
cleft palate
cleft palate with or without ankyloglossia, X-linked
cleft soft palate
cleidocranial dysplasia
cleidocranial dysplasia and isolated cranial ossification defect
clubfoot
coagulation protein disease
cobblestone lissencephaly
cobblestone lissencephaly without muscular or ocular involvement
cocoon syndrome
coenzyme Q10 deficiency
coenzyme Q10 deficiency, primary, 1
coenzyme Q10 deficiency, primary, 3
cognitive disorder
cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
cognitive impairment with or without cerebellar ataxia
colchicine resistance
cold-induced sweating syndrome
cold-induced sweating syndrome - hyperthermia spectrum
cold-induced sweating syndrome 2
cold-induced sweating syndrome 3
colitis (disease)
collagenopathy
collagenopathy type 2 alpha 1
coloboma
coloboma of iris (disease)
coloboma of optic disc
coloboma of optic nerve (disease)
coloboma, ocular, autosomal dominant
coloboma, ocular, autosomal recessive
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
colobomatous and areolar dystrophy
colobomatous microphthalmia
colobomatous microphthalmia-rhizomelic dysplasia syndrome
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
colon adenocarcinoma
colon adenoma
colon carcinoma
colonic disease
colonic neoplasm
color vision disorder
colorblindness, partial
colorectal adenocarcinoma
colorectal adenoma
colorectal cancer
colorectal cancer, hereditary nonpolyposis, type 2
colorectal cancer, hereditary nonpolyposis, type 4
colorectal cancer, hereditary nonpolyposis, type 5
colorectal cancer, hereditary nonpolyposis, type 6
colorectal cancer, hereditary nonpolyposis, type 7
colorectal cancer, hereditary nonpolyposis, type 8
colorectal cancer, susceptibility to, 1
colorectal cancer, susceptibility to, 10
colorectal cancer, susceptibility to, 12
colorectal cancer, susceptibility to, 3
colorectal carcinoma
colorectal neoplasm
combined deficiency of factor V and factor VIII
combined dystonia
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
combined immunodeficiency due to CD3gamma deficiency
combined immunodeficiency due to CRAC channel dysfunction
combined immunodeficiency due to DOCK8 deficiency
combined immunodeficiency due to GINS1 deficiency
combined immunodeficiency due to LRBA deficiency
combined immunodeficiency due to MALT1 deficiency
combined immunodeficiency due to ORAI1 deficiency
combined immunodeficiency due to OX40 deficiency
combined immunodeficiency due to STIM1 deficiency
combined immunodeficiency due to STK4 deficiency
combined immunodeficiency due to ZAP70 deficiency
combined immunodeficiency due to moesin deficiency
combined immunodeficiency due to partial RAG1 deficiency
combined immunodeficiency with skin granulomas
combined immunodeficiency, X-linked
combined malonic and methylmalonic acidemia
combined oxidative phosphorylation defect type 11
combined oxidative phosphorylation defect type 13
combined oxidative phosphorylation defect type 14
combined oxidative phosphorylation defect type 15
combined oxidative phosphorylation defect type 17
combined oxidative phosphorylation defect type 2
combined oxidative phosphorylation defect type 20
combined oxidative phosphorylation defect type 21
combined oxidative phosphorylation defect type 23
combined oxidative phosphorylation defect type 24
combined oxidative phosphorylation defect type 25
combined oxidative phosphorylation defect type 26
combined oxidative phosphorylation defect type 27
combined oxidative phosphorylation defect type 30
combined oxidative phosphorylation defect type 4
combined oxidative phosphorylation defect type 7
combined oxidative phosphorylation defect type 8
combined oxidative phosphorylation defect type 9
combined oxidative phosphorylation deficiency
combined oxidative phosphorylation deficiency 19
combined oxidative phosphorylation deficiency 22
combined oxidative phosphorylation deficiency 29
combined oxidative phosphorylation deficiency 32
combined oxidative phosphorylation deficiency 33
combined oxidative phosphorylation deficiency 34
combined oxidative phosphorylation deficiency 35
combined oxidative phosphorylation deficiency 36
combined pituitary hormone deficiencies, genetic form
common cystic lymphatic malformation
common variable immunodeficiency
communicating hydrocephalus
communication disorder
complement component 2 deficiency
complement component 3 deficiency
complement component 4a deficiency
complement component 5 deficiency
complement component 6 deficiency
complement component 7 deficiency
complement component 9 deficiency
complement component C1s deficiency
complement deficiency
complement factor H deficiency
complement factor I deficiency
complement factor b deficiency
complete androgen insensitivity syndrome
complete hydatidiform mole
complex chromosomal rearrangement
complex cortical dysplasia with other brain malformations
complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
complex cortical dysplasia with other brain malformations 7
complex hereditary spastic paraplegia
complex lethal osteochondrodysplasia
complex neurodevelopmental disorder
complex vascular malformation with associated anomalies
conduction system disorder
cone dystrophy
cone dystrophy 3
cone dystrophy 4
cone dystrophy with supernormal rod response
cone-rod dystrophy
cone-rod dystrophy 10
cone-rod dystrophy 11
cone-rod dystrophy 12
cone-rod dystrophy 13
cone-rod dystrophy 15
cone-rod dystrophy 16
cone-rod dystrophy 18
cone-rod dystrophy 19
cone-rod dystrophy 2
cone-rod dystrophy 20
cone-rod dystrophy 21
cone-rod dystrophy 3
cone-rod dystrophy 5
cone-rod dystrophy 6
cone-rod dystrophy 7
cone-rod dystrophy 9
cone-rod dystrophy and hearing loss
cone-rod synaptic disorder, congenital nonprogressive
congenital T-cell immunodeficiency
congenital abnormality
congenital adrenal hyperplasia
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
congenital adrenal insufficiency
congenital afibrinogenemia
congenital alacrima
congenital alveolar capillary dysplasia
congenital amegakaryocytic thrombocytopenia
congenital analbuminemia
congenital and infantile nephrotic syndrome
congenital anemia
congenital anomalies of kidney and urinary tract 1, susceptibility to
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital anomalies of kidney and urinary tract type 2
congenital anomaly of cardiovascular system
congenital anomaly of kidney and urinary tract
congenital anomaly of the great arteries
congenital anomaly of the great veins
congenital aortic valve stenosis
congenital bilateral absence of vas deferens
congenital bilateral aplasia of vas deferens from CFTR mutation
congenital bile acid synthesis defect
congenital bile acid synthesis defect 1
congenital bile acid synthesis defect 2
congenital bile acid synthesis defect 3
congenital bile acid synthesis defect 4
congenital bile acid synthesis defect 5
congenital bile acid synthesis defect 6
congenital brain dysgenesis due to glutamine synthetase deficiency
congenital cataract-hearing loss-severe developmental delay syndrome
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
congenital cataracts-facial dysmorphism-neuropathy syndrome
congenital central hypoventilation syndrome
congenital combined immunodeficiency
congenital contractural arachnodactyly
congenital contractures of the limbs and face, hypotonia, and developmental delay
congenital cornea plana
congenital deficiency in alpha-fetoprotein
congenital deformities of limbs
congenital diaphragmatic hernia
congenital diarrhea
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 6
congenital diarrhea 7 with exudative enteropathy
congenital disorder of glycosylation
congenital disorder of glycosylation type 1C
congenital disorder of glycosylation type 1E
congenital disorder of glycosylation type I
congenital disorder of glycosylation type II
congenital disorder of glycosylation with cardiac malformation as a major feature
congenital disorder of glycosylation with deafness as a major feature
congenital disorder of glycosylation with defective fucosylation
congenital disorder of glycosylation with developmental anomaly
congenital disorder of glycosylation with dilated cardiomyopathy
congenital disorder of glycosylation with epilepsy as a major feature
congenital disorder of glycosylation with hepatic involvement
congenital disorder of glycosylation with intestinal involvement
congenital disorder of glycosylation with nephropathy as a major feature
congenital disorder of glycosylation with neurological involvement
congenital disorder of glycosylation with skin involvement
congenital disorder of glycosylation, type IAA
congenital disorder of glycosylation, type IIq
congenital disorder of glycosylation-related bone disorder
congenital dyserythropoietic anemia
congenital dyserythropoietic anemia type 1
congenital dyserythropoietic anemia type 2
congenital dyserythropoietic anemia type 4
congenital dyserythropoietic anemia type type 1B
congenital ectropion
congenital enteropathy due to enteropeptidase deficiency
congenital enteropathy involving intestinal mucosa development
congenital entropion
congenital factor V deficiency
congenital factor VII deficiency
congenital factor X deficiency
congenital factor XI deficiency
congenital factor XII deficiency
congenital factor XIII deficiency
congenital fiber-type disproportion
congenital fiber-type disproportion myopathy
congenital fibrinogen deficiency
congenital fibrosarcoma
congenital fibrosis of extraocular muscles
congenital fibrosis of extraocular muscles type 1
congenital generalized lipodystrophy (disease)
congenital generalized lipodystrophy type 1
congenital generalized lipodystrophy type 2
congenital generalized lipodystrophy type 3
congenital generalized lipodystrophy type 4
congenital glaucoma
congenital heart defects and ectodermal dysplasia
congenital heart defects and skeletal malformations syndrome
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, multiple types
congenital heart defects, multiple types, 2
congenital heart defects, multiple types, 4
congenital heart defects, multiple types, 5
congenital heart disease
congenital heart malformation
congenital hematological disorder
congenital hereditary endothelial dystrophy of cornea
congenital hereditary facial paralysis-variable hearing loss syndrome
congenital high-molecular-weight kininogen deficiency
congenital hydrocephalus
congenital hydronephrosis
congenital hypogonadotropic hypogonadism
congenital hypothyroidism
congenital hypothyroidism due to developmental anomaly
congenital hypotrichosis with juvenile macular dystrophy
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
congenital insensitivity to pain-hypohidrosis syndrome
congenital intestinal disease due to an enzymatic defect
congenital intestinal transport defect
congenital intrinsic factor deficiency
congenital isolated adrenocorticotropic hormone deficiency (disease)
congenital isolated hyperinsulinism
congenital lactase deficiency
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
congenital laryngomalacia
congenital left-sided heart lesions
congenital limb malformation
congenital lipoid adrenal hyperplasia due to STAR deficency
congenital macroglossia
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital mitral malformation
congenital mitral valve insufficiency and/or stenosis
congenital multicore myopathy with external ophthalmoplegia
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
congenital muscular dystrophy
congenital muscular dystrophy due to LMNA mutation
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy with cataracts and intellectual disability
congenital muscular dystrophy with cerebellar involvement
congenital muscular dystrophy with intellectual disability and severe epilepsy
congenital muscular dystrophy without intellectual disability
congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
congenital myasthenic syndrome
congenital myasthenic syndrome 10
congenital myasthenic syndrome 11
congenital myasthenic syndrome 12
congenital myasthenic syndrome 13
congenital myasthenic syndrome 14
congenital myasthenic syndrome 15
congenital myasthenic syndrome 16
congenital myasthenic syndrome 17
congenital myasthenic syndrome 18
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 2C
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 3B
congenital myasthenic syndrome 3C
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C
congenital myasthenic syndrome 5
congenital myasthenic syndrome 6
congenital myasthenic syndrome 7
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
congenital myasthenic syndrome with tubular aggregates
congenital myasthenic syndromes with glycosylation defect
congenital myopathy
congenital myopathy with cores
congenital myopathy with internal nuclei and atypical cores
congenital myotonia
congenital nemaline myopathy
congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome
congenital nephrotic syndrome, Finnish type
congenital nervous system disorder
congenital neuronal ceroid lipofuscinosis
congenital neutropenia-myelofibrosis-nephromegaly syndrome
congenital non-bullous ichthyosiform erythroderma
congenital nongoitrous hypothryoidism 6
congenital nonspherocytic hemolytic anemia
congenital nystagmus
congenital plasminogen activator inhibitor type 1 deficiency
congenital polycystic liver disease
congenital primary aphakia
congenital prothrombin deficiency
congenital ptosis (disease)
congenital pulmonary valve stenosis
congenital pulmonary veins anomaly
congenital pulmonary venous return anomaly
congenital reticular ichthyosiform erythroderma
congenital secondary polycythemia
congenital secretory chloride diarrhea 1
congenital secretory diarrhea
congenital secretory sodium diarrhea 8
congenital short bowel syndrome
congenital short bowel syndrome 1
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
congenital sodium diarrhea
congenital stationary night blindness
congenital stationary night blindness 1A
congenital stationary night blindness 1B
congenital stationary night blindness 1C
congenital stationary night blindness 1D
congenital stationary night blindness 1E
congenital stationary night blindness 1F
congenital stationary night blindness 1G
congenital stationary night blindness 1H
congenital stationary night blindness 2A
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital stromal corneal dystrophy
congenital structural myopathy
congenital sucrase-isomaltase deficiency
congenital thrombotic thrombocytopenic purpura
congenital thyroid malformation without hypothyroidism
congenital total pulmonary venous return anomaly
congenital tricuspid malformation
congenital urachal anomaly
congenital valvular dysplasia
congenital vascular bone syndrome
congenital velopharyngeal incompetence
congenital vertical talus
congenital vitamin K-dependent coagulation factors combined deficiency
congenital vitamin K-dependent coagulation factors deficiency
congenital vitreoretinal dysplasia
congenitally corrected transposition of the great arteries
congestive heart failure
conjunctival disorder
conjunctival lymphangiectasia
conjunctival telangiectasia (disease)
conjunctival tumor
conjunctival vascular anomaly
conjunctival vascular disease
connective and soft tissue neoplasm
connective tissue cancer
connective tissue disease
connective tissue disease with eye involvement
connective tissue disorder due to lysyl hydroxylase-3 deficiency
connective tissue neoplasm
conotruncal heart malformations
constipation disorder
constitutional anemia due to iron metabolism disorder
constitutional dyserythropoietic anemia
constitutional hemolytic anemia due to acanthocytosis
constitutional hemolytic anemia due to membrane defect
constitutional megaloblastic anemia due to folate metabolism disorder
constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
constitutional megaloblastic anemia with severe neurologic disease
constitutional mismatch repair deficiency syndrome
constitutional neutropenia
constitutional neutropenia with extra-hematopoietic manifestations
constitutional sideroblastic anemia
continuous spikes and waves during sleep
contracture
conventional fibrosarcoma
conventional osteosarcoma
cor pulmonale
cor triatriatum dexter (disease)
cornea plana
cornea plana 2
corneal disease
corneal dystrophy (disease)
corneal dystrophy, Fuchs endothelial, 1
corneal dystrophy, Fuchs endothelial, 3
corneal dystrophy, Fuchs endothelial, 4
corneal dystrophy, Fuchs endothelial, 6
corneal dystrophy, Fuchs endothelial, 8
corneal dystrophy, lattice type 3A
corneal dystrophy, posterior polymorphous, 4
corneal dystrophy-perceptive deafness syndrome
corneal endothelial dystrophy
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
corneogoniodysgenesis
corneoiridogoniodysgenesis
coronary artery disease
coronary artery disease, autosomal dominant 2
coronary artery disease, autosomal dominant, 1
coronary heart disease, susceptibility to, 2
coronary heart disease, susceptibility to, 5
coronary heart disease, susceptibility to, 6
coronary heart disease, susceptibility to, 7
corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
corpus callosum, agenesis of
corpus uteri neoplasm
cortical cataract
cortical dysplasia-focal epilepsy syndrome
cortical senile cataract
corticobasal syndrome
corticosteroid-binding globulin deficiency
corticosterone methyloxidase type 1 deficiency
corticosterone methyloxidase type 2 deficiency
cortisone reductase deficiency
cortisone reductase deficiency 1
cortisone reductase deficiency 2
coumarin resistance
coxopodopatellar syndrome
cranial malformation
cranial nerve and nuclear aplasia
cranial nerve neoplasm
cranial nerve neuropathy
cranial nerve palsy
cranio-osteoarthropathy
craniodiaphyseal dysplasia
craniodiaphyseal dysplasia, autosomal dominant
cranioectodermal dysplasia
cranioectodermal dysplasia 1
cranioectodermal dysplasia 2
cranioectodermal dysplasia 3
cranioectodermal dysplasia 4
craniofacial anomalies and anterior segment dysgenesis syndrome
craniofacial anomaly with cataract
craniofacial dysplasia - osteopenia syndrome
craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
craniofacial-deafness-hand syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
craniometadiaphyseal dysplasia, wormian bone type
craniometaphyseal dysplasia
craniometaphyseal dysplasia, autosomal dominant
craniometaphyseal dysplasia, autosomal recessive
craniopharyngioma
craniostenosis associated with a strabismus
craniosynostosis
craniosynostosis 1
craniosynostosis 3
craniosynostosis 4
craniosynostosis 5, susceptibility to
craniosynostosis 6
craniosynostosis 7
craniosynostosis and dental anomalies
craniosynostosis syndrome, autosomal recessive
craniosynostosis, Boston type
creatine biosynthetic process disease
creatine phosphokinase, elevated serum
creatine transporter deficiency
crescentic glomerulonephritis (disease)
cryopyrin-associated periodic syndrome
cryptophthalmia
cryptorchidism (disease)
cryptosporidiosis-chronic cholangitis-liver disease syndrome
curry-Jones syndrome
cutaneous lupus erythematosus
cutaneous mastocytosis
cutaneous melanoma (disease)
cutaneous mycosis
cutaneous polyarteritis nodosa
cutaneous porphyria
cutis laxa
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
cutis laxa, autosomal dominant 1
cutis laxa, autosomal dominant 2
cutis laxa, autosomal dominant 3
cutis laxa, autosomal recessive, type 1A
cutis laxa, autosomal recessive, type 1B
cyanosis, transient neonatal
cyclic hematopoiesis
cyclic vomiting syndrome
cystadenocarcinoma
cystathioninuria (disease)
cystic fibrosis
cystic hygroma
cystic kidney disease
cystic leukoencephalopathy without megalencephaly
cystic malformation of the posterior fossa
cystic neoplasm
cystinosis
cystinosis, nephropathic
cystinuria (disease)
cystoid macular edema
cytochrome-c oxidase deficiency disease
d-2-hydroxyglutaric aciduria 2
d-bifunctional protein deficiency
de Barsy syndrome
de Sanctis-Cacchione syndrome
deafness dystonia syndrome
deafness with labyrinthine aplasia, microtia, and microdontia
deafness, X-linked 1
deafness, X-linked 4
deafness, X-linked 6
deafness, autosomal dominant 34, with or without inflammation
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
deafness, autosomal dominant 71
deafness, autosomal dominant 72
deafness, autosomal dominant 73
deafness, autosomal dominant 74
deafness, autosomal recessive 106
deafness, autosomal recessive 107
deafness, autosomal recessive 108
deafness, autosomal recessive 109
deafness, autosomal recessive 110
deafness, autosomal recessive 111
deafness, autosomal recessive 57
deafness, congenital heart defects, and posterior embryotoxon
deafness, unilateral
deafness-enamel hypoplasia-nail defects syndrome
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
deafness-infertility syndrome
deafness-intellectual disability, Martin-Probst type syndrome
deafness-lymphedema-leukemia syndrome
deafness-onychodystrophy syndrome
defect in V-ATPase
defect in conserved oligomeric Golgi complex
defective phagocytic cell engulfment
deficiency anemia
deficient breast volume or number
degeneration of macula and posterior pole
degenerative disorder
dehydratase deficiency
dehydrated hereditary stomatocytosis
dehydrated hereditary stomatocytosis 2
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
dementia
demyelinating disease
demyelinating hereditary motor and sensory neuropathy
dense deposit disease
dense granule disease
dental caries
dental enamel hypoplasia
dentatorubral-pallidoluysian atrophy
dentin dysplasia
dentin dysplasia type II
dentinogenesis imperfecta (disease)
dentinogenesis imperfecta type 2
dentinogenesis imperfecta type 3
dentocutaneous disease with cataract
depressive disorder
dermatitis
dermatofibrosarcoma protuberans
dermatomyositis
dermatopathia pigmentosa reticularis
dermatophytosis
dermis disease
dermis elastic tissue disorder
dermis tumor
desmoid tumor
desmoplastic small round cell tumor
desmoplastic/nodular medulloblastoma
desmosterolosis
developmental and speech delay due to SOX5 deficiency
developmental anomaly of metabolic origin
developmental defect during embryogenesis
developmental defect of the eye
developmental delay and seizures with or without movement abnormalities
developmental delay with autism spectrum disorder and gait instability
developmental delay, intellectual disability, obesity, and dysmorphic features
developmental disorder of mental health
developmental dysplasia of the hip
developmental malformations-deafness-dystonia syndrome
dextro-looped transposition of the great arteries
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
dextrocardia (disease)
diabetes insipidus
diabetes insipidus, nephrogenic, X-linked
diabetes insipidus, nephrogenic, autosomal
diabetes mellitus (disease)
diabetes mellitus, noninsulin-dependent
diabetes mellitus, noninsulin-dependent, 5
diabetes mellitus, transient neonatal, 1
diabetes mellitus, transient neonatal, 2
diabetes mellitus, transient neonatal, 3
diamond-blackfan anemia 16
diamond-blackfan anemia 17
diaphanospondylodysostosis
diaphragm disease
diaphragmatic eventration (disease)
diaphragmatic hernia 3
diaphragmatic hernia, congenital 1
diaphragmatic or abdominal wall malformation
diaphyseal medullary stenosis-bone malignancy syndrome
diarrhea-vomiting due to trehalase deficiency
diarrheal disease
diastrophic dysplasia
diazoxide-resistant focal hyperinsulinism
diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
diazoxide-resistant hyperinsulinism
diazoxide-sensitive diffuse hyperinsulinism
dicarboxylic aminoaciduria
diencephalic cancer
differentiated thyroid carcinoma
diffuse astrocytoma
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
diffuse gastric adenocarcinoma
diffuse intrinsic pontine glioma
diffuse palmoplantar keratoderma
diffuse palmoplantar keratoderma with painful fissures
diffuse type adenocarcinoma
digestive system adenoma
digestive system cancer
digestive system carcinoma
digestive system disease
digestive system infectious disease
digestive system neoplasm
digestive system neuroendocrine neoplasm
digestive system neuroendocrine tumor, grade 1/2
digestive tract malformation
digitotalar dysmorphism
dihydropteridine reductase deficiency
dihydropyrimidine dehydrogenase deficiency
dihydropyrimidinuria
dilated cardiomyopathy
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1BB
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1EE
dilated cardiomyopathy 1FF
dilated cardiomyopathy 1G
dilated cardiomyopathy 1GG
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1I
dilated cardiomyopathy 1II
dilated cardiomyopathy 1J
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1L
dilated cardiomyopathy 1M
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1O
dilated cardiomyopathy 1P
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1T
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V