ClinVar Miner

Variants by Mondo condition

ClinVar version:
Total Mondo conditions: 10892
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Mondo condition
12p12.1 microdeletion syndrome
14q11.2 microduplication syndrome
15q overgrowth syndrome
15q11q13 microduplication syndrome
15q14 microdeletion syndrome
16p11.2p12.2 microduplication syndrome
16p13.11 microdeletion syndrome
16p13.11 microduplication syndrome
16q24.3 microdeletion syndrome
17,20-lyase deficiency, isolated
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
17q11.2 microduplication syndrome
19p13.3 microduplication syndrome
2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11.2 deletion syndrome
2q23.1 microdeletion syndrome
2q24 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 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria, type VIIA
3-methylglutaconic aciduria, type VIIB
3-phosphoglycerate dehydrogenase deficiency
3M syndrome 1
3M syndrome 2
3M syndrome 3
3MC syndrome
3MC syndrome 1
3MC syndrome 2
3MC syndrome 3
3p- syndrome
3q26 microduplication syndrome
46 XX gonadal dysgenesis
46,XX disorder of sex development
46,XX ovarian dysgenesis-short stature syndrome
46,XX sex reversal 1
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 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 testicular 17,20-desmolase deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY ovotesticular disorder of sex development
46,XY partial gonadal dysgenesis
46,XY sex reversal 1
46,XY sex reversal 10
46,XY sex reversal 11
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
46,xx sex reversal 5
4p16.3 microduplication syndrome
5-oxoprolinase deficiency
5q14.3 microdeletion syndrome
5q35 microduplication syndrome
6q terminal deletion syndrome
7p22.1 microduplication syndrome
7q11.23 microduplication syndrome
8p inverted duplication/deletion syndrome
8p23.1 duplication syndrome
8q24.3 microdeletion syndrome
A20 haploinsufficiency
ABCA4-related retinopathy
ABCD syndrome
ABeta amyloidosis, Arctic type
ABeta amyloidosis, Iowa type
ABeta amyloidosis, Italian type
ABeta amyloidosis, dutch type
ABetaA21G amyloidosis
ABetaL34V amyloidosis
ABri amyloidosis
ACCES syndrome
ACTB-associated syndromic thrombocytopenia
ACTH-dependent Cushing syndrome
ACTH-independent Cushing syndrome
ACTH-independent adrenal Cushing syndrome, somatic
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
ACTL6A-related BAFopathy
ACys amyloidosis
ADAM9-related retinopathy
ADAR-related type 1 interferonopathy
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
ADULT syndrome
ADan amyloidosis
AFib amyloidosis
AGAT deficiency
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AIPL1-related retinopathy
AL amyloidosis
ALDH18A1-related de Barsy syndrome
ALG1-congenital disorder of glycosylation
ALG11-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
ALG2-congenital disorder of glycosylation
ALG3-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
ALG8-congenital disorder of glycosylation
ALG9-congenital disorder of glycosylation
ALS2-related motor neuron disease
AMED syndrome, digenic
ANE syndrome
AP-4 deficiency syndrome
ASAH1-related disorders
ASAH1-related sphingolipidosis
ATF6-related retinopathy
ATP1A3-associated neurological disorder
ATP6AP2-related disorder
ATR-X-related syndrome
ATTRV122I amyloidosis
ATTRV30M amyloidosis
AXIN2-related attenuated familial adenomatous polyposis
Aagenaes syndrome
Aarskog-Scott syndrome, X-linked
Abruzzo-Erickson syndrome
Acrodysostosis 1 with or without hormone resistance
Acromicric dysplasia
Acroosteolysis dominant type
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
Aicardi syndrome
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
Aicardi-Goutieres syndrome 8
Aicardi-Goutieres syndrome 9
Al Kaissi syndrome
Al-Gazali 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
Alfadhel syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Alport syndrome
Alport syndrome 3b, autosomal recessive
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Alstrom syndrome
Alzahrani-Kuwahara syndrome
Alzheimer disease
Alzheimer disease 18
Alzheimer disease 19
Alzheimer disease 2
Alzheimer disease 3
Alzheimer disease 4
Alzheimer disease 6
Alzheimer disease 9
Alzheimer disease type 1
Amish lethal microcephaly
Andersen-Tawil syndrome
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
Angelman syndrome
Antley-Bixler syndrome
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Apert syndrome
Armfield syndrome
Arts syndrome
Asperger syndrome, X-linked, susceptibility to, 2
Asperger syndrome, susceptibility to
Atelis syndrome
Atelis syndrome 1
Atelis syndrome 2
Au-Kline syndrome
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
Ayme-Gripp syndrome
B cell deficiency
B-cell chronic lymphocytic leukemia
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
B-cell neoplasm
B-cell non-Hodgkin lymphoma
B-lymphoblastic leukemia/lymphoma with hypodiploidy
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
B4GALT1-congenital disorder of glycosylation
BAP1-related tumor predisposition syndrome
BBS10-related ciliopathy
BBS9-related ciliopathy
BDV syndrome
BENTA disease
BEST1-related dominant retinopathy
BEST1-related recessive retinopathy
BEST1-related vitreoretinochoroidopathy
BH4-deficient hyperphenylalaninemia A
BNAR syndrome
BRESEK syndrome
Bailey-Bloch congenital myopathy
Baller-Gerold syndrome
Balo concentric sclerosis
Bamforth-Lazarus syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Baraitser-Winter syndrome 1
Baraitser-winter syndrome 2
Baralle-Macken syndrome
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 22
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
Barrett esophagus
Bart-Pumphrey syndrome
Barth syndrome
Bartsocas-Papas syndrome 1
Bartsocas-Papas syndrome 2
Bartter disease type 1
Bartter disease type 2
Bartter disease type 3
Bartter disease type 4A
Bartter disease type 4B
Bartter disease type 5
Bartter syndrome
Bartter syndrome type 4
Bartter syndrome with hypocalcemia
Basilicata-Akhtar syndrome
Batten-Turner congenital myopathy
Beare-Stevenson cutis gyrata syndrome
Beck-Fahrner syndrome
Becker muscular dystrophy
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beemer-Langer syndrome
Behcet disease
Behr syndrome
Bell's palsy
Berardinelli-Seip congenital lipodystrophy
Bernard-Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Bethlem myopathy
Bethlem myopathy 1A
Bethlem myopathy 1B
Bethlem myopathy 1C
Bethlem myopathy 2
Bietti crystalline corneoretinal dystrophy
Birbeck granule deficiency
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1
Bjornstad syndrome
Blau syndrome
Bloom syndrome
Bockenheimer syndrome
Bohring-Opitz syndrome
Boomerang dysplasia
Borjeson-Forssman-Lehmann syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bosley-Salih-Alorainy syndrome
Bothnia retinal dystrophy
Boudin-Mortier syndrome
Bowen-Conradi syndrome
Braddock-Carey syndrome
Brody myopathy
Brooke-Spiegler syndrome
Brown 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
Brunet-Wagner neurodevelopmental syndrome
Brunner syndrome
Bruton-type agammaglobulinemia
Bryant-Li-Bhoj neurodevelopmental syndrome
Bryant-Li-Bhoj neurodevelopmental syndrome 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2
Budd-Chiari syndrome
Buratti-Harel syndrome
Burkitt lymphoma
Buruli ulcer, susceptibility to
Buschke-Ollendorff syndrome
C syndrome
C1 inhibitor deficiency
C1Q deficiency
C1Q deficiency 1
C1Q deficiency 2
C1Q deficiency 3
C3 glomerulonephritis
CACNA1A-related complex neurodevelopmental disorder
CACNA1F-related retinopathy
CACNA2D4-related retinopathy
CAMOS syndrome
CAPN5-related vitreoretinopathy
CARASIL syndrome
CBL-related disorder
CDH1-related diffuse gastric and lobular breast cancer syndrome
CDKL5 disorder
CEBALID syndrome
CEDNIK syndrome
CEP290-related ciliopathy
CERKL-related retinopathy
CHAND syndrome
CHARGE syndrome
CHILD syndrome
CHIME syndrome
CIDEC-related familial partial lipodystrophy
CINCA syndrome
CK syndrome
CLAPO syndrome
CLOVES syndrome
CNGA1-related retinopathy
CNGA3-related retinopathy
CNGB1-related retinopathy
CNGB3-related retinopathy
CNS demyelinating autoimmune disease
COACH syndrome
COACH syndrome 1
COACH syndrome 2
COACH syndrome 3
CODAS syndrome
COFS syndrome
COG1-congenital disorder of glycosylation
COG4-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
COG6-ongenital disorder of glycosylation
COG7-congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
COL4A1-related disorder
COPD, severe early onset
COVID-19–associated multisystem inflammatory syndrome in children
CPOX-related hereditary coproporphyria
CTSC-related disorder
CYP1B1-related glaucoma with or without anterior segment dysgenesis
Caffey disease
Camptosynpolydactyly, complex
Camurati-Engelmann disease
Canavan disease
Carey-Fineman-Ziter syndrome
Carey-Fineman-Ziter syndrome 1
Carey-Fineman-Ziter syndrome 2
Carney complex
Carney complex - trismus - pseudocamptodactyly syndrome
Carney complex, type 1
Carney triad
Carney-Stratakis syndrome
Caroli disease
Carpenter syndrome
Castleman-Kojima disease
Catel-Manzke syndrome
Catifa syndrome
Cayman type cerebellar ataxia
Cenani-Lenz syndactyly syndrome
Cernunnos-XLF deficiency
Char syndrome
Charcot-Marie-Tooth Disease, axonal, type 2GG
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 B
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
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 5
Charcot-Marie-Tooth disease type X
Charcot-Marie-Tooth disease, axonal, IIa 2II
Charcot-Marie-Tooth disease, axonal, Type 2HH
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2FF
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Charcot-Marie-Tooth disease, demyelinating, type 1G
Charcot-Marie-Tooth disease, demyelinating, type 1J
Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Charlevoix-Saguenay spastic ataxia
Charlie M syndrome
Chediak-Higashi syndrome
Chiari malformation
Chilton-Okur-Chung neurodevelopmental syndrome
Chitayat syndrome
Chopra-Amiel-Gordon syndrome
Christianson syndrome
Chudley-McCullough syndrome
Chuvash polycythemia
Clark-Baraitser syndrome
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 10
Coffin-Siris syndrome 11
Coffin-Siris syndrome 12
Coffin-Siris syndrome 5
Coffin-Siris syndrome 6
Coffin-Siris syndrome 7
Coffin-Siris syndrome 8
Cohen syndrome
Cohen-Gibson syndrome
Cold-induced sweating syndrome 1
Cole-Carpenter syndrome
Cole-Carpenter syndrome 1
Cole-Carpenter syndrome 2
Compton-North congenital myopathy
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
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
Cornelia de Lange syndrome 6
Costello syndrome
Cowden disease
Cowden syndrome 1
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
Crohn disease
Cronkhite-Canada syndrome
Crouzon syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Currarino triad
Curry-Jones syndrome
Cushing disease due to pituitary adenoma
Cushing syndrome
Cushing syndrome due to macronodular adrenal hyperplasia
D,L-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 1
D-glyceric aciduria
DDOST-congenital disorder of glycosylation
DDX41-related hematologic malignancy predisposition syndrome
DEGCAGS syndrome
DEND syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
DICER1-related tumor predisposition
DK1-congenital disorder of glycosylation
DKC1-related disorder
DNA ligase IV deficiency
DNA repair disease
DOCK2 deficiency
DOORS syndrome
DPAGT1-congenital disorder of glycosylation
DPH5-related diphthamide-deficiency syndrome
DPM3-congenital disorder of glycosylation
DYRK1A-related intellectual disability syndrome
Dandy-Walker syndrome
Danon disease
Darier disease
DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
DeSanto-Shinawi syndrome
DeSanto-Shinawi syndrome due to WAC point mutation
Delpire-McNeill syndrome
Dent disease
Dent disease type 1
Dent disease type 2
Dentici-Novelli neurodevelopmental syndrome
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 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 21
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
Diets-Jongmans syndrome
Donnai-Barrow syndrome
Donohue syndrome
Dorfman-Chanarin disease
Dowling-Degos disease
Dowling-Degos disease 1
Dowling-Degos disease 2
Dowling-Degos disease 4
Down syndrome
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 muscular dystrophy
Dworschak-Punetha neurodevelopmental syndrome
Dyggve-Melchior-Clausen disease
EAST syndrome
EDICT syndrome
EEC syndrome
EEM syndrome
ELOVL4-related maculopathy
EMILIN-1-related connective tissue disease
EPHB4-associated vascular malformation spectrum
EYS-related retinopathy
Ebstein anomaly
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, classic-like, 2
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Ehlers-Danlos syndrome, kyphoscoliotic type 1
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, spondylocheirodysplastic type
Ehlers-Danlos syndrome, spondylodysplastic type
Ehlers-Danlos syndrome, spondylodysplastic type, 1
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos/osteogenesis imperfecta syndrome
Eiken syndrome
Ellis-van Creveld syndrome
Elsahy-Waters syndrome
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked
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 6, X-linked
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
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
FG syndrome
FG syndrome 1
FG syndrome 2
FG syndrome 4
FGFR3-related chondrodysplasia
FHL1-related myopathy
FLVCR1-related retinopathy with or without ataxia
FOXC1-related anterior segment dysgenesis
FOXG1 disorder
FRAXE intellectual disability
Fabry disease
Fanconi anemia
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group I
Fanconi anemia complementation group J
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 R
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fanconi anemia, complementation group S
Fanconi anemia, complementation group W
Fanconi renotubular syndrome
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Fanconi renotubular syndrome 5
Farber lipogranulomatosis
Faundes-Banka syndrome
Feingold syndrome
Feingold syndrome type 1
Feingold syndrome type 2
Ferguson-Bonni neurodevelopmental syndrome
Filippi syndrome
Fine-Lubinsky syndrome
Finnish type amyloidosis
Finnish upper limb-onset distal myopathy
Fliedner-Zweier syndrome
Floating-Harbor syndrome
Fontaine progeroid syndrome
Fowler syndrome
Frank-Ter Haar syndrome
Fraser syndrome
Fraser syndrome 1
Fraser syndrome 2
Fraser syndrome 3
Frasier syndrome
Freeman-Sheldon syndrome
Friedreich ataxia
Friedreich ataxia 1
Friedreich ataxia with retained reflexes
Fuchs' endothelial dystrophy
Fuhrmann syndrome
G6PD deficiency
GABA aminotransaminase deficiency
GAPO syndrome
GATA1-Related X-Linked Cytopenia
GATA2 deficiency with susceptibility to MDS/AML
GATA5-related congenital heart defects
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
GCGR-related hyperglucagonemia
GLUT1 deficiency syndrome
GM1 gangliosidosis
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM2 gangliosidosis
GM3 synthase deficiency
GNAT2-related retinopathy
GNE myopathy
GPR143-related foveal hypoplasia
GPR179-related retinopathy
GRACILE syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
GRM6-related retinopathy
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GTP cyclohydrolase I deficiency
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GUCY2D retinopathy
GUCY2D-related dominant retinopathy
GUCY2D-related recessive retinopathy
GYG1-related disorder of glycogen metabolism
Gabriele de Vries syndrome
Galloway-Mowat syndrome
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 10
Galloway-Mowat syndrome 2, X-linked
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
Galloway-Mowat syndrome 5
Galloway-Mowat syndrome 6
Galloway-Mowat syndrome 7
Galloway-Mowat syndrome 8
Galloway-Mowat syndrome 9
Gamstorp-Wohlfart syndrome
Gardner syndrome
Garg-Mishra progeroid syndrome
Gaucher disease
Gaucher disease due to saposin C deficiency
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gerstmann-Straussler-Scheinker syndrome
Gilbert syndrome
Gillessen-Kaesbach-Nishimura syndrome
Gitelman syndrome
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 2
Goldberg-Shprintzen syndrome
Goldmann-Favre syndrome
Gollop-Wolfgang complex
Gordon syndrome
Gorham-Stout disease
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Guillain-Barre syndrome
Guillain-Barre syndrome, familial
Guttmacher syndrome
H syndrome
HELIX syndrome
HER2 positive breast carcinoma
HSD10 disease, atypical type
HSD10 mitochondrial disease
HTRA1-related autosomal dominant cerebral small vessel disease
Haddad syndrome
Hailey-Hailey disease
Haim-Munk syndrome
Hao-Fountain syndrome
Hao-Fountain syndrome due to USP7 mutation
Harel-Yoon syndrome
Hartnup disease
Hartsfield-Bixler-Demyer syndrome
Hashimoto thyroiditis
Heinz body anemia
Helicobacter pylori infection, susceptibility to
Hengel-Maroofian-Schols syndrome
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 11
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
Heyn-Sproul-Jackson syndrome
Hiatt-Neu-Cooper neurodevelopmental syndrome
Hirschsprung disease
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Hirschsprung disease, susceptibility to
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
Hogue-Janssens syndrome 1
Holt-Oram syndrome
Houge-Janssens syndrome
Houge-Janssens syndrome 2
Houge-Janssens syndrome 3
Hoxha-Aliu syndrome
Hoyeraal-Hreidarsson syndrome
Hunter-McAlpine craniosynostosis
Huntington disease
Huntington disease and related disorders
Huntington disease-like 1
Huntington disease-like 2
Huntington disease-like syndrome
Huppke-Brendel syndrome
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
IDH3B-related retinopathy
IFAP syndrome
IFAP syndrome 1, with or without BRESHECK syndrome
IFAP syndrome 2
IFIH1-related type 1 interferonopathy
IFT140-related recessive ciliopathy
IKBKG-related immunodeficiency with or without ectodermal dysplasia
IL21-related infantile inflammatory bowel disease
IMAGe syndrome
IMPG2-related dominant retinopathy
IMPG2-related recessive retinopathy
IRIDA syndrome
ITM2B amyloidosis
IVIC syndrome
IgA glomerulonephritis
IgA nephropathy, susceptibility to
IgA nephropathy, susceptibility to, 1
IgA nephropathy, susceptibility to, 3
IgE responsiveness, atopic
Imagawa-Matsumoto syndrome
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 2
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
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 19
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 29
Joubert syndrome 3
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35
Joubert syndrome 36
Joubert syndrome 37
Joubert syndrome 38
Joubert syndrome 39
Joubert syndrome 40
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 ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juberg-Hayward syndrome
KAT6B-related multiple congenital anomalies syndrome
KBG syndrome
KCNH1 associated disorder
KID syndrome
KIF1A related neurological disorder
KIF7-related ciliopathy
KINSSHIP syndrome
KIZ-related retinopathy
Kabuki syndrome
Kabuki syndrome 1
Kabuki syndrome 2
Kahrizi syndrome
Kallmann syndrome
Kaposi sarcoma, susceptibility to
Kaposi's sarcoma
Kapur-Toriello syndrome
Kaya-Barakat-Masson syndrome
Kearns-Sayre syndrome
Keipert syndrome
Kennedy disease
Kenny-Caffey syndrome
Keppen-Lubinsky syndrome
Keutel syndrome
Khan-Khan-Katsanis syndrome
Kilquist syndrome
Kindler syndrome
King-Denborough syndrome
Kleefstra syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Kleefstra syndrome due to a point mutation
Kleine-Levin syndrome
Klinefelter syndrome
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
Knobloch syndrome 1
Knobloch syndrome 2
Kohlschutter-Tonz syndrome-like
Koolen-de Vries syndrome
Kostmann syndrome
Krabbe disease
Krabbe disease due to saposin A deficiency
Kufor-Rakeb syndrome
Kury-Isidor syndrome
L-2-hydroxyglutaric aciduria
L-ferritin deficiency
L1 syndrome
LADD syndrome
LADD syndrome 1
LAMA2-related muscular dystrophy
LAMB2-related infantile-onset nephrotic syndrome
LCA5-related retinopathy
LCAT deficiency
LEOPARD syndrome 1
LEOPARD syndrome 2
LEOPARD syndrome 3
LIPE-related familial partial lipodystrophy
LRP5-related exudative vitreoretinopathy
LRP5-related primary osteoporosis
LTBP2-related ocular dysgenesis
Lafora disease
Lamb-Shaffer syndrome
Landau-Kleffner syndrome
Langer mesomelic dysplasia
Laron syndrome
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 hereditary optic neuropathy, autosomal recessive
Leber optic atrophy and dystonia
Leber optic atrophy, susceptibility to
Leber plus disease
Leber-like hereditary optic neuropathy, autosomal recessive 1
Leber-like hereditary optic neuropathy, autosomal recessive 2
Legg-Calve-Perthes disease
Legius syndrome
Leigh syndrome
Lennox-Gastaut syndrome
Lenz-Majewski hyperostotic dwarfism
Leri pleonosteosis
Leri-Weill dyschondrosteosis
Lesch-Nyhan syndrome
Lessel-Kreienkamp syndrome
Lewy body dementia
Leydig cell hypoplasia
Leydig cell hypoplasia, type 1
Lhermitte-Duclos disease
Li-Campeau syndrome
Li-Fraumeni syndrome
Li-Ghorbani-Weisz-Hubshman syndrome
Li-fraumeni-like syndrome
Liang-Wang syndrome
Liberfarb syndrome
Lichtenstein-Knorr syndrome
Liddle syndrome
Liddle syndrome 1
Liddle syndrome 2
Liddle syndrome 3
Lisch epithelial corneal dystrophy
Loeys-Dietz syndrome
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 4
Loeys-Dietz syndrome 6
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
Lowry-Wood syndrome
Lui-Jee-Baron syndrome
Luo-Schoch-Yamamoto syndrome
Luscan-Lumish syndrome
Lynch syndrome
Lynch syndrome 1
Lynch syndrome 2
Lynch syndrome 4
Lynch syndrome 5
Lynch syndrome 8
MAK-related retinopathy
MALT lymphoma
MAN1B1-congenital disorder of glycosylation
MASA syndrome
MASS syndrome
MECOM-associated syndrome
MED12-related intellectual disability syndrome
MEDNIK syndrome
MEGF10-related myopathy
MEGF8-related Carpenter syndrome
MEHMO syndrome
MELAS syndrome
MEND syndrome
MERRF syndrome
MERTK-related retinopathy
MGAT2-congenital disorder of glycosylation
MHC class I deficiency
MHC class II deficiency
MIRAGE syndrome
MIT family translocation renal cell carcinoma
MME-related autosomal dominant Charcot Marie Tooth disease type 2
MOGS-congenital disorder of glycosylation
MORM syndrome
MPDU1-congenital disorder of glycosylation
MPI-congenital disorder of glycosylation
MRCS syndrome
MYH7-related skeletal myopathy
MYPN-related myopathy
Machado-Joseph disease
Madras motor neuron disease
Maffucci syndrome
Majeed syndrome
Malan overgrowth syndrome
Marbach-Rustad progeroid syndrome
Marbach-Schaaf neurodevelopmental syndrome
Marden-Walker syndrome
Marfan and Marfan-related disorder
Marfan syndrome
Marie Unna hereditary hypotrichosis
Marinesco-Sjogren syndrome
Marshall syndrome
Marshall-Smith syndrome
Martsolf syndrome
Martsolf syndrome 1
Martsolf syndrome 2
Matthew-Wood syndrome
Mauriac syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome type 1
Mayer-Rokitansky-Küster-Hauser syndrome type 2
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
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
Mendelian encephalopathy
Mendelian neurodevelopmental disorder
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Meniere disease
Menke-Hennekam syndrome
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
Menkes disease
Miller-Dieker lissencephaly syndrome
Mitchell 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
Muckle-Wells syndrome
Muenke syndrome
Muir-Torre syndrome
Mullegama-Klein-Martinez syndrome
Mungan syndrome
Myhre syndrome
N-acetylaspartate deficiency
NAA10-related syndrome
NAD(P)HX dehydratase deficiency
NARP syndrome
NDE1-related microhydranencephaly
NEK9-related lethal skeletal dysplasia
NIK deficiency
NK-cell enteropathy
NMNAT1-related retinopathy
NOG-related symphalangism spectrum disorder
NPHP3-related Meckel-like syndrome
NYX-related retinopathy
Naegeli-Franceschetti-Jadassohn syndrome
Nager acrofacial dysostosis
Nance-Horan syndrome
Naxos disease
Nestor-Guillermo progeria syndrome
Netherton syndrome
Neu-Laxova syndrome
Neu-Laxova syndrome 1
Neu-Laxova syndrome 2
Newfoundland cone-rod dystrophy
Nezelof syndrome
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
Nizon-Isidor syndrome
Noonan syndrome
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 11
Noonan syndrome 13
Noonan syndrome 14
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 loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 1
Noonan syndrome-like disorder with loose anagen hair 2
Norman-Roberts syndrome
Norrie disease
North Carolina macular dystrophy
Norum disease
O'Donnell-Luria-Rodan syndrome
OPA1-related optic atrophy with or without extraocular features
OPTN-related open angle glaucoma
Ochoa syndrome
Ogden syndrome
Oguchi disease
Oguchi disease-1
Oguchi disease-2
Ohdo syndrome and variants
Okt4 epitope deficiency
Okur-Chung neurodevelopmental syndrome
Ollier disease
Olmsted syndrome
Olmsted syndrome 1
Olmsted syndrome 2
Olmsted syndrome, X-linked
Omenn syndrome
Opitz G/BBB syndrome
P5CS deficiency
PAX6-related ocular dysgenesis
PBRM1-related BAFopathy
PCARE-related retinopathy
PCWH syndrome
PDE6A-related retinopathy
PEHO syndrome
PEHO-like syndrome
PERCHING syndrome
PGM1-congenital disorder of glycosylation
PHACE syndrome
PHARC syndrome
PHGDH deficiency
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PLA2G6-associated neurodegeneration
PLIN1-related familial partial lipodystrophy
PMM2-congenital disorder of glycosylation
PMP22-RAI1 contiguous gene duplication syndrome
PPARG-related familial partial lipodystrophy
PRKAG2-related cardiomyopathy
PRPF31-related retinopathy
PRPF8-related retinopathy
PSAP-related sphingolipidosis
PSAT deficiency
PSPH deficiency
PTEN hamartoma tumor syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
PYCR1-related de Barsy syndrome
Paganini-Miozzo syndrome
Paget disease of bone 2, early-onset
Paget disease of bone 3
Paget disease of bone 6
Pallister-Hall syndrome
Papillon-Lefevre disease
Paris-Trousseau thrombocytopenia
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 24, autosomal dominant, susceptibility to
Parkinson disease 5, autosomal dominant, susceptibility to
Parkinson disease, mitochondrial
Partington syndrome
Patterson-Stevenson-Fontaine syndrome
Pearson syndrome
Pelger-Huet anomaly
Pelger-Huet-like anomaly and episodic fever with abdominal pain
Pelizaeus-Merzbacher-like disease
Pelizeaus-Merzbacher spectrum disorder
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
Peters plus syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 3
Phelan-McDermid syndrome
Pick disease
Pierpont syndrome
Pierson syndrome
Pilarowski-Bjornsson syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome
Pitt-Hopkins-like syndrome 2
Poirier-Bienvenu neurodevelopmental syndrome
Poland syndrome
Polymerase proofreading-related adenomatous polyposis
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Prader-Willi syndrome
Prader-Willi-like syndrome
Prieto syndrome
Primrose syndrome
Proteus syndrome
Proteus-like syndrome
Protrusio acetabuli
Pseudofolliculitis barbae
Pyle disease
Quebec platelet disorder
RAB18 deficiency
RAB23-related Carpenter syndrome
RAB28-related retinopathy
RCBTB1-related retinopathy
RD3-related retinopathy
RDH12-related recessive retinopathy
RDH5-related retinopathy
RECON progeroid syndrome
RFT1-congenital disorder of glycosylation
RHYNS syndrome
RIDDLE syndrome
RIN2 syndrome
RLBP1-related retinopathy
RNASEH2A-related type 1 interferonopathy
RNASEH2B-related type 1 interferonopathy
RNASEH2C-related type 1 interferonopathy
RNU7-1-related type 1 interferonopathy
RP2-related retinopathy
RPE65-related dominant retinopathy
RPE65-related recessive retinopathy
RPGR-related retinopathy
RYR1-related myopathy
Rabin-Pappas syndrome
Rabson-Mendenhall syndrome
Radio-Tartaglia syndrome
Rafiq syndrome
Rahman syndrome
Rajab interstitial lung disease with brain calcifications
Rajab interstitial lung disease with brain calcifications 1
Rajab interstitial lung disease with brain calcifications 2
Rapp-Hodgkin syndrome
Rauch-Steindl syndrome
Reis-Bucklers corneal dystrophy
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
Ritscher-Schinzel syndrome 3
Ritscher-Schinzel syndrome 4
Roberts-SC phocomelia syndrome
Robinow syndrome
Robinow-Sorauf syndrome
Roifman syndrome
Rothmund-Thomson syndrome
Rothmund-Thomson syndrome type 1
Rothmund-Thomson syndrome type 2
Rotor syndrome
Roussy-Levy syndrome
Rubinstein Taybi like syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
SAMHD1-related type 1 interferonopathy
SATB2 associated disorder
SCN4A-related channelopathy
SCN4A-related myopathy, autosomal recessive
SEC61A1 deficiency
SELENON-related myopathy
SERAC1-related neurological disorder
SERKAL syndrome
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
SF3B4-related acrofacial dysostosis
SHORT syndrome
SHOX-related short stature
SIN3A-related intellectual disability syndrome
SIN3A-related intellectual disability syndrome due to a point mutation
SLC35A1-congenital disorder of glycosylation
SLC35A2-congenital disorder of glycosylation
SLC6A3-related dopamine transporter deficiency syndrome
SMARCB1-deficient kidney medullary carcinoma
SMARCC1-associated developmental dysgenesis syndrome
SNRNP200-related dominant retinopathy
SPAST-related motor disorder
SQSTM1-related multisystem proteinopathy
SRD5A3-congenital disorder of glycosylation
SSR4-congenital disorder of glycosylation
STAT3-related early-onset multisystem autoimmune disease
STING-associated vasculopathy with onset in infancy
STT3A-congenital disorder of glycosylation
STT3B-congenital disorder of glycosylation
SYNCRIP-related neurodevelopmental disorder
SYNGAP1-related developmental and epileptic encephalopathy
Saethre-Chotzen syndrome
Salla disease
Sandhoff disease
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form
SchC6pf-Schulz-Passarge syndrome
Schaaf-Yang syndrome
Scheie syndrome
Scheuermann disease
Schimke immuno-osseous dysplasia
Schinzel-Giedion syndrome
Schmid metaphyseal chondrodysplasia
Schnyder corneal dystrophy
Schuurs-Hoeijmakers syndrome
Schwartz-Jampel syndrome
Schwartz-Jampel syndrome type 1
Scott 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
Sertoli cell-only syndrome
Sezary syndrome
Shashi-Pena syndrome
Sheldon-hall syndrome
Shiga toxin-associated hemolytic uremic syndrome
Short stature, Dauber-Argente type
Shprintzen-Goldberg syndrome
Shukla-Vernon syndrome
Shwachman-Diamond syndrome
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Siddiqi syndrome
Sifrim-Hitz-Weiss syndrome
Silver-Russell syndrome
Silver-Russell syndrome 1
Silver-Russell syndrome 3
Silver-Russell syndrome 5
Silverman-Handmaker type dyssegmental dysplasia
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Singleton-Merten dysplasia
Singleton-Merten syndrome 1
Singleton-Merten syndrome 2
Sjogren-Larsson syndrome
Skraban-Deardorff syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smith-McCort dysplasia
Smith-McCort dysplasia 1
Smith-McCort dysplasia 2
Sneddon syndrome
Snijders Blok-Campeau syndrome
Sorsby fundus dystrophy
Sotos syndrome
Spondyloenchondrodysplasia with immune dysregulation
Sprengel deformity
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 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Stormorken syndrome
Stromme syndrome
Sturge-Weber syndrome
Stuve-Wiedemann syndrome
Stuve-Wiedemann syndrome 2
Stüve-Wiedemann syndrome 1
Suleiman-El-Hattab 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 lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
T-cell non-Hodgkin lymphoma
T-cell prolymphocytic leukemia
T-substance anomaly
TARP syndrome
TCF12-related craniosynostosis
TCR-alpha-beta-positive T-cell deficiency
TEK-related primary glaucoma
TELO2-related intellectual disability-neurodevelopmental disorder
TFRC-related combined immunodeficiency
TH-deficient dopa-responsive dystonia
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
TMEM165-congenital disorder of glycosylation
TOPORS-related retinopathy
TPM2-related myopathy
TPM3-related myopathy
TRAF3 haploinsufficiency
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
TREX1-related type 1 interferonopathy
TRPM1-related retinopathy
TRPV4-related bone disorder
TSPAN12-related exudative vitreoretinopathy
TSPAN12-related vitreoretinopathy
TTN-related myopathy
TUBB2A-related tubulinopathy
TUBB3-related tubulinopathy
TUBB4A-related neurologic disorder
TWIST1-related craniosynostosis
Tan-Almurshedi syndrome
Tangier disease
Tatton-Brown-Rahman overgrowth syndrome
Tay-Sachs disease
Tay-Sachs disease AB variant
Tay-Sachs disease, B1 variant
Teebi hypertelorism syndrome
Teebi hypertelorism syndrome 1
Teebi hypertelorism syndrome 2
Temple-Baraitser syndrome
Tenorio syndrome
Tessadori-Van Haaften neurodevelopmental syndrome 3
Tessadori-Van Haaften neurodevelopmental syndrome 4
Tessadori-Van-Haaften neurodevelopmental syndrome
Tessadori-van Haaften neurodevelopmental syndrome 1
Tessadori-van Haaften neurodevelopmental syndrome 2
Tessier number 4 facial cleft
Thiel-Behnke corneal dystrophy
Thomsen and Becker disease
Tietz syndrome
Timothy syndrome
Timothy syndrome type 1
Timothy syndrome, classic type
Tn polyagglutination syndrome
Tolchin-Le Caignec syndrome
Toriello-Lacassie-Droste syndrome
Tourette syndrome
Townes-Brocks syndrome
Townes-Brocks syndrome 1
Townes-Brocks syndrome 2
Treacher Collins syndrome 1
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Treacher Collins syndrome 4
Treacher-Collins syndrome
Troyer syndrome
Turner syndrome
UROD-related inherited porphyria
UV-induced skin damage, susceptibility to
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 1A
Ullrich congenital muscular dystrophy 1B
Ullrich congenital muscular dystrophy 1C
Ullrich congenital muscular dystrophy 2
Unverricht-Lundborg syndrome
Uruguay Faciocardiomusculoskeletal syndrome
Usher syndrome
Usher syndrome type 1
Usher syndrome type 1B
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
Usher syndrome, type 1M
Usher syndrome, type 4
Usmani-Riazuddin syndrome, autosomal dominant
Usmani-Riazuddin syndrome, autosomal recessive
VACTERL association, X-linked, with or without hydrocephalus
VACTERL with hydrocephalus
VACTERL/vater association
VEXAS syndrome
VISS syndrome
Ververi-Brady syndrome
Vici syndrome
Vissers-Bodmer syndrome
WAGR syndrome
WHIM syndrome
WHIM syndrome 1
WHIM syndrome 2
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 syndrome, IIa 2F
Waardenburg-Shah syndrome
Wagner disease
Waldenstrom macroglobulinemia
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
Webb-Dattani syndrome
Weill-Marchesani 4 syndrome, recessive
Weill-Marchesani syndrome
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 2, dominant
Weill-Marchesani syndrome 3
Werner syndrome
West Nile virus, susceptibility to
West syndrome
White-Kernohan syndrome
Wieacker-Wolff syndrome
Wieacker-Wolff syndrome (spectrum)
Wieacker-Wolff syndrome, female-restricted
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Williams syndrome
Wilms tumor
Wilms tumor 1
Wilms tumor 2
Wilms tumor 5
Wilms tumor 6
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, 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
Wolfram syndrome
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome
Wolman disease
Woodhouse-Sakati syndrome
Worster-Drought syndrome
X inactivation, familial skewed
X inactivation, familial skewed, 1
X-linked Alport syndrome
X-linked Ehlers-Danlos syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked Mendelian susceptibility to mycobacterial diseases
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked Opitz G/BBB syndrome
X-linked acrogigantism due to Xq26 microduplication
X-linked adrenal hypoplasia congenita
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
X-linked central congenital hypothyroidism with late-onset testicular enlargement
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 colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked complex neurodevelopmental disorder
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 deafness
X-linked disease
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 erythropoietic protoporphyria
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked hereditary sensory and autonomic neuropathy with hearing loss
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemic rickets
X-linked ichthyosis syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked intellectual disability
X-linked intellectual disability with hypopituitarism
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-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome
X-linked mixed hearing loss with perilymphatic gusher
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy
X-linked nonsyndromic hearing loss
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 1
X-linked sideroblastic anemia with ataxia
X-linked spasticity-intellectual disability-epilepsy syndrome
X-linked spondyloepimetaphyseal dysplasia
X-linked syndromic intellectual disability
XFE progeroid syndrome
Xq25 microduplication syndrome
Y-linked disease
Yao syndrome
Yoon-Bellen neurodevelopmental syndrome
Yuksel-Vogel-Bauer syndrome
Yunis-Varon syndrome
ZTTK syndrome
Zaki syndrome
Zellweger spectrum disorders
Ziegler-Huang syndrome
Zimmermann-Laband syndrome
Zimmermann-Laband syndrome 1
Zimmermann-Laband syndrome 2
abdominal aortic aneurysm
abdominal obesity-metabolic syndrome
abdominal obesity-metabolic syndrome 3
abdominal obesity-metabolic syndrome 4
abdominal wall malformation
abducens nerve disorder
abducens nerve palsy
ablepharon macrostomia syndrome
abnormal mineralization disorder
absence epilepsy
absence of fingerprints-congenital milia syndrome
acanthosis nigricans
acetazolamide-responsive myotonia
acetyl-CoA acetyltransferase-2 deficiency
acetyl-coa carboxylase deficiency
acetylation, slow
achalasia-alacrima syndrome
achondrogenesis type IA
achondrogenesis type IB
achondrogenesis type II
achromatopsia 2
achromatopsia 3
achromatopsia 4
achromatopsia 5
achromatopsia 6
achromatopsia 7
acid sphingomyelinase deficiency
acidosis disorder
acne inversa, familial, 1
acne inversa, familial, 2
acne inversa, familial, 3
acquired Creutzfeldt-Jakob disease
acquired angioedema
acquired aplastic anemia
acquired idiopathic inflammatory myopathy
acquired lipodystrophy
acquired metabolic disease
acquired motor neuron disease
acquired partial lipodystrophy
acquired peripheral neuropathy
acquired polycythemia vera
acquired skeletal muscle disease
acral peeling skin syndrome
acrocallosal syndrome
acrocapitofemoral dysplasia
acrodermatitis enteropathica
acrodysostosis 2 with or without hormone resistance
acrofacial dysostosis
acrofacial dysostosis Cincinnati type
acrofacial dysostosis, Weyers type
acrokeratosis verruciformis
acroleukopathy, symmetric
acromelic dysplasia
acromelic frontonasal dysostosis
acromesomelic dysplasia
acromesomelic dysplasia 1, Maroteaux type
acromesomelic dysplasia 2A
acromesomelic dysplasia 2B
acromesomelic dysplasia 2C, Hunter-Thompson type
acromesomelic dysplasia 3
acromesomelic dysplasia 4
acroosteolysis-keloid-like lesions-premature aging syndrome
action myoclonus-renal failure syndrome
activated PI3K-delta syndrome
acute coronary syndrome
acute disease
acute erythroid leukemia
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 leukemia
acute leukemia of ambiguous lineage
acute liver failure
acute lymphoblastic leukemia
acute megakaryoblastic leukemia
acute megakaryoblastic leukemia in down syndrome
acute megakaryoblastic leukemia without down syndrome
acute monocytic leukemia
acute myeloblastic leukemia with maturation
acute myeloid leukemia
acute myeloid leukemia by FAB classification
acute myeloid leukemia with multilineage dysplasia
acute myocardial infarction
acute necrotizing encephalopathy of childhood
acute pancreatitis
acute proliferative glomerulonephritis
acute promyelocytic leukemia
acute respiratory distress syndrome
acute respiratory failure
acyl-CoA dehydrogenase 9 deficiency
acyl-CoA dehydrogenase deficiency
adenine phosphoribosyltransferase deficiency
adenocarcinoma in situ
adenocarcinoma of gallbladder and extrahepatic biliary tract
adenoid cystic carcinoma
adenoma of small intestine
adenomatous colon polyp
adenosine kinase 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 disorder
adrenal cortex neoplasm
adrenal gland cancer
adrenal gland disorder
adrenal gland hyperfunction
adrenal gland neoplasm
adrenocortical carcinoma, hereditary
adrenocortical insufficiency
adrenogenital syndrome
adult Refsum disease
adult neuronal ceroid lipofuscinosis
adult polyglucosan body disease
adult spinal cord ependymoma
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
adult-onset foveomacular vitelliform dystrophy
adult-onset proximal spinal muscular atrophy, autosomal dominant
advance sleep phase syndrome, familial, 4
advanced sleep phase syndrome
advanced sleep phase syndrome 1
advanced sleep phase syndrome 2
advanced sleep phase syndrome 3
agammaglobulinemia 10, autosomal dominant
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
agammaglobulinemia 8b, autosomal recessive
agammaglobulinemia 9, autosomal recessive
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, susceptibility to
age-related macular degeneration
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agenesis of the corpus callosum with peripheral neuropathy
aggressive B-cell non-Hodgkin lymphoma
agnathia-otocephaly complex
alacrima, achalasia, and intellectual disability syndrome
alanine glyoxylate aminotransferase deficiency
alcohol dependence
alcohol sensitivity, acute
alcohol-related disorders
aldosterone-producing adenoma with seizures and neurological abnormalities
aldosterone-producing adrenal cortex adenoma
alkaline ceramidase 3 deficiency
alkylglycerone-phosphate synthase deficiency
allergic disease
allergic rhinitis, susceptibility to
alobar holoprosencephaly
alopecia - intellectual disability syndrome
alopecia areata
alopecia areata 1
alopecia areata 2
alopecia totalis
alopecia universalis
alopecia universalis congenita
alopecia, androgenetic, 1
alopecia, isolated
alopecia-intellectual disability syndrome 1
alopecia-intellectual disability syndrome 4
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-methylacyl-CoA racemase deficiency
alpha-thalassemia-myelodysplastic syndrome
alternating hemiplegia
alternating hemiplegia of childhood
alternating hemiplegia of childhood 1
alternating hemiplegia of childhood 2
alveolar capillary dysplasia with misalignment of pulmonary veins
alveolar rhabdomyosarcoma
amegakaryocytic thrombocytopenia, congenital, 2
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, IIa 1K
amelogenesis imperfecta, hypomaturation type, IIa6
amelogenesis imperfecta, type 1J
amelogenesis imperfecta, type 3A
amelogenesis imperfecta, type 3c
amino acid metabolism disease
aminoacylase 1 deficiency
amyloidosis, primary localized cutaneous, 1
amyloidosis, primary localized cutaneous, 2
amyloidosis, primary localized cutaneous, 3
amyotrophic lateral sclerosis
amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
amyotrophic lateral sclerosis 27, juvenile
amyotrophic lateral sclerosis 28
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 10
amyotrophic lateral sclerosis type 11
amyotrophic lateral sclerosis type 12
amyotrophic lateral sclerosis type 15
amyotrophic lateral sclerosis type 16
amyotrophic lateral sclerosis type 18
amyotrophic lateral sclerosis type 19
amyotrophic lateral sclerosis type 2, juvenile
amyotrophic lateral sclerosis type 20
amyotrophic lateral sclerosis type 21
amyotrophic lateral sclerosis type 22
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, 13
amyotrophic lateral sclerosis, susceptibility to, 24
amyotrophic lateral sclerosis, susceptibility to, 25
amyotrophic lateral sclerosis-parkinsonism-dementia complex
amyotrophic neuralgia
anaplastic astrocytoma
anaplastic cancer
anaplastic ependymoma
anaplastic oligodendroglioma
anauxetic dysplasia
anauxetic dysplasia 1
anauxetic dysplasia 2
anauxetic dysplasia 3
androgen insensitivity syndrome
androgenetic alopecia
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
anemia, sideroblastic, 5
anencephaly 1
anencephaly 2
aneurysm, intracranial berry, 12
aneurysm-osteoarthritis syndrome
angioedema, hereditary, 4
angioedema, hereditary, 5
angioedema, hereditary, 6
angioedema, hereditary, 7
angioedema, hereditary, 8
angioimmunoblastic T-cell lymphoma
angiokeratoma corporis diffusum with arteriovenous fistulas
angioosteohypertrophic syndrome
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
aniridia 1
aniridia 2
aniridia 3
aniridia-cerebellar ataxia-intellectual disability syndrome
ankyloblepharon filiforme adnatum-cleft palate syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
annular epidermolytic ichthyosis
anophthalmia/microphthalmia-esophageal atresia syndrome
anorectal malformation
anterior horn disorder
anterior pituitary gland disorder
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
antisocial behavior, susceptibility to
antisynthetase syndrome
anus disorder
anxiety disorder
aorta coarctation
aortic aneurysm
aortic aneurysm, familial abdominal, 1
aortic aneurysm, familial thoracic 1
aortic aneurysm, familial thoracic 10
aortic aneurysm, familial thoracic 11, susceptibility to
aortic aneurysm, familial thoracic 12
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 arch defects
aortic arch interruption
aortic disorder
aortic valve atresia
aortic valve disease 1
aortic valve disease 2
aortic valve disease 3
aortic valve disorder
aortic valve insufficiency
aortic valve stenosis
aplasia cutis congenita
aplasia of lacrimal and salivary glands
aplastic anemia
aplastic anemia, susceptibility to
apocrine sweat gland disorder
apolipoprotein c-III deficiency
apparent mineralocorticoid excess
arachnoid cyst
argininosuccinic aciduria
arhinia, choanal atresia, and microphthalmia
aromatase deficiency
aromatase excess syndrome
aromatic L-amino acid decarboxylase deficiency
arrhinia-choanal atresia-microphthalmia syndrome
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
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 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
arrhythmogenic right ventricular dysplasia, familial, 14
arterial calcification of infancy
arterial calcification, generalized, of infancy, 1
arterial calcification, generalized, of infancy, 2
arterial disorder
arterial tortuosity syndrome
arteriosclerosis disorder
arteriovenous hemangioma/malformation
arteriovenous malformations of the brain
arthritic joint disease
arthritis, sacroiliac
arthrogryposis multiplex congenita
arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
arthrogryposis multiplex congenita 2, neurogenic type
arthrogryposis multiplex congenita 3, myogenic type
arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
arthrogryposis multiplex congenita 5
arthrogryposis multiplex congenita 6
arthrogryposis syndrome
arthrogryposis, Perthes disease, and upward gaze palsy
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
arthrogryposis, distal, IIa 11
arthrogryposis, distal, type 12
arthrogryposis, distal, type 1A
arthrogryposis, distal, type 1B
arthrogryposis, distal, type 1C
arthrogryposis, distal, type 2B2
arthrogryposis, distal, type 2B3
arthrogryposis, distal, type 2B4
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
ascending colon cancer
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
aspiration pneumonitis
asthma, aspirin-induced, susceptibility to
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
astroblastoma, MN1-altered
astrocytic tumor
astrocytoma (excluding glioblastoma)
atactic disorder
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ataxia - oculomotor apraxia type 4
ataxia - telangiectasia variant
ataxia and polyneuropathy, adult-onset
ataxia neuropathy spectrum
ataxia telangiectasia
ataxia with oculomotor apraxia type 3
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ataxia, intention tremor, and hypotonia syndrome, childhood-onset
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
ataxia-hypogonadism-choroidal dystrophy syndrome
ataxia-pancytopenia syndrome
ataxia-telangiectasia-like disorder
ataxia-telangiectasia-like disorder 1
ataxia-telangiectasia-like disorder 2
atelosteogenesis type I
atelosteogenesis type II
atelosteogenesis type III
atherosclerosis susceptibility
atopic eczema
atresia of urethra
atrial conduction disease
atrial fibrillation
atrial fibrillation, familial, 1
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, 16
atrial fibrillation, familial, 17
atrial fibrillation, familial, 18
atrial fibrillation, familial, 3
atrial fibrillation, familial, 4
atrial fibrillation, familial, 6
atrial fibrillation, familial, 7
atrial fibrillation, familial, 8
atrial fibrillation, familial, 9
atrial flutter
atrial septal aneurysm
atrial septal defect
atrial septal defect 1
atrial septal defect 2
atrial septal defect 3
atrial septal defect 4
atrial septal defect 5
atrial septal defect 6
atrial septal defect 7
atrial septal defect 8
atrial septal defect 9
atrial standstill
atrial standstill 1
atrial standstill 2
atrial tachycardia
atrichia with papular lesions
atrioventricular block
atrioventricular dissociation
atrioventricular septal defect
atrioventricular septal defect 4
atrioventricular septal defect 5
atrioventricular septal defect, susceptibility to, 2
atrophoderma vermiculata
atrophy of testis
attention deficit-hyperactivity disorder
attention deficit-hyperactivity disorder 8
attention deficit-hyperactivity disorder, susceptibility to, 7
attenuated familial adenomatous polyposis
atypical Rett syndrome
atypical chronic myeloid leukemia, BCR-ABL1 negative
atypical coarctation of aorta
atypical dentin dysplasia due to SMOC2 deficiency
atypical endometrial hyperplasia
atypical glycine encephalopathy
atypical hemolytic uremic syndrome with complement gene abnormality
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, autosomal dominant 2
auditory neuropathy, autosomal dominant 3
auditory neuropathy-optic atrophy syndrome
auditory system disorder
aural atresia, congenital
auriculocondylar syndrome
auriculocondylar syndrome 1
auriculocondylar syndrome 2
auriculocondylar syndrome 3
auriculocondylar syndrome 4
autism spectrum disorder
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autism spectrum disorder due to AUTS2 deficiency
autism, susceptibility to, 1
autism, susceptibility to, 10
autism, susceptibility to, 15
autism, susceptibility to, 16
autism, susceptibility to, 17
autism, susceptibility to, 19
autism, susceptibility to, 20
autism, susceptibility to, 5
autism, susceptibility to, 9
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
autism, susceptiblity to
autoimmune bullous skin disease
autoimmune disease
autoimmune disease, multisystem, infantile-onset
autoimmune disease, multisystem, infantile-onset, 2
autoimmune disease, multisystem, infantile-onset, 3
autoimmune disease, susceptibility to, 1
autoimmune disease, susceptibility to, 6
autoimmune disorder of blood
autoimmune disorder of cardiovascular system
autoimmune disorder of central nervous system
autoimmune disorder of endocrine system
autoimmune disorder of gastrointestinal tract
autoimmune disorder of musculoskeletal system
autoimmune disorder of peripheral nervous system
autoimmune disorder of the nervous system
autoimmune enteropathy
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
autoimmune hemolytic anemia
autoimmune hypoparathyroidism
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 4
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
autoimmune polyendocrine syndrome type 1
autoimmune polyendocrinopathy
autoimmune pulmonary alveolar proteinosis
autoimmune thrombocytopenia
autoimmune thrombocytopenic purpura
autoimmune thyroid disease
autoimmune thyroid disease, susceptibility to
autoimmune thyroid disease, susceptibility to, 3
autoinflammation with arthritis and dyskeratosis
autoinflammation with episodic fever and lymphadenopathy
autoinflammation with pulmonary and cutaneous vasculitis
autoinflammation, immune dysregulation, and eosinophilia
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
autoinflammatory disease, X-linked
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
autoinflammatory disease, systemic, with vasculitis
autoinflammatory syndrome
autoinflammatory syndrome of childhood
autoinflammatory syndrome with immunodeficiency
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
autoinflammatory syndrome, familial, Behcet-like
autoinflammatory syndrome, familial, Behcet-like 1
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
autonomic nervous system disorder
autonomic nervous system neoplasm
autosomal agammaglobulinemia
autosomal anomaly
autosomal dominant Alport syndrome
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 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 chondrodysplasia punctata
autosomal dominant complex spastic paraplegia
autosomal dominant cutis laxa
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant disease
autosomal dominant distal myopathy
autosomal dominant distal renal tubular acidosis
autosomal dominant epidermolytic ichthyosis
autosomal dominant epilepsy with auditory features
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
autosomal dominant familial periodic fever
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 keratitis
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
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 medullary cystic kidney disease with or without hyperuricemia
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal dominant mitochondrial myopathy with exercise intolerance
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 hearing loss
autosomal dominant nonsyndromic hearing loss 1
autosomal dominant nonsyndromic hearing loss 10
autosomal dominant nonsyndromic hearing loss 11
autosomal dominant nonsyndromic hearing loss 12
autosomal dominant nonsyndromic hearing loss 13
autosomal dominant nonsyndromic hearing loss 15
autosomal dominant nonsyndromic hearing loss 16
autosomal dominant nonsyndromic hearing loss 17
autosomal dominant nonsyndromic hearing loss 20
autosomal dominant nonsyndromic hearing loss 21
autosomal dominant nonsyndromic hearing loss 22
autosomal dominant nonsyndromic hearing loss 23
autosomal dominant nonsyndromic hearing loss 25
autosomal dominant nonsyndromic hearing loss 27
autosomal dominant nonsyndromic hearing loss 28
autosomal dominant nonsyndromic hearing loss 2A
autosomal dominant nonsyndromic hearing loss 2B
autosomal dominant nonsyndromic hearing loss 33
autosomal dominant nonsyndromic hearing loss 36
autosomal dominant nonsyndromic hearing loss 3A
autosomal dominant nonsyndromic hearing loss 3B
autosomal dominant nonsyndromic hearing loss 40
autosomal dominant nonsyndromic hearing loss 41
autosomal dominant nonsyndromic hearing loss 44
autosomal dominant nonsyndromic hearing loss 48
autosomal dominant nonsyndromic hearing loss 4A
autosomal dominant nonsyndromic hearing loss 4B
autosomal dominant nonsyndromic hearing loss 5
autosomal dominant nonsyndromic hearing loss 50
autosomal dominant nonsyndromic hearing loss 51
autosomal dominant nonsyndromic hearing loss 56
autosomal dominant nonsyndromic hearing loss 6
autosomal dominant nonsyndromic hearing loss 64
autosomal dominant nonsyndromic hearing loss 65
autosomal dominant nonsyndromic hearing loss 66
autosomal dominant nonsyndromic hearing loss 67
autosomal dominant nonsyndromic hearing loss 68
autosomal dominant nonsyndromic hearing loss 69
autosomal dominant nonsyndromic hearing loss 7
autosomal dominant nonsyndromic hearing loss 70
autosomal dominant nonsyndromic hearing loss 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 polycystic liver disease
autosomal dominant popliteal pterygium syndrome
autosomal dominant primary microcephaly
autosomal dominant prognathism
autosomal dominant progressive external ophthalmoplegia
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant rhegmatogenous retinal detachment
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 titinopathy
autosomal dominant vibratory urticaria
autosomal dominant vitreoretinochoroidopathy
autosomal dominant wooly hair
autosomal erythropoietic protoporphyria
autosomal genetic disease
autosomal recessive Alport syndrome
autosomal recessive Kenny-Caffey syndrome
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 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 Parkinson disease 14
autosomal recessive Robinow syndrome
autosomal recessive agammaglobulinemia 1
autosomal recessive amelia
autosomal recessive ataxia due to ubiquinone deficiency
autosomal recessive ataxia, Beauce type
autosomal recessive bestrophinopathy
autosomal recessive brachyolmia
autosomal recessive centronuclear myopathy
autosomal recessive cerebellar ataxia
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
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 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 distal renal tubular acidosis
autosomal recessive distal spinal muscular atrophy 1
autosomal recessive distal spinal muscular atrophy 2
autosomal recessive dyskeratosis congenita 4
autosomal recessive early-onset Parkinson disease 23
autosomal recessive early-onset Parkinson disease 6
autosomal recessive early-onset Parkinson disease 7
autosomal recessive familial Mediterranean fever
autosomal recessive hyper-IgE syndrome
autosomal recessive hypohidrotic ectodermal dysplasia
autosomal recessive hypophosphatemic rickets
autosomal recessive inherited pseudoxanthoma elasticum
autosomal recessive intermediate Charcot-Marie-Tooth disease
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 2R1
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 R18
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor 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 hearing loss 101
autosomal recessive nonsyndromic hearing loss 102
autosomal recessive nonsyndromic hearing loss 103
autosomal recessive nonsyndromic hearing loss 104
autosomal recessive nonsyndromic hearing loss 12
autosomal recessive nonsyndromic hearing loss 15
autosomal recessive nonsyndromic hearing loss 16
autosomal recessive nonsyndromic hearing loss 18A
autosomal recessive nonsyndromic hearing loss 18B
autosomal recessive nonsyndromic hearing loss 1A
autosomal recessive nonsyndromic hearing loss 1B
autosomal recessive nonsyndromic hearing loss 2
autosomal recessive nonsyndromic hearing loss 21
autosomal recessive nonsyndromic hearing loss 22
autosomal recessive nonsyndromic hearing loss 23
autosomal recessive nonsyndromic hearing loss 24
autosomal recessive nonsyndromic hearing loss 25
autosomal recessive nonsyndromic hearing loss 26
autosomal recessive nonsyndromic hearing loss 28
autosomal recessive nonsyndromic hearing loss 29
autosomal recessive nonsyndromic hearing loss 3
autosomal recessive nonsyndromic hearing loss 30
autosomal recessive nonsyndromic hearing loss 31
autosomal recessive nonsyndromic hearing loss 32
autosomal recessive nonsyndromic hearing loss 35
autosomal recessive nonsyndromic hearing loss 36
autosomal recessive nonsyndromic hearing loss 37
autosomal recessive nonsyndromic hearing loss 39
autosomal recessive nonsyndromic hearing loss 4
autosomal recessive nonsyndromic hearing loss 42
autosomal recessive nonsyndromic hearing loss 44
autosomal recessive nonsyndromic hearing loss 48
autosomal recessive nonsyndromic hearing loss 49
autosomal recessive nonsyndromic hearing loss 53
autosomal recessive nonsyndromic hearing loss 59
autosomal recessive nonsyndromic hearing loss 6
autosomal recessive nonsyndromic hearing loss 61
autosomal recessive nonsyndromic hearing loss 63
autosomal recessive nonsyndromic hearing loss 66
autosomal recessive nonsyndromic hearing loss 67
autosomal recessive nonsyndromic hearing loss 68
autosomal recessive nonsyndromic hearing loss 7
autosomal recessive nonsyndromic hearing loss 70
autosomal recessive nonsyndromic hearing loss 74
autosomal recessive nonsyndromic hearing loss 76
autosomal recessive nonsyndromic hearing loss 77
autosomal recessive nonsyndromic hearing loss 79
autosomal recessive nonsyndromic hearing loss 8
autosomal recessive nonsyndromic hearing loss 84A
autosomal recessive nonsyndromic hearing loss 84B
autosomal recessive nonsyndromic hearing loss 86
autosomal recessive nonsyndromic hearing loss 88
autosomal recessive nonsyndromic hearing loss 89
autosomal recessive nonsyndromic hearing loss 9
autosomal recessive nonsyndromic hearing loss 91
autosomal recessive nonsyndromic hearing loss 93
autosomal recessive nonsyndromic hearing loss 97
autosomal recessive nonsyndromic hearing loss 98
autosomal recessive ocular albinism
autosomal recessive omodysplasia
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 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 spastic paraplegia type 78
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 recessive titinopathy
autosomal systemic lupus erythematosus type 16
avascular necrosis
avascular necrosis of femoral head, primary, 1
avascular necrosis of femoral head, primary, 2
axial spondylometaphyseal dysplasia
axonal neuropathy
azoospermia, obstructive, with nephrolithiasis
bacteremia, susceptibility
bacteremia, susceptibility to, 1
bacteremia, susceptibility to, 2
bacterial infectious disease
band heterotopia of brain
bardet-biedl syndrome 21
basal cell carcinoma
basal cell carcinoma, susceptibility to
basal cell carcinoma, susceptibility to, 1
basal cell carcinoma, susceptibility to, 7
basal cell neoplasm
basal cell nevus syndrome 1
basal cell nevus syndrome 2
basal ganglia calcification, idiopathic, 1
basal ganglia calcification, idiopathic, 4
basal ganglia calcification, idiopathic, 5
basal ganglia calcification, idiopathic, 6
basal ganglia calcification, idiopathic, 7, autosomal recessive
basal ganglia calcification, idiopathic, 8, autosomal recessive
basal ganglia calcification, idiopathic, childhood-onset
basal ganglia disorder
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 connective and soft tissue neoplasm
benign digestive system neoplasm
benign endocrine neoplasm
benign epithelial neoplasm
benign epithelial skin neoplasm
benign essential blepharospasm
benign eyelid neoplasm
benign familial infantile epilepsy
benign familial neonatal-infantile seizures 1
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 cerebrum
benign neoplasm of corpus uteri
benign neoplasm of eye
benign neoplasm of heart
benign neoplasm of parathyroid gland
benign neoplasm of retina
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
bent bone dysplasia syndrome 1
bent bone dysplasia syndrome 2
beta thalassemia
beta-aminoisobutyric acid, urinary excretion of
beta-ketothiolase deficiency
beta-thalassemia HBB/LCRB
beta-thalassemia and related diseases
beta-thalassemia major
beta-thalassemia-X-linked thrombocytopenia syndrome
beta-ureidopropionase deficiency
bifid nose
bifid nose, autosomal recessive
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 renal agenesis
bilateral striopallidodentate calcinosis
bile acid conjugation defect 1
bile acid malabsorption, primary, 1
bile acid malabsorption, primary, 2
bile duct adenocarcinoma
bile duct cancer
bile duct carcinoma
bile duct disorder
bile duct neoplasm
biliary tract cancer
biliary tract disorder
biliary tract neoplasm
biliary, renal, neurologic, and skeletal syndrome
bilirubin metabolism disease
biotin metabolic disease
biotin-responsive basal ganglia disease
biotinidase deficiency
bipolar disorder
bladder diverticulum
bladder exstrophy
bladder exstrophy-epispadias-cloacal extrophy complex
bladder transitional cell carcinoma
bleeding disorder, platelet-type, 13, susceptibility to
bleeding disorder, platelet-type, 21
bleeding disorder, platelet-type, 22
bleeding disorder, platelet-type, 24
bleeding disorder, platelet-type, 25
bleeding disorder, vascular-type
blepharocheilodontic syndrome
blepharocheilodontic syndrome 1
blepharocheilodontic syndrome 2
blepharophimosis - intellectual disability syndrome
blepharophimosis - intellectual disability syndrome, MKB type
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharophimosis-impaired intellectual development syndrome
blindness (disorder)
blistering, acantholytic, of oral and laryngeal mucosa
blood coagulation disease
blood platelet 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 disorder
bone fragility with contractures, arterial rupture, and deafness
bone inflammation disease
bone marrow cancer
bone marrow disorder
bone marrow failure and diabetes mellitus syndrome
bone marrow failure syndrome
bone marrow failure syndrome 3
bone marrow failure syndrome 4
bone marrow failure syndrome 5
bone marrow failure syndrome 6
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 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-elbow wrist dysplasia syndrome
brachydactyly-syndactyly syndrome
brachydactyly-syndactyly-oligodactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
braddock-carey syndrome 2
brain abnormalities, neurodegeneration, and dysosteosclerosis
brain aneurysm
brain cancer
brain disorder
brain dopamine-serotonin vesicular transport disease
brain glioma
brain hemangioma
brain ischemia
brain malformations with or without urinary tract defects
brain neoplasm
brain small vessel disease 1 with or without ocular anomalies
brain small vessel disease 3
brain stem glioma
brain-lung-thyroid syndrome
brainstem cancer
brainstem neoplasm
branched-chain keto acid dehydrogenase kinase deficiency
branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
branchial arch disease
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 carcinoma in situ
breast disorder
breast ductal adenocarcinoma
breast intraductal proliferative lesion
breast lobular carcinoma
breast neoplasm
breast-ovarian cancer, familial, susceptibility to
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
breast-ovarian cancer, familial, susceptibility to, 5
breasts and/or nipples, aplasia or hypoplasia of, 2
brittle cornea syndrome
brittle cornea syndrome 1
brittle cornea syndrome 2
bronchial disorder
bronchiectasis with or without elevated sweat chloride 1
bronchiectasis with or without elevated sweat chloride 2
bronchiectasis with or without elevated sweat chloride 3
bronchogenic cyst
bronchopulmonary dysplasia
brown-Vialetto-van Laere syndrome 2
bulbospinal muscular atrophy
butterfly-shaped pigment dystrophy
butyrylcholinesterase deficiency
cafe au lait spots, multiple
calcium metabolic disease
calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
calvarial doughnut lesions-bone fragility syndrome
campomelic dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
cancer or benign tumor
cancer-related condition
candidiasis, familial, 4
candidiasis, familial, 6
candidiasis, familial, 8
candidiasis, familial, 9
cap myopathy
capillary disorder
capillary hemangioma
capillary infantile hemangioma
capillary leak syndrome
capillary malformation
capillary malformation-arteriovenous malformation 1
capillary malformation-arteriovenous malformation 2
capillary malformation-arteriovenous malformation syndrome
carbamoyl phosphate synthetase I deficiency disease
carbohydrate metabolism disease
carbohydrate transport disease
carboxypeptidase N deficiency
carcinoid tumor
carcinoma of duodenum
carcinoma of esophagus
carcinoma of gallbladder and extrahepatic biliary tract
carcinoma of liver and intrahepatic biliary tract
carcinoma of pharynx
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiac arrest
cardiac arrhythmia, ankyrin-B-related
cardiac conduction defect
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
cardiac rhabdomyoma
cardiac rhythm disease
cardiac valvular defect
cardiac valvular defect, developmental
cardiac valvular dysplasia 2
cardiac valvular dysplasia, X-linked
cardiac ventricle disorder
cardiac, facial, and digital anomalies with developmental delay
cardiac-urogenital syndrome
cardioacrofacial dysplasia
cardioacrofacial dysplasia 1
cardioacrofacial dysplasia 2
cardioectodermal 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
cardiofacioneurodevelopmental syndrome
cardiogenetic disease
cardiomyopathy, dilated, 100
cardiomyopathy, dilated, 1LL
cardiomyopathy, dilated, 1MM
cardiomyopathy, dilated, 2D
cardiomyopathy, dilated, 2E
cardiomyopathy, dilated, 2F
cardiomyopathy, dilated, 2G
cardiomyopathy, dilated, 2H
cardiomyopathy, dilated, 2I
cardiomyopathy, dilated, 2c
cardiomyopathy, dilated, 2j
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
cardiomyopathy, familial hypertrophic 27
cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
cardiomyopathy, familial hypertrophic, 28
cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
cardiomyopathy, familial hypertrophic, 30, atrial
cardiomyopathy, familial hypertrophic, 4, susceptibility to
cardiomyopathy, familial restrictive, 1
cardiomyopathy, familial restrictive, 3
cardiomyopathy, familial restrictive, 5
cardiomyopathy, familial restrictive, 6
cardiomyopathy, infantile hypertrophic
cardiomyopathy-hypotonia-lactic acidosis syndrome
cardiospondylocarpofacial syndrome
cardiovascular cancer
cardiovascular disorder
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 disorder
carotid artery dissection
carotid artery occlusion
carotid body paraganglioma
carotid stenosis
carpal tunnel syndrome
carpal tunnel syndrome 1
carpal tunnel syndrome 2
cartilage-hair hypoplasia
cat-eye syndrome
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 2, 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 48
cataract 49
cataract 5 multiple types
cataract 50 with or without glaucoma
cataract 6 multiple types
cataract 9 multiple types
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
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
caudal duplication
caudal regression sequence
caudal regression-sirenomelia spectrum
cavernous hemangioma
cavernous sinus meningioma
cecal disorder
celiac disease, susceptibility to, 3
celiac disease, susceptibility to, 4
centra precocious puberty 1
central areolar choroidal dystrophy
central centrifugal cicatricial alopecia
central congenital hypothyroidism
central core myopathy
central diabetes insipidus
central hypoventilation syndrome, congenital
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
central hypoventilation syndrome, congenital, 3
central nervous system cancer
central nervous system disorder
central nervous system hemangioma
central nervous system infectious disorder
central nervous system lipoma
central nervous system malformation
central nervous system neoplasm
central nervous system organ benign neoplasm
central nervous system sarcoma
central precocious puberty
central sleep apnea syndrome
centronuclear myopathy
cerebellar ataxia
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
cerebellar ataxia, brain abnormalities, and cardiac conduction defects
cerebellar ataxia, intellectual disability, and dysequilibrium
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
cerebellar ataxia-hypogonadism syndrome
cerebellar atrophy with seizures and variable developmental delay
cerebellar atrophy, developmental delay, and seizures
cerebellar atrophy, visual impairment, and psychomotor retardation;
cerebellar degeneration
cerebellar disorder
cerebellar dysfunction with variable cognitive and behavioral abnormalities
cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
cerebellar hemangioblastoma
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
cerebellar hypoplasia-tapetoretinal degeneration syndrome
cerebellar neoplasm
cerebellar, ocular, craniofacial, and genital syndrome
cerebellar-facial-dental syndrome
cerebelloparenchymal disorder
cerebral amyloid angiopathy
cerebral amyloid angiopathy, APP-related
cerebral arterial disease
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
cerebral cavernous malformation
cerebral cavernous malformation 1
cerebral cavernous malformation 2
cerebral cavernous malformation 3
cerebral cavernous malformation 4
cerebral cortex disorder
cerebral cortical dysplasia
cerebral creatine deficiency syndrome
cerebral degeneration
cerebral hemangioma
cerebral hemisphere lipoma
cerebral lipidosis with dementia
cerebral palsy
cerebral palsy, spastic quadriplegic, 2
cerebral palsy, spastic quadriplegic, 3
cerebral ventricle cancer
cerebrocostomandibular syndrome
cerebrofacial arteriovenous metameric syndrome
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
cerebroretinal microangiopathy with calcifications and cysts 3
cerebrotendinous xanthomatosis
cerebrovascular disorder
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
ceroid lipofuscinosis, neuronal, 6A
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
cervical cancer
cervix disorder
channelopathy-associated congenital insensitivity to pain, autosomal recessive
charcot-marie-tooth disease, axonal, type 2DD
chilblain lupus
chilblain lupus 1
chilblain lupus 2
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 epilepsy with centrotemporal spikes
childhood infratentorial neoplasm
childhood malignant neoplasm
childhood neoplasm
childhood onset GLUT1 deficiency syndrome 2
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
childhood-onset schizophrenia
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
cholestasis, intrahepatic, of pregnancy, 1
cholestasis, intrahepatic, of pregnancy, 3
cholestasis, progressive familial intrahepatic, 10
cholestasis, progressive familial intrahepatic, 11
cholestasis, progressive familial intrahepatic, 12
cholestasis, progressive familial intrahepatic, 4
cholestasis, progressive familial intrahepatic, 5
cholestasis, progressive familial intrahepatic, 6
cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
cholestasis, progressive familial intrahepatic, 8
cholestasis, progressive familial intrahepatic, 9
cholestasis-pigmentary retinopathy-cleft palate syndrome
cholesteatoma of middle ear
cholesterol biosynthetic process disease
cholesterol catabolic process disease
cholesterol metabolism disease
cholesterol-ester transfer protein deficiency
cholesteryl ester storage disease
chondrocalcinosis 2
chondrodysplasia Blomstrand type
chondrodysplasia punctata
chondrodysplasia punctata, brachytelephalangic, autosomal
chondrodysplasia with joint dislocations, gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
chorea, childhood-onset, with psychomotor retardation
choreatic disease
choroid cancer
choroid neoplasm
choroid plexus cancer
choroid plexus carcinoma
choroid plexus neoplasm
choroid plexus papilloma
choroidal dystrophy, central areolar 2
choroidal dystrophy, central areolar, 1
choroidal neovascularization
chromophobe renal cell carcinoma
chromosomal disorder
chromosome 1 disorder
chromosome 10 disorder
chromosome 10q23 deletion syndrome
chromosome 11 disorder
chromosome 11q trisomy
chromosome 12 disorder
chromosome 12p deletion
chromosome 13 disorder
chromosome 13q14 deletion syndrome
chromosome 13q33-q34 deletion syndrome
chromosome 14 disorder
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16 disorder
chromosome 16 trisomy
chromosome 16p11.2 duplication syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16p13.3 deletion syndrome
chromosome 16p13.3 duplication syndrome
chromosome 16q22 deletion syndrome
chromosome 17 disorder
chromosome 17P13.3, telomeric, duplication syndrome
chromosome 17p deletion
chromosome 17p13.1 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 17q11.2 deletion syndrome, 1.4Mb
chromosome 17q12 deletion syndrome
chromosome 17q12 duplication syndrome
chromosome 18 disorder
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19 disorder
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 19q13.11 deletion syndrome, distal
chromosome 1p32-p31 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1p36 deletion syndrome, proximal
chromosome 1q deletion
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 1q41-q42 deletion syndrome
chromosome 2 disorder
chromosome 20 disorder
chromosome 21 disorder
chromosome 22q deletion
chromosome 22q11.2 deletion syndrome, distal
chromosome 22q11.2 microduplication syndrome
chromosome 22q13 duplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2p16.3 deletion syndrome
chromosome 2q32-q33 deletion syndrome
chromosome 3 disorder
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4 disorder
chromosome 4 short arm deletion
chromosome 4q21 deletion syndrome
chromosome 5 disorder
chromosome 5Q14.3 deletion syndrome, distal
chromosome 5p13 duplication syndrome
chromosome 6 disorder
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 7 disorder
chromosome 8 disorder
chromosome 8q21.11 deletion syndrome
chromosome 9 disorder
chromosome 9p deletion syndrome
chromosome X disorder
chromosome Xp11.22 duplication syndrome
chromosome Xp21 deletion syndrome
chromosome Xq28 duplication syndrome
chromosome Y disorder
chronic atrial and intestinal dysrhythmia
chronic cutaneous lupus erythematosus
chronic diarrheal disease
chronic gastritis
chronic granulomatous disease
chronic intestinal pseudoobstruction
chronic kidney disease
chronic leukemia
chronic mucocutaneous candidiasis
chronic myelogenous leukemia, BCR-ABL1 positive
chronic myelomonocytic leukemia
chronic obstructive pulmonary disease
chronic otitis media
chronic pancreatitis
chronic periodontitis
chronic primary adrenal insufficiency
chronic progressive multiple sclerosis
chronic pulmonary heart disease
chronic recurrent multifocal osteomyelitis
chronic recurrent multifocal osteomyelitis 3
chronic rhinosinusitis
chylomicron retention disease
ciliary dyskinesia, primary, 36, X-linked
ciliary dyskinesia, primary, 37
ciliary dyskinesia, primary, 38
ciliary dyskinesia, primary, 39
ciliary dyskinesia, primary, 40
ciliary dyskinesia, primary, 41
ciliary dyskinesia, primary, 42
ciliary dyskinesia, primary, 43
ciliary dyskinesia, primary, 44
ciliary dyskinesia, primary, 45
ciliary dyskinesia, primary, 46
ciliary dyskinesia, primary, 47, and lissencephaly
ciliary dyskinesia, primary, 48, without situs inversus
ciliary dyskinesia, primary, 49, without situs inversus
ciliary dyskinesia, primary, 50
ciliary dyskinesia, primary, 51
ciliary dyskinesia, primary, 52
ciliary dyskinesia, primary, 53
circadian rhythm sleep disorder
circadian rhythm sleep disorder, delayed sleep phase type
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
cirrhosis of liver
cirrhosis, familial
cirrhosis, noncryptogenic, susceptibility to
citrin deficiency
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 dopamine transporter deficiency syndrome
classic familial adenomatous polyposis
classic galactosemia
classic homocystinuria
classic lissencephaly
classic medulloblastoma
classic multiminicore myopathy
classic or attenuated familial adenomatous polyposis
classic organic aciduria
clear cell adenocarcinoma
clear cell renal carcinoma
cleft lip
cleft lip and alveolus
cleft lip/palate
cleft lip/palate-ectodermal dysplasia syndrome
cleft palate
cleft palate with or without ankyloglossia, X-linked
cleft palate, proliferative retinopathy, and developmental delay
cleft soft palate
cleidocranial dysplasia 1
cleidocranial dysplasia 2
cloacal exstrophy
clonal hematopoiesis
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
coenzyme q10 deficiency, primary, 9
cognitive disorder
cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
cognitive impairment with or without cerebellar ataxia
cold-induced sweating syndrome
cold-induced sweating syndrome - hyperthermia spectrum
cold-induced sweating syndrome 2
collagen 6-related myopathy
coloboma of iris
coloboma of optic nerve
coloboma, ocular, autosomal dominant
coloboma, ocular, autosomal recessive
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
colobomatous microphthalmia-rhizomelic dysplasia syndrome
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
colon adenocarcinoma
colon adenoma
colon carcinoma
colon serrated polyposis
colonic disorder
colonic neoplasm
color vision disorder
colorblindness, partial
colorectal adenocarcinoma
colorectal adenoma
colorectal cancer
colorectal cancer, hereditary nonpolyposis, type 6
colorectal cancer, hereditary nonpolyposis, type 7
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 PSAP deficiency
combined deficiency of factor V and factor VIII
combined dystonia
combined immunodeficiency
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 faciooculoskeletal anomalies
combined immunodeficiency with skin granulomas
combined immunodeficiency, X-linked
combined low LDL and fibrinogen
combined malonic and methylmalonic acidemia
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
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 28
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 oxidative phosphorylation deficiency 37
combined oxidative phosphorylation deficiency 38
combined oxidative phosphorylation deficiency 39
combined oxidative phosphorylation deficiency 40
combined oxidative phosphorylation deficiency 41
combined oxidative phosphorylation deficiency 42
combined oxidative phosphorylation deficiency 43
combined oxidative phosphorylation deficiency 44
combined oxidative phosphorylation deficiency 45
combined oxidative phosphorylation deficiency 46
combined oxidative phosphorylation deficiency 47
combined oxidative phosphorylation deficiency 48
combined oxidative phosphorylation deficiency 49
combined oxidative phosphorylation deficiency 50
combined oxidative phosphorylation deficiency 51
combined oxidative phosphorylation deficiency 52
combined oxidative phosphorylation deficiency 53
combined oxidative phosphorylation deficiency 54
combined oxidative phosphorylation deficiency 55
combined oxidative phosphorylation deficiency 56
combined oxidative phosphorylation deficiency 57
combined oxidative phosphorylation deficiency 59
combined pituitary hormone deficiencies, genetic form
combined pulmonary fibrosis-emphysema syndrome
common variable immunodeficiency
communicating hydrocephalus
communication disorder
complement component 2 deficiency
complement component 3 deficiency
complement component 4a deficiency
complement component 4b 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 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 neurodevelopmental disorder with motor features
conduction system disorder
cone dystrophy
cone dystrophy 1, X-linked
cone dystrophy 3
cone dystrophy 4
cone dystrophy 5, X-linked
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 22
cone-rod dystrophy 24
cone-rod dystrophy 3
cone-rod dystrophy 5
cone-rod dystrophy 6