|
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
|
|
ACD-related short telomere syndrome
|
|
ACD-related telomere biology disorder
|
|
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
|
|
AICA-ribosiduria
|
|
AIPL1-related retinopathy
|
|
AKT3-related overgrowth spectrum
|
|
AL amyloidosis
|
|
ALDH18A1-related de Barsy syndrome
|
|
ALG1-congenital disorder of glycosylation
|
|
ALG11-congenital disorder of glycosylation
|
|
ALG12-congenital disorder of glycosylation
|
|
ALG14-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-associated autosomal dominant polycystic kidney disease
|
|
ALG9-congenital disorder of glycosylation
|
|
ALS2-related motor neuron disease
|
|
AMED syndrome, digenic
|
|
ANE syndrome
|
|
AP-4 deficiency syndrome
|
|
APC-related attenuated familial adenomatous polyposis
|
|
ASAH1-related disorders
|
|
ASAH1-related sphingolipidosis
|
|
ATF6-related retinopathy
|
|
ATM-related cancer predisposition
|
|
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
|
|
Achondroplasia
|
|
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 hyperdiploidy
|
|
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
|
|
BAFopathy
|
|
BAP1-related tumor predisposition syndrome
|
|
BBS1-related ciliopathy
|
|
BBS10-related ciliopathy
|
|
BBS12-related ciliopathy
|
|
BBS2-related ciliopathy
|
|
BBS4-related ciliopathy
|
|
BBS5-related ciliopathy
|
|
BBS7-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
|
|
BRCA1-related cancer predisposition
|
|
BRCA2-related cancer predisposition
|
|
BRESEK syndrome
|
|
Bailey-Bloch congenital myopathy
|
|
Baller-Gerold syndrome
|
|
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
|
|
Beckwith-Wiedemann syndrome due to CDKN1C mutation
|
|
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
|
|
Brown-Vialetto-van Laere syndrome 2
|
|
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
|
|
CADDS
|
|
CAMOS syndrome
|
|
CAPN5-related vitreoretinopathy
|
|
CARASIL syndrome
|
|
CBL-related disorder
|
|
CCDC115-CDG
|
|
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
|
|
CHEK2-related cancer predisposition
|
|
CHILD syndrome
|
|
CHIME syndrome
|
|
CIC-rearranged sarcoma
|
|
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-congenital 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 adults
|
|
COVID-19–associated multisystem inflammatory syndrome in children
|
|
CPOX-related hereditary coproporphyria
|
|
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
|
|
CTR9-related neurodevelopmental disorder
|
|
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 disease
|
|
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 2T
|
|
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 A
|
|
Charcot-Marie-Tooth disease, dominant intermediate G
|
|
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
|
|
Charlevoix-Saguenay spastic ataxia
|
|
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 insufficiency 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
|
|
DHDDS-CDG
|
|
DHDDS-related 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
|
|
EN1-related dorsoventral syndrome
|
|
ENDOVE syndrome, limb-brain type
|
|
ENDOVE syndrome, limb-only type
|
|
EPHB4-associated vascular malformation spectrum
|
|
EWSR1-negative small round cell tumor
|
|
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, classic-like, 3
|
|
Ehlers-Danlos syndrome, dermatosparaxis type
|
|
Ehlers-Danlos syndrome, hypermobility type
|
|
Ehlers-Danlos syndrome, kyphoscoliotic type 1
|
|
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
|
|
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
|
|
El Hayek-Chahrour neurodevelopmental disorder
|
|
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
|
|
FZD4-related exudative vitreoretinopathy
|
|
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
|
|
Flaviviridae infectious disease
|
|
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
|
|
GNAO1-related developmental delay-seizures-movement disorder spectrum
|
|
GNAT2-related retinopathy
|
|
GNE myopathy
|
|
GNPTAB-mucolipidosis
|
|
GNPTG-mucolipidosis
|
|
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
|
|
HGSNAT-related retinopathy
|
|
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
|
|
IMPDH1-related retinopathy
|
|
IMPG1-related dominant retinopathy
|
|
IMPG1-related recessive retinopathy
|
|
IMPG2-related dominant retinopathy
|
|
IMPG2-related recessive retinopathy
|
|
IRF6-related condition
|
|
IRIDA syndrome
|
|
ITM2B amyloidosis
|
|
IVIC syndrome
|
|
IgA glomerulonephritis
|
|
IgA nephropathy, susceptibility to
|
|
IgA nephropathy, susceptibility to, 1
|
|
IgA nephropathy, susceptibility to, 3
|
|
IgAD1
|
|
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
|
|
Jeffries-Lakhani neurodevelopmental 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
|
|
LAMA5-related multisystemic syndrome
|
|
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
|
|
LRIT3-related retinopathy
|
|
LRP5-related exudative vitreoretinopathy
|
|
LRP5-related primary osteoporosis
|
|
LTBP2-related ocular dysgenesis
|
|
LZTFL1-related ciliopathy
|
|
LZTR1-related schwannomatosis
|
|
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
|
|
Leigh syndrome, mitochondrial
|
|
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
|
|
Lipedema
|
|
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 I deficiency 1
|
|
MHC class I deficiency 2
|
|
MHC class I deficiency 3
|
|
MHC class II deficiency
|
|
MHC class II deficiency 1
|
|
MHC class II deficiency 2
|
|
MHC class II deficiency 3
|
|
MHC class II deficiency 4
|
|
MHC class II deficiency 5
|
|
MIRAGE syndrome
|
|
MIT family translocation renal cell carcinoma
|
|
MKKS-related ciliopathy
|
|
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
|
|
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita 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
|
|
Mycobacterium tuberculosis, susceptibility
|
|
Myhre syndrome
|
|
N-acetylaspartate deficiency
|
|
NAA10-related syndrome
|
|
NAD(P)HX dehydratase deficiency
|
|
NAFLD1
|
|
NARP syndrome
|
|
NDE1-related microhydranencephaly
|
|
NDUFB11-related disorders
|
|
NEK9-related lethal skeletal dysplasia
|
|
NF2-related schwannomatosis
|
|
NIK deficiency
|
|
NK-cell enteropathy
|
|
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
|
|
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
|
|
PALB2-related cancer predisposition
|
|
PAX6-related ocular dysgenesis
|
|
PBRM1-related BAFopathy
|
|
PCARE-related retinopathy
|
|
PCWH syndrome
|
|
PDA1
|
|
PDE6A-related retinopathy
|
|
PDE6C-related retinopathy
|
|
PDE6G-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
|
|
PI4KA-related disorder
|
|
PIK3CA-related overgrowth spectrum
|
|
PIK3R2-related overgrowth spectrum
|
|
PLA2G6-associated neurodegeneration
|
|
PLIN1-related familial partial lipodystrophy
|
|
PMM2-congenital disorder of glycosylation
|
|
PMP22-RAI1 contiguous gene duplication syndrome
|
|
POLR1C-related disorder
|
|
POLR3-related leukodystrophy
|
|
POLR3A-related disorder
|
|
POLR3B-related disorder
|
|
PPARG-related familial partial lipodystrophy
|
|
PRKAG2-related cardiomyopathy
|
|
PROM1-related dominant retinopathy
|
|
PROM1-related recessive retinopathy
|
|
PROM1-related retinopathy
|
|
PRPF31-related retinopathy
|
|
PRPF8-related retinopathy
|
|
PRPH2-related retinopathy
|
|
PRRT2-associated paroxysmal movement disorder
|
|
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
|
|
RASopathy
|
|
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
|
|
RNU4ATAC spectrum disorder
|
|
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
|
|
Rothmund-Thomson syndrome, type 3
|
|
Rothmund-Thomson syndrome, type 4
|
|
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
|
|
SLC39A8-CDG
|
|
SLC6A3-related dopamine transporter deficiency syndrome
|
|
SMARCB1-deficient kidney medullary carcinoma
|
|
SMARCB1-related schwannomatosis
|
|
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 11
|
|
Seckel syndrome 2
|
|
Seckel syndrome 4
|
|
Seckel syndrome 5
|
|
Seckel syndrome 6
|
|
Seckel syndrome 7
|
|
Seckel syndrome 8
|
|
Seckel syndrome 9
|
|
Sengers syndrome
|
|
Senior-Boichis syndrome
|
|
Senior-Loken syndrome
|
|
Senior-Loken syndrome 1
|
|
Senior-Loken syndrome 4
|
|
Senior-Loken syndrome 5
|
|
Senior-Loken syndrome 6
|
|
Senior-Loken syndrome 7
|
|
Senior-Loken syndrome 8
|
|
Senior-Loken syndrome 9
|
|
Sezary syndrome
|
|
Shashi-Pena syndrome
|
|
Sheldon-hall syndrome
|
|
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 IL-7Ralpha deficiency
|
|
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
|
|
TMEM199-CDG
|
|
TOPORS-related retinopathy
|
|
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations
|
|
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
|
|
TRIP11-related skeletal dysplasia
|
|
TRPM1-related retinopathy
|
|
TRPV4-related bone disorder
|
|
TSPAN12-related exudative vitreoretinopathy
|
|
TSPAN12-related vitreoretinopathy
|
|
TTC8-related ciliopathy
|
|
TTLL5-related retinopathy
|
|
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
|
|
Weiss-Kruszka syndrome
|
|
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
|
|
abetalipoproteinemia
|
|
ablepharon macrostomia syndrome
|
|
abnormal mineralization disorder
|
|
absence epilepsy
|
|
absence of fingerprints-congenital milia syndrome
|
|
acanthoma
|
|
acanthosis nigricans
|
|
acatalasia
|
|
aceruloplasminemia
|
|
acetazolamide-responsive myotonia
|
|
acetyl-CoA acetyltransferase-2 deficiency
|
|
acetyl-coa carboxylase deficiency
|
|
acetylation, slow
|
|
achalasia
|
|
achalasia-alacrima syndrome
|
|
acheiropody
|
|
achondrogenesis
|
|
achondrogenesis type IA
|
|
achondrogenesis type IB
|
|
achondrogenesis type II
|
|
achromatopsia
|
|
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
|
|
acoustic neuroma
|
|
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 porphyria
|
|
acquired skeletal muscle disease
|
|
acral peeling skin syndrome
|
|
acrocallosal syndrome
|
|
acrocapitofemoral dysplasia
|
|
acrocephalopolysyndactyly
|
|
acrocephalosyndactyly
|
|
acrodermatitis enteropathica
|
|
acrodysostosis
|
|
acrodysostosis 2 with or without hormone resistance
|
|
acrofacial dysostosis
|
|
acrofacial dysostosis Cincinnati type
|
|
acrofacial dysostosis, Weyers type
|
|
acrokeratosis verruciformis
|
|
acroleukopathy, symmetric
|
|
acromegaly
|
|
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
|
|
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 interstitial pneumonia
|
|
acute kidney failure
|
|
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
|
|
adenocarcinoma in situ
|
|
adenocarcinoma of gallbladder and extrahepatic biliary tract
|
|
adenoid cystic carcinoma
|
|
adenoma
|
|
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
|
|
adrenal gland pheochromocytoma
|
|
adrenal medulla neoplasm
|
|
adrenocortical carcinoma, hereditary
|
|
adrenocortical insufficiency
|
|
adrenogenital syndrome
|
|
adrenoleukodystrophy
|
|
adult Fanconi 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
|
|
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
|
|
agranulocytosis
|
|
alacrima, achalasia, and intellectual disability syndrome
|
|
alanine glyoxylate aminotransferase deficiency
|
|
albinism
|
|
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
|
|
alkaptonuria
|
|
alkylglycerone-phosphate synthase deficiency
|
|
allergic disease
|
|
allergic rhinitis, susceptibility to
|
|
alobar holoprosencephaly
|
|
alopecia
|
|
alopecia - intellectual disability syndrome
|
|
alopecia areata
|
|
alopecia areata 1
|
|
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 spectrum
|
|
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-actinopathy
|
|
alpha-mannosidosis
|
|
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
|
|
amblyopia
|
|
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
|
|
amenorrhea
|
|
amino acid metabolism disease
|
|
aminoacylase 1 deficiency
|
|
amyloidosis
|
|
amyloidosis, hereditary systemic 1
|
|
amyloidosis, hereditary systemic 3
|
|
amyloidosis, hereditary systemic 5
|
|
amyloidosis, hereditary systemic 6
|
|
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
|
|
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
|
|
anencephaly 1
|
|
anencephaly 2
|
|
aneuploidy
|
|
aneurysm, intracranial berry, 12
|
|
aneurysm-osteoarthritis syndrome
|
|
angioedema
|
|
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
|
|
angiomyolipoma
|
|
angioosteohypertrophic syndrome
|
|
angiosarcoma
|
|
anhaptoglobinemia
|
|
anhidrosis
|
|
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
|
|
aniridia
|
|
aniridia 1
|
|
aniridia 2
|
|
aniridia 3
|
|
aniridia-cerebellar ataxia-intellectual disability syndrome
|
|
anisometropia
|
|
ankyloblepharon filiforme adnatum-cleft palate syndrome
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
|
|
ankyloglossia
|
|
annular epidermolytic ichthyosis
|
|
anodontia
|
|
anophthalmia/microphthalmia-esophageal atresia syndrome
|
|
anorectal malformation
|
|
anosmia
|
|
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
|
|
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
|
|
aphasia
|
|
aplasia cutis congenita
|
|
aplasia cutis-enamel dysplasia syndrome
|
|
aplasia of lacrimal and salivary glands
|
|
aplastic anemia
|
|
aplastic anemia, susceptibility to
|
|
apocrine sweat gland disorder
|
|
apolipoprotein c-III deficiency
|
|
apparent mineralocorticoid excess
|
|
appendicitis
|
|
apraxia
|
|
arachnoid cyst
|
|
argininosuccinic aciduria
|
|
arhinia, choanal atresia, and microphthalmia
|
|
ariboflavinosis
|
|
aromatase deficiency
|
|
aromatase excess syndrome
|
|
aromatic L-amino acid decarboxylase deficiency
|
|
arrhinia
|
|
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
|
|
arterial tortuosity-bone fragility syndrome
|
|
arteriosclerosis disorder
|
|
arteriovenous hemangioma/malformation
|
|
arteriovenous malformations of the brain
|
|
arteritis
|
|
arthritic joint disease
|
|
arthritis, sacroiliac
|
|
arthrogryposis
|
|
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
|
|
arthropathy
|
|
ascending colon cancer
|
|
aspartylglucosaminuria
|
|
aspergillosis
|
|
aspergillosis, susceptibility to
|
|
asphyxiating thoracic dystrophy 1
|
|
asphyxiating thoracic dystrophy 2
|
|
asphyxiating thoracic dystrophy 3
|
|
asphyxiating thoracic dystrophy 4
|
|
asphyxiating thoracic dystrophy 5
|
|
aspiration pneumonia
|
|
asthma
|
|
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
|
|
astigmatism
|
|
astroblastoma
|
|
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
|
|
atelosteogenesis type I
|
|
atelosteogenesis type II
|
|
atelosteogenesis type III
|
|
atherosclerosis
|
|
atherosclerosis susceptibility
|
|
atopic eczema
|
|
atransferrinemia
|
|
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 septal defect, ostium secundum type
|
|
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 2B
|
|
auriculocondylar syndrome 3
|
|
auriculocondylar syndrome 4
|
|
auroneurodental syndrome
|
|
autism
|
|
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 haploinsufficiency
|
|
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 arthritis and vasculitis
|
|
autoinflammation with episodic fever and immune dysregulation
|
|
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 dopa-responsive dystonia
|
|
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 30
|
|
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 58
|
|
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 epidermolytic ichthyosis
|
|
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 124
|
|
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 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 59
|
|
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 semi-dominant severe lipodystrophic laminopathy
|
|
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
|
|
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, 9, 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 paroxysmal tonic upgaze of childhood with ataxia
|
|
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
|
|
benign vascular tumor
|
|
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-mannosidosis
|
|
beta-thalassemia HBB/LCRB
|
|
beta-thalassemia and related diseases
|
|
beta-thalassemia intermedia
|
|
beta-thalassemia major
|
|
beta-thalassemia-X-linked thrombocytopenia syndrome
|
|
beta-ureidopropionase deficiency
|
|
bicornuate uterus
|
|
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
|
|
blastoma
|
|
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
|
|
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 nevus
|
|
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
|
|
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
|
|
brachyolmia-amelogenesis imperfecta syndrome
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
|
braddock-carey syndrome 2
|
|
bradyopsia
|
|
brain abnormalities, neurodegeneration, and dysosteosclerosis
|
|
brain aneurysm
|
|
brain cancer
|
|
brain disorder
|
|
brain dopamine-serotonin vesicular transport disease
|
|
brain edema
|
|
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 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
|
|
bronchiectasis with or without elevated sweat chloride 1
|
|
bronchiectasis with or without elevated sweat chloride 2
|
|
bronchiectasis with or without elevated sweat chloride 3
|
|
bronchiolitis
|
|
bronchogenic cyst
|
|
bronchopulmonary dysplasia
|
|
bruxism
|
|
bulbospinal muscular atrophy
|
|
butterfly-shaped pigment dystrophy
|
|
butyrylcholinesterase deficiency
|
|
cafe au lait spots, multiple
|
|
calcinosis
|
|
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
|
|
cancer or benign tumor
|
|
cancer-related condition
|
|
candidiasis, familial, 4
|
|
candidiasis, familial, 6
|
|
candidiasis, familial, 8
|
|
candidiasis, familial, 9
|
|
canker sore
|
|
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
|
|
carcinoma of duodenum
|
|
carcinoma of esophagus
|
|
carcinoma of gallbladder and extrahepatic biliary tract
|
|
carcinoma of liver and intrahepatic biliary tract
|
|
carcinoma of pharynx
|
|
carcinosarcoma
|
|
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
|
|
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, 2K
|
|
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 stenosis
|
|
carpal tunnel syndrome
|
|
carpal tunnel syndrome 1
|
|
carpal tunnel syndrome 2
|
|
cartilage-hair hypoplasia
|
|
cat-eye syndrome
|
|
cataract
|
|
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
|
|
caveolinopathy
|
|
cavernous hemangioma
|
|
cavernous sinus meningioma
|
|
cecal disorder
|
|
celiac disease, susceptibility to, 3
|
|
celiac disease, susceptibility to, 4
|
|
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 precocious puberty 1
|
|
central sleep apnea syndrome
|
|
centronuclear myopathy
|
|
cephalocele
|
|
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
|
|
chemotherapy-induced toxicity
|
|
cherubism
|
|
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 kidney cell carcinoma
|
|
childhood kidney neoplasm
|
|
childhood malignant kidney 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
|
|
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
|
|
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
|
|
cholangiocarcinoma
|
|
cholangitis
|
|
cholecystitis
|
|
cholelithiasis
|
|
cholestasis
|
|
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
|
|
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
|
|
chondrocalcinosis 2
|
|
chondrodysplasia
|
|
chondrodysplasia Blomstrand type
|
|
chondrodysplasia punctata
|
|
chondrodysplasia punctata, brachytelephalangic, autosomal
|
|
chondrodysplasia with joint dislocations, gPAPP type
|
|
chondrodysplasia-pseudohermaphroditism syndrome
|
|
chondrosarcoma
|
|
chordoma
|
|
chorea, childhood-onset, with psychomotor retardation
|
|
chorea-acanthocytosis
|
|
choreatic disease
|
|
chorioretinitis
|
|
choroid plexus cancer
|
|
choroid plexus carcinoma
|
|
choroid plexus neoplasm
|
|
choroid plexus papilloma
|
|
choroidal dystrophy, central areolar 2
|
|
choroidal dystrophy, central areolar, 1
|
|
choroidal neovascularization
|
|
choroideremia
|
|
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 16q12 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 17q23.1-q23.2 deletion 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
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chromosome 4 disorder
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|
chromosome 4 short arm deletion
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|
chromosome 4q21 deletion syndrome
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chromosome 5 disorder
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chromosome 5Q14.3 deletion syndrome, distal
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|
chromosome 5p13 duplication syndrome
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|
chromosome 6 disorder
|
|
chromosome 6q11-q14 deletion syndrome
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|
chromosome 6q24-q25 deletion syndrome
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|
chromosome 7 disorder
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|
chromosome 8 disorder
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|
chromosome 8q21.11 deletion syndrome
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|
chromosome 9 disorder
|
|
chromosome 9p deletion syndrome
|
|
chromosome X disorder
|
|
chromosome Xp11.22 duplication syndrome
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|
chromosome Xp21 deletion syndrome
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|
chromosome Xq28 duplication syndrome
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|
chromosome Y disorder
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chronic atrial and intestinal dysrhythmia
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|
chronic cutaneous lupus erythematosus
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chronic diarrheal disease
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chronic gastritis
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chronic granulomatous disease
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chronic intestinal pseudoobstruction
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chronic kidney disease
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|
chronic leukemia
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chronic mucocutaneous candidiasis
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chronic myelogenous leukemia, BCR-ABL1 positive
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chronic myelomonocytic leukemia
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|
chronic obstructive pulmonary disease
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|
chronic otitis media
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|
chronic pancreatitis
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|
chronic periodontitis
|
|
chronic primary adrenal insufficiency
|
|
chronic progressive multiple sclerosis
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|
chronic pulmonary heart disease
|
|
chronic recurrent multifocal osteomyelitis
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|
chronic recurrent multifocal osteomyelitis 3
|
|
chronic rhinosinusitis
|
|
chylomicron retention disease
|
|
ciliary dyskinesia, primary, 36, X-linked
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|
ciliary dyskinesia, primary, 37
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|
ciliary dyskinesia, primary, 38
|
|
ciliary dyskinesia, primary, 39
|
|
ciliary dyskinesia, primary, 40
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|
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
|
|
ciliopathy
|
|
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
|
|
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 and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
|
|
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
|
|
clubfoot
|
|
coagulation protein disease
|
|
cobblestone lissencephaly
|
|
cobblestone lissencephaly without muscular or ocular involvement
|
|
cocoon syndrome
|
|
coenzyme Q10 deficiency
|
|
coenzyme Q10 deficiency, primary, 1
|
|
coenzyme Q10 deficiency, primary, 3
|
|
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
|
|
colitis
|
|
collagen 6-related myopathy
|
|
collagenopathy
|
|
coloboma
|
|
coloboma of eyelid
|
|
coloboma of iris
|
|
coloboma of optic nerve
|
|
coloboma of superior eyelid
|
|
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
|
|
colpocephaly
|
|
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
|