|
12p12.1 microdeletion syndrome
|
|
14q11.2 microduplication syndrome
|
|
15q overgrowth syndrome
|
|
15q11q13 microduplication syndrome
|
|
15q14 microdeletion syndrome
|
|
16p11.2p12.2 microduplication syndrome
|
|
16p13.11 microdeletion syndrome
|
|
16p13.11 microduplication syndrome
|
|
16q24.3 microdeletion syndrome
|
|
17,20-lyase deficiency, isolated
|
|
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
|
|
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
|
|
17q11.2 microduplication syndrome
|
|
19p13.3 microduplication syndrome
|
|
2-aminoadipic 2-oxoadipic aciduria
|
|
2-hydroxyglutaric aciduria
|
|
2-methylbutyryl-CoA dehydrogenase deficiency
|
|
20p12.3 microdeletion syndrome
|
|
21q22.11q22.12 microdeletion syndrome
|
|
22q11.2 deletion syndrome
|
|
2q23.1 microdeletion syndrome
|
|
2q24 microdeletion syndrome
|
|
2q37 microdeletion syndrome
|
|
3-M syndrome
|
|
3-hydroxy-3-methylglutaric aciduria
|
|
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
|
|
3-hydroxyacyl-CoA dehydrogenase deficiency
|
|
3-hydroxyisobutyryl-CoA hydrolase deficiency
|
|
3-methylcrotonyl-CoA carboxylase 1 deficiency
|
|
3-methylcrotonyl-CoA carboxylase 2 deficiency
|
|
3-methylcrotonyl-CoA carboxylase deficiency
|
|
3-methylglutaconic aciduria
|
|
3-methylglutaconic aciduria type 1
|
|
3-methylglutaconic aciduria type 3
|
|
3-methylglutaconic aciduria type 5
|
|
3-methylglutaconic aciduria type 8
|
|
3-methylglutaconic aciduria type 9
|
|
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
|
|
3-methylglutaconic aciduria, type VIIA
|
|
3-methylglutaconic aciduria, type VIIB
|
|
3-phosphoglycerate dehydrogenase deficiency
|
|
3M syndrome 1
|
|
3M syndrome 2
|
|
3M syndrome 3
|
|
3MC syndrome
|
|
3MC syndrome 1
|
|
3MC syndrome 2
|
|
3MC syndrome 3
|
|
3p- syndrome
|
|
3q26 microduplication syndrome
|
|
46 XX gonadal dysgenesis
|
|
46,XX disorder of sex development
|
|
46,XX ovarian dysgenesis-short stature syndrome
|
|
46,XX sex reversal 1
|
|
46,XX sex reversal 2
|
|
46,XX sex reversal 4
|
|
46,XX testicular disorder of sex development
|
|
46,XY complete gonadal dysgenesis
|
|
46,XY disorder of sex development
|
|
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
|
|
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
|
|
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
|
|
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
|
|
46,XY ovotesticular disorder of sex development
|
|
46,XY partial gonadal dysgenesis
|
|
46,XY sex reversal 1
|
|
46,XY sex reversal 10
|
|
46,XY sex reversal 11
|
|
46,XY sex reversal 2
|
|
46,XY sex reversal 3
|
|
46,XY sex reversal 4
|
|
46,XY sex reversal 5
|
|
46,XY sex reversal 6
|
|
46,XY sex reversal 7
|
|
46,XY sex reversal 9
|
|
46,xx sex reversal 5
|
|
4p16.3 microduplication syndrome
|
|
5-oxoprolinase deficiency
|
|
5q14.3 microdeletion syndrome
|
|
5q35 microduplication syndrome
|
|
6q terminal deletion syndrome
|
|
7p22.1 microduplication syndrome
|
|
7q11.23 microduplication syndrome
|
|
8p inverted duplication/deletion syndrome
|
|
8p23.1 duplication syndrome
|
|
8q24.3 microdeletion syndrome
|
|
A20 haploinsufficiency
|
|
ABCA4-related retinopathy
|
|
ABCD syndrome
|
|
ABeta amyloidosis, Arctic type
|
|
ABeta amyloidosis, Iowa type
|
|
ABeta amyloidosis, Italian type
|
|
ABeta amyloidosis, dutch type
|
|
ABetaA21G amyloidosis
|
|
ABetaL34V amyloidosis
|
|
ABri amyloidosis
|
|
ACCES syndrome
|
|
ACTB-associated syndromic thrombocytopenia
|
|
ACTH-dependent Cushing syndrome
|
|
ACTH-independent Cushing syndrome
|
|
ACTH-independent adrenal Cushing syndrome, somatic
|
|
ACTH-independent macronodular adrenal hyperplasia 1
|
|
ACTH-independent macronodular adrenal hyperplasia 2
|
|
ACTL6A-related BAFopathy
|
|
ACys amyloidosis
|
|
ADAM9-related retinopathy
|
|
ADAR-related type 1 interferonopathy
|
|
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
|
|
ADULT syndrome
|
|
ADan amyloidosis
|
|
AFib amyloidosis
|
|
AGAT deficiency
|
|
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
|
|
AICA-ribosiduria
|
|
AIPL1-related retinopathy
|
|
AL amyloidosis
|
|
ALDH18A1-related de Barsy syndrome
|
|
ALG1-congenital disorder of glycosylation
|
|
ALG11-congenital disorder of glycosylation
|
|
ALG12-congenital disorder of glycosylation
|
|
ALG2-congenital disorder of glycosylation
|
|
ALG3-congenital disorder of glycosylation
|
|
ALG6-congenital disorder of glycosylation 1C
|
|
ALG8-congenital disorder of glycosylation
|
|
ALG9-congenital disorder of glycosylation
|
|
ALS2-related motor neuron disease
|
|
AMED syndrome, digenic
|
|
ANE syndrome
|
|
AP-4 deficiency syndrome
|
|
ASAH1-related disorders
|
|
ASAH1-related sphingolipidosis
|
|
ATF6-related retinopathy
|
|
ATP1A3-associated neurological disorder
|
|
ATP6AP2-related disorder
|
|
ATR-X-related syndrome
|
|
ATTRV122I amyloidosis
|
|
ATTRV30M amyloidosis
|
|
AXIN2-related attenuated familial adenomatous polyposis
|
|
Aagenaes syndrome
|
|
Aarskog-Scott syndrome, X-linked
|
|
Abruzzo-Erickson syndrome
|
|
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 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
|
|
BBS10-related ciliopathy
|
|
BBS9-related ciliopathy
|
|
BDV syndrome
|
|
BENTA disease
|
|
BEST1-related dominant retinopathy
|
|
BEST1-related recessive retinopathy
|
|
BEST1-related vitreoretinochoroidopathy
|
|
BH4-deficient hyperphenylalaninemia A
|
|
BNAR syndrome
|
|
BRESEK syndrome
|
|
Bailey-Bloch congenital myopathy
|
|
Baller-Gerold syndrome
|
|
Balo concentric sclerosis
|
|
Bamforth-Lazarus syndrome
|
|
Bannayan-Riley-Ruvalcaba syndrome
|
|
Baraitser-Winter cerebrofrontofacial syndrome
|
|
Baraitser-Winter syndrome 1
|
|
Baraitser-winter syndrome 2
|
|
Baralle-Macken syndrome
|
|
Barber-Say syndrome
|
|
Bardet-Biedl syndrome
|
|
Bardet-Biedl syndrome 1
|
|
Bardet-Biedl syndrome 10
|
|
Bardet-Biedl syndrome 11
|
|
Bardet-Biedl syndrome 12
|
|
Bardet-Biedl syndrome 13
|
|
Bardet-Biedl syndrome 14
|
|
Bardet-Biedl syndrome 15
|
|
Bardet-Biedl syndrome 16
|
|
Bardet-Biedl syndrome 17
|
|
Bardet-Biedl syndrome 18
|
|
Bardet-Biedl syndrome 19
|
|
Bardet-Biedl syndrome 2
|
|
Bardet-Biedl syndrome 20
|
|
Bardet-Biedl syndrome 22
|
|
Bardet-Biedl syndrome 3
|
|
Bardet-Biedl syndrome 4
|
|
Bardet-Biedl syndrome 5
|
|
Bardet-Biedl syndrome 6
|
|
Bardet-Biedl syndrome 7
|
|
Bardet-Biedl syndrome 8
|
|
Bardet-Biedl syndrome 9
|
|
Barrett esophagus
|
|
Bart-Pumphrey syndrome
|
|
Barth syndrome
|
|
Bartsocas-Papas syndrome 1
|
|
Bartsocas-Papas syndrome 2
|
|
Bartter disease type 1
|
|
Bartter disease type 2
|
|
Bartter disease type 3
|
|
Bartter disease type 4A
|
|
Bartter disease type 4B
|
|
Bartter disease type 5
|
|
Bartter syndrome
|
|
Bartter syndrome type 4
|
|
Bartter syndrome with hypocalcemia
|
|
Basilicata-Akhtar syndrome
|
|
Batten-Turner congenital myopathy
|
|
Beare-Stevenson cutis gyrata syndrome
|
|
Beck-Fahrner syndrome
|
|
Becker muscular dystrophy
|
|
Beckwith-Wiedemann syndrome
|
|
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
|
|
Beemer-Langer syndrome
|
|
Behcet disease
|
|
Behr syndrome
|
|
Bell's palsy
|
|
Berardinelli-Seip congenital lipodystrophy
|
|
Bernard-Soulier syndrome
|
|
Bernard-Soulier syndrome, type A2, autosomal dominant
|
|
Bethlem myopathy
|
|
Bethlem myopathy 1A
|
|
Bethlem myopathy 1B
|
|
Bethlem myopathy 1C
|
|
Bethlem myopathy 2
|
|
Bietti crystalline corneoretinal dystrophy
|
|
Birbeck granule deficiency
|
|
Birk-Barel syndrome
|
|
Birt-Hogg-Dube syndrome
|
|
Birt-Hogg-Dube syndrome 1
|
|
Bjornstad syndrome
|
|
Blau syndrome
|
|
Bloom syndrome
|
|
Bockenheimer syndrome
|
|
Bohring-Opitz syndrome
|
|
Boomerang dysplasia
|
|
Borjeson-Forssman-Lehmann syndrome
|
|
Bosch-Boonstra-Schaaf optic atrophy syndrome
|
|
Bosley-Salih-Alorainy syndrome
|
|
Bothnia retinal dystrophy
|
|
Boudin-Mortier syndrome
|
|
Bowen-Conradi syndrome
|
|
Braddock-Carey syndrome
|
|
Brody myopathy
|
|
Brooke-Spiegler syndrome
|
|
Brown syndrome
|
|
Brown-Vialetto-van Laere syndrome 1
|
|
Bruck syndrome
|
|
Bruck syndrome 1
|
|
Bruck syndrome 2
|
|
Brugada syndrome
|
|
Brugada syndrome 1
|
|
Brugada syndrome 2
|
|
Brugada syndrome 3
|
|
Brugada syndrome 4
|
|
Brugada syndrome 5
|
|
Brugada syndrome 6
|
|
Brugada syndrome 7
|
|
Brugada syndrome 8
|
|
Brugada syndrome 9
|
|
Brunet-Wagner neurodevelopmental syndrome
|
|
Brunner syndrome
|
|
Bruton-type agammaglobulinemia
|
|
Bryant-Li-Bhoj neurodevelopmental syndrome
|
|
Bryant-Li-Bhoj neurodevelopmental syndrome 1
|
|
Bryant-Li-Bhoj neurodevelopmental syndrome 2
|
|
Budd-Chiari syndrome
|
|
Buratti-Harel syndrome
|
|
Burkitt lymphoma
|
|
Buruli ulcer, susceptibility to
|
|
Buschke-Ollendorff syndrome
|
|
C syndrome
|
|
C1 inhibitor deficiency
|
|
C1Q deficiency
|
|
C1Q deficiency 1
|
|
C1Q deficiency 2
|
|
C1Q deficiency 3
|
|
C3 glomerulonephritis
|
|
CACNA1A-related complex neurodevelopmental disorder
|
|
CACNA1F-related retinopathy
|
|
CACNA2D4-related retinopathy
|
|
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
|
|
CHILD syndrome
|
|
CHIME syndrome
|
|
CIDEC-related familial partial lipodystrophy
|
|
CINCA syndrome
|
|
CK syndrome
|
|
CLAPO syndrome
|
|
CLOVES syndrome
|
|
CNGA1-related retinopathy
|
|
CNGA3-related retinopathy
|
|
CNGB1-related retinopathy
|
|
CNGB3-related retinopathy
|
|
CNS demyelinating autoimmune disease
|
|
COACH syndrome
|
|
COACH syndrome 1
|
|
COACH syndrome 2
|
|
COACH syndrome 3
|
|
CODAS syndrome
|
|
COFS syndrome
|
|
COG1-congenital disorder of glycosylation
|
|
COG4-congenital disorder of glycosylation
|
|
COG5-congenital disorder of glycosylation
|
|
COG6-ongenital disorder of glycosylation
|
|
COG7-congenital disorder of glycosylation
|
|
COG8-congenital disorder of glycosylation
|
|
COL4A1-related disorder
|
|
COPD, severe early onset
|
|
COVID-19–associated multisystem inflammatory syndrome in children
|
|
CPOX-related hereditary coproporphyria
|
|
CTSC-related disorder
|
|
CYP1B1-related glaucoma with or without anterior segment dysgenesis
|
|
Caffey disease
|
|
Camptosynpolydactyly, complex
|
|
Camurati-Engelmann disease
|
|
Canavan disease
|
|
Carey-Fineman-Ziter syndrome
|
|
Carey-Fineman-Ziter syndrome 1
|
|
Carey-Fineman-Ziter syndrome 2
|
|
Carney complex
|
|
Carney complex - trismus - pseudocamptodactyly syndrome
|
|
Carney complex, type 1
|
|
Carney triad
|
|
Carney-Stratakis syndrome
|
|
Caroli disease
|
|
Carpenter syndrome
|
|
Castleman-Kojima disease
|
|
Catel-Manzke syndrome
|
|
Catifa syndrome
|
|
Cayman type cerebellar ataxia
|
|
Cenani-Lenz syndactyly syndrome
|
|
Cernunnos-XLF deficiency
|
|
Char syndrome
|
|
Charcot-Marie-Tooth Disease, axonal, type 2GG
|
|
Charcot-Marie-Tooth disease
|
|
Charcot-Marie-Tooth disease X-linked dominant 1
|
|
Charcot-Marie-Tooth disease X-linked dominant 6
|
|
Charcot-Marie-Tooth disease X-linked recessive 4
|
|
Charcot-Marie-Tooth disease X-linked recessive 5
|
|
Charcot-Marie-Tooth disease axonal type 2C
|
|
Charcot-Marie-Tooth disease axonal type 2CC
|
|
Charcot-Marie-Tooth disease axonal type 2F
|
|
Charcot-Marie-Tooth disease axonal type 2K
|
|
Charcot-Marie-Tooth disease axonal type 2L
|
|
Charcot-Marie-Tooth disease axonal type 2N
|
|
Charcot-Marie-Tooth disease axonal type 2O
|
|
Charcot-Marie-Tooth disease axonal type 2P
|
|
Charcot-Marie-Tooth disease axonal type 2Q
|
|
Charcot-Marie-Tooth disease axonal type 2S
|
|
Charcot-Marie-Tooth disease axonal type 2T
|
|
Charcot-Marie-Tooth disease axonal type 2U
|
|
Charcot-Marie-Tooth disease axonal type 2V
|
|
Charcot-Marie-Tooth disease axonal type 2X
|
|
Charcot-Marie-Tooth disease axonal type 2Z
|
|
Charcot-Marie-Tooth disease dominant intermediate B
|
|
Charcot-Marie-Tooth disease dominant intermediate C
|
|
Charcot-Marie-Tooth disease dominant intermediate D
|
|
Charcot-Marie-Tooth disease dominant intermediate E
|
|
Charcot-Marie-Tooth disease dominant intermediate F
|
|
Charcot-Marie-Tooth disease recessive intermediate A
|
|
Charcot-Marie-Tooth disease recessive intermediate B
|
|
Charcot-Marie-Tooth disease recessive intermediate C
|
|
Charcot-Marie-Tooth disease recessive intermediate D
|
|
Charcot-Marie-Tooth disease type 1
|
|
Charcot-Marie-Tooth disease type 1A
|
|
Charcot-Marie-Tooth disease type 1B
|
|
Charcot-Marie-Tooth disease type 1C
|
|
Charcot-Marie-Tooth disease type 1D
|
|
Charcot-Marie-Tooth disease type 1E
|
|
Charcot-Marie-Tooth disease type 1F
|
|
Charcot-Marie-Tooth disease type 2
|
|
Charcot-Marie-Tooth disease type 2A1
|
|
Charcot-Marie-Tooth disease type 2A2
|
|
Charcot-Marie-Tooth disease type 2B
|
|
Charcot-Marie-Tooth disease type 2B1
|
|
Charcot-Marie-Tooth disease type 2B2
|
|
Charcot-Marie-Tooth disease type 2D
|
|
Charcot-Marie-Tooth disease type 2E
|
|
Charcot-Marie-Tooth disease type 2I
|
|
Charcot-Marie-Tooth disease type 2J
|
|
Charcot-Marie-Tooth disease type 2R
|
|
Charcot-Marie-Tooth disease type 2Y
|
|
Charcot-Marie-Tooth disease type 3
|
|
Charcot-Marie-Tooth disease type 4
|
|
Charcot-Marie-Tooth disease type 4A
|
|
Charcot-Marie-Tooth disease type 4B1
|
|
Charcot-Marie-Tooth disease type 4B2
|
|
Charcot-Marie-Tooth disease type 4B3
|
|
Charcot-Marie-Tooth disease type 4C
|
|
Charcot-Marie-Tooth disease type 4D
|
|
Charcot-Marie-Tooth disease type 4E
|
|
Charcot-Marie-Tooth disease type 4F
|
|
Charcot-Marie-Tooth disease type 4G
|
|
Charcot-Marie-Tooth disease type 4H
|
|
Charcot-Marie-Tooth disease type 4J
|
|
Charcot-Marie-Tooth disease type 4K
|
|
Charcot-Marie-Tooth disease type 5
|
|
Charcot-Marie-Tooth disease type X
|
|
Charcot-Marie-Tooth disease, axonal, IIa 2II
|
|
Charcot-Marie-Tooth disease, axonal, Type 2HH
|
|
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
|
|
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
|
|
Charcot-Marie-Tooth disease, axonal, type 2EE
|
|
Charcot-Marie-Tooth disease, axonal, type 2FF
|
|
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
|
|
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
|
|
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
|
|
Charcot-Marie-Tooth disease, demyelinating, type 1G
|
|
Charcot-Marie-Tooth disease, demyelinating, type 1J
|
|
Charcot-Marie-Tooth disease, dominant intermediate G
|
|
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
|
|
Charlevoix-Saguenay spastic ataxia
|
|
Charlie M syndrome
|
|
Chediak-Higashi syndrome
|
|
Chiari malformation
|
|
Chilton-Okur-Chung neurodevelopmental syndrome
|
|
Chitayat syndrome
|
|
Chopra-Amiel-Gordon syndrome
|
|
Christianson syndrome
|
|
Chudley-McCullough syndrome
|
|
Chuvash polycythemia
|
|
Clark-Baraitser syndrome
|
|
Clouston syndrome
|
|
Coats disease
|
|
Coats plus syndrome
|
|
Cockayne syndrome
|
|
Cockayne syndrome type 1
|
|
Cockayne syndrome type 2
|
|
Coffin-Lowry syndrome
|
|
Coffin-Siris syndrome
|
|
Coffin-Siris syndrome 1
|
|
Coffin-Siris syndrome 10
|
|
Coffin-Siris syndrome 11
|
|
Coffin-Siris syndrome 12
|
|
Coffin-Siris syndrome 5
|
|
Coffin-Siris syndrome 6
|
|
Coffin-Siris syndrome 7
|
|
Coffin-Siris syndrome 8
|
|
Cohen syndrome
|
|
Cohen-Gibson syndrome
|
|
Cold-induced sweating syndrome 1
|
|
Cole-Carpenter syndrome
|
|
Cole-Carpenter syndrome 1
|
|
Cole-Carpenter syndrome 2
|
|
Compton-North congenital myopathy
|
|
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
|
|
Cornelia de Lange syndrome
|
|
Cornelia de Lange syndrome 1
|
|
Cornelia de Lange syndrome 2
|
|
Cornelia de Lange syndrome 3
|
|
Cornelia de Lange syndrome 4
|
|
Cornelia de Lange syndrome 5
|
|
Cornelia de Lange syndrome 6
|
|
Costello syndrome
|
|
Cowden disease
|
|
Cowden syndrome 1
|
|
Cowden syndrome 3
|
|
Cowden syndrome 4
|
|
Cowden syndrome 5
|
|
Cowden syndrome 6
|
|
Cowden syndrome 7
|
|
Creutzfeldt Jacob disease
|
|
Cri-du-chat syndrome
|
|
Crigler-Najjar syndrome
|
|
Crigler-Najjar syndrome type 1
|
|
Crigler-Najjar syndrome type 2
|
|
Crohn disease
|
|
Cronkhite-Canada syndrome
|
|
Crouzon syndrome
|
|
Crouzon syndrome-acanthosis nigricans syndrome
|
|
Currarino triad
|
|
Curry-Jones syndrome
|
|
Cushing disease due to pituitary adenoma
|
|
Cushing syndrome
|
|
Cushing syndrome due to macronodular adrenal hyperplasia
|
|
D,L-2-hydroxyglutaric aciduria
|
|
D-2-hydroxyglutaric aciduria
|
|
D-2-hydroxyglutaric aciduria 1
|
|
D-glyceric aciduria
|
|
DDOST-congenital disorder of glycosylation
|
|
DDX41-related hematologic malignancy predisposition syndrome
|
|
DEGCAGS syndrome
|
|
DEND syndrome
|
|
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
|
|
DICER1-related tumor predisposition
|
|
DK1-congenital disorder of glycosylation
|
|
DKC1-related disorder
|
|
DNA ligase IV deficiency
|
|
DNA repair disease
|
|
DOCK2 deficiency
|
|
DOORS syndrome
|
|
DPAGT1-congenital disorder of glycosylation
|
|
DPH5-related diphthamide-deficiency syndrome
|
|
DPM3-congenital disorder of glycosylation
|
|
DYRK1A-related intellectual disability syndrome
|
|
Dandy-Walker syndrome
|
|
Danon disease
|
|
Darier disease
|
|
DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
|
|
DeSanto-Shinawi syndrome
|
|
DeSanto-Shinawi syndrome due to WAC point mutation
|
|
Delpire-McNeill syndrome
|
|
Dent disease
|
|
Dent disease type 1
|
|
Dent disease type 2
|
|
Dentici-Novelli neurodevelopmental syndrome
|
|
Denys-Drash syndrome
|
|
Desbuquois dysplasia
|
|
Desbuquois dysplasia 1
|
|
Desbuquois dysplasia 2
|
|
DiGeorge syndrome
|
|
Diamond-Blackfan anemia
|
|
Diamond-Blackfan anemia 1
|
|
Diamond-Blackfan anemia 10
|
|
Diamond-Blackfan anemia 11
|
|
Diamond-Blackfan anemia 12
|
|
Diamond-Blackfan anemia 13
|
|
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
|
|
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
|
|
Diamond-Blackfan anemia 16
|
|
Diamond-Blackfan anemia 17
|
|
Diamond-Blackfan anemia 18
|
|
Diamond-Blackfan anemia 19
|
|
Diamond-Blackfan anemia 20
|
|
Diamond-Blackfan anemia 21
|
|
Diamond-Blackfan anemia 3
|
|
Diamond-Blackfan anemia 4
|
|
Diamond-Blackfan anemia 5
|
|
Diamond-Blackfan anemia 6
|
|
Diamond-Blackfan anemia 7
|
|
Diamond-Blackfan anemia 8
|
|
Diamond-Blackfan anemia 9
|
|
Diamond-Blackfan anemia-like
|
|
Dias-Logan syndrome
|
|
Diets-Jongmans syndrome
|
|
Donnai-Barrow syndrome
|
|
Donohue syndrome
|
|
Dorfman-Chanarin disease
|
|
Dowling-Degos disease
|
|
Dowling-Degos disease 1
|
|
Dowling-Degos disease 2
|
|
Dowling-Degos disease 4
|
|
Down syndrome
|
|
Doyne honeycomb retinal dystrophy
|
|
Dravet syndrome
|
|
Duane retraction syndrome
|
|
Duane retraction syndrome 2
|
|
Duane retraction syndrome 3 with or without deafness
|
|
Duane syndrome type 1
|
|
Duane-radial ray syndrome
|
|
Dubin-Johnson syndrome
|
|
Duchenne muscular dystrophy
|
|
Dworschak-Punetha neurodevelopmental syndrome
|
|
Dyggve-Melchior-Clausen disease
|
|
EAST syndrome
|
|
EDICT syndrome
|
|
EEC syndrome
|
|
EEM syndrome
|
|
ELOVL4-related maculopathy
|
|
EMILIN-1-related connective tissue disease
|
|
EPHB4-associated vascular malformation spectrum
|
|
EYS-related retinopathy
|
|
Ebstein anomaly
|
|
Ehlers-Danlos syndrome
|
|
Ehlers-Danlos syndrome due to tenascin-X deficiency
|
|
Ehlers-Danlos syndrome type 7A
|
|
Ehlers-Danlos syndrome type 7B
|
|
Ehlers-Danlos syndrome, arthrochalasia type
|
|
Ehlers-Danlos syndrome, cardiac valvular type
|
|
Ehlers-Danlos syndrome, classic type
|
|
Ehlers-Danlos syndrome, classic type, 1
|
|
Ehlers-Danlos syndrome, classic type, 2
|
|
Ehlers-Danlos syndrome, classic-like, 2
|
|
Ehlers-Danlos syndrome, dermatosparaxis type
|
|
Ehlers-Danlos syndrome, hypermobility type
|
|
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
|
|
Ehlers-Danlos syndrome, kyphoscoliotic type 1
|
|
Ehlers-Danlos syndrome, musculocontractural type
|
|
Ehlers-Danlos syndrome, musculocontractural type 1
|
|
Ehlers-Danlos syndrome, musculocontractural type 2
|
|
Ehlers-Danlos syndrome, periodontal type 1
|
|
Ehlers-Danlos syndrome, periodontal type 2
|
|
Ehlers-Danlos syndrome, periodontitis type
|
|
Ehlers-Danlos syndrome, spondylocheirodysplastic type
|
|
Ehlers-Danlos syndrome, spondylodysplastic type
|
|
Ehlers-Danlos syndrome, spondylodysplastic type, 1
|
|
Ehlers-Danlos syndrome, spondylodysplastic type, 2
|
|
Ehlers-Danlos syndrome, vascular type
|
|
Ehlers-Danlos/osteogenesis imperfecta syndrome
|
|
Eiken syndrome
|
|
Ellis-van Creveld syndrome
|
|
Elsahy-Waters syndrome
|
|
Emery-Dreifuss muscular dystrophy
|
|
Emery-Dreifuss muscular dystrophy 1, X-linked
|
|
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
|
|
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
|
|
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
|
|
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
|
|
Emery-Dreifuss muscular dystrophy 6, X-linked
|
|
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
|
|
Epstein-Barr virus-associated carcinoma
|
|
Epstein-Barr virus-associated malignant lymphoproliferative disorder
|
|
Epstein-Barr virus-associated mesenchymal tumor
|
|
Epstein-Barr virus-related tumor
|
|
Ewing sarcoma
|
|
Ewing sarcoma/peripheral primitive neuroectodermal tumor
|
|
FADD-related immunodeficiency
|
|
FG syndrome
|
|
FG syndrome 1
|
|
FG syndrome 2
|
|
FG syndrome 4
|
|
FGFR3-related chondrodysplasia
|
|
FHL1-related myopathy
|
|
FLVCR1-related retinopathy with or without ataxia
|
|
FOXC1-related anterior segment dysgenesis
|
|
FOXG1 disorder
|
|
FRAXE intellectual disability
|
|
Fabry disease
|
|
Fanconi anemia
|
|
Fanconi anemia complementation group A
|
|
Fanconi anemia complementation group B
|
|
Fanconi anemia complementation group C
|
|
Fanconi anemia complementation group D1
|
|
Fanconi anemia complementation group D2
|
|
Fanconi anemia complementation group E
|
|
Fanconi anemia complementation group F
|
|
Fanconi anemia complementation group G
|
|
Fanconi anemia complementation group I
|
|
Fanconi anemia complementation group J
|
|
Fanconi anemia complementation group L
|
|
Fanconi anemia complementation group N
|
|
Fanconi anemia complementation group O
|
|
Fanconi anemia complementation group P
|
|
Fanconi anemia complementation group Q
|
|
Fanconi anemia complementation group R
|
|
Fanconi anemia complementation group T
|
|
Fanconi anemia complementation group U
|
|
Fanconi anemia complementation group V
|
|
Fanconi anemia, complementation group S
|
|
Fanconi anemia, complementation group W
|
|
Fanconi renotubular syndrome
|
|
Fanconi renotubular syndrome 1
|
|
Fanconi renotubular syndrome 2
|
|
Fanconi renotubular syndrome 3
|
|
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
|
|
Fanconi renotubular syndrome 5
|
|
Farber lipogranulomatosis
|
|
Faundes-Banka syndrome
|
|
Feingold syndrome
|
|
Feingold syndrome type 1
|
|
Feingold syndrome type 2
|
|
Ferguson-Bonni neurodevelopmental syndrome
|
|
Filippi syndrome
|
|
Fine-Lubinsky syndrome
|
|
Finnish type amyloidosis
|
|
Finnish upper limb-onset distal myopathy
|
|
Fliedner-Zweier syndrome
|
|
Floating-Harbor syndrome
|
|
Fontaine progeroid syndrome
|
|
Fowler syndrome
|
|
Frank-Ter Haar syndrome
|
|
Fraser syndrome
|
|
Fraser syndrome 1
|
|
Fraser syndrome 2
|
|
Fraser syndrome 3
|
|
Frasier syndrome
|
|
Freeman-Sheldon syndrome
|
|
Friedreich ataxia
|
|
Friedreich ataxia 1
|
|
Friedreich ataxia with retained reflexes
|
|
Fuchs' endothelial dystrophy
|
|
Fuhrmann syndrome
|
|
G6PD deficiency
|
|
GABA aminotransaminase deficiency
|
|
GAPO syndrome
|
|
GATA1-Related X-Linked Cytopenia
|
|
GATA2 deficiency with susceptibility to MDS/AML
|
|
GATA5-related congenital heart defects
|
|
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
|
|
GCGR-related hyperglucagonemia
|
|
GLUT1 deficiency syndrome
|
|
GM1 gangliosidosis
|
|
GM1 gangliosidosis type 1
|
|
GM1 gangliosidosis type 2
|
|
GM1 gangliosidosis type 3
|
|
GM2 gangliosidosis
|
|
GM3 synthase deficiency
|
|
GNAT2-related retinopathy
|
|
GNE myopathy
|
|
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
|
|
HSD10 disease, atypical type
|
|
HSD10 mitochondrial disease
|
|
HTRA1-related autosomal dominant cerebral small vessel disease
|
|
Haddad syndrome
|
|
Hailey-Hailey disease
|
|
Haim-Munk syndrome
|
|
Hao-Fountain syndrome
|
|
Hao-Fountain syndrome due to USP7 mutation
|
|
Harel-Yoon syndrome
|
|
Hartnup disease
|
|
Hartsfield-Bixler-Demyer syndrome
|
|
Hashimoto thyroiditis
|
|
Heinz body anemia
|
|
Helicobacter pylori infection, susceptibility to
|
|
Hengel-Maroofian-Schols syndrome
|
|
Hennekam lymphangiectasia-lymphedema syndrome 1
|
|
Hennekam lymphangiectasia-lymphedema syndrome 2
|
|
Hennekam syndrome
|
|
Her2-receptor negative breast cancer
|
|
Hermansky-Pudlak syndrome
|
|
Hermansky-Pudlak syndrome 1
|
|
Hermansky-Pudlak syndrome 10
|
|
Hermansky-Pudlak syndrome 11
|
|
Hermansky-Pudlak syndrome 2
|
|
Hermansky-Pudlak syndrome 3
|
|
Hermansky-Pudlak syndrome 4
|
|
Hermansky-Pudlak syndrome 5
|
|
Hermansky-Pudlak syndrome 6
|
|
Hermansky-Pudlak syndrome 7
|
|
Hermansky-Pudlak syndrome 8
|
|
Hermansky-Pudlak syndrome 9
|
|
Hermansky-Pudlak syndrome with pulmonary fibrosis
|
|
Hermansky-Pudlak syndrome without pulmonary fibrosis
|
|
Herpesviridae infectious disease
|
|
Heyn-Sproul-Jackson syndrome
|
|
Hiatt-Neu-Cooper neurodevelopmental syndrome
|
|
Hirschsprung disease
|
|
Hirschsprung disease, cardiac defects, and autonomic dysfunction
|
|
Hirschsprung disease, susceptibility to
|
|
Hirschsprung disease, susceptibility to, 1
|
|
Hirschsprung disease, susceptibility to, 2
|
|
Hirschsprung disease, susceptibility to, 3
|
|
Hirschsprung disease, susceptibility to, 4
|
|
Hirschsprung disease-ganglioneuroblastoma syndrome
|
|
Hodgkins lymphoma
|
|
Hogue-Janssens syndrome 1
|
|
Holt-Oram syndrome
|
|
Houge-Janssens syndrome
|
|
Houge-Janssens syndrome 2
|
|
Houge-Janssens syndrome 3
|
|
Hoxha-Aliu syndrome
|
|
Hoyeraal-Hreidarsson syndrome
|
|
Hunter-McAlpine craniosynostosis
|
|
Huntington disease
|
|
Huntington disease and related disorders
|
|
Huntington disease-like 1
|
|
Huntington disease-like 2
|
|
Huntington disease-like syndrome
|
|
Huppke-Brendel syndrome
|
|
Hurler syndrome
|
|
Hurler-Scheie syndrome
|
|
Hutchinson-Gilford progeria syndrome
|
|
IDH3B-related retinopathy
|
|
IFAP syndrome
|
|
IFAP syndrome 1, with or without BRESHECK syndrome
|
|
IFAP syndrome 2
|
|
IFIH1-related type 1 interferonopathy
|
|
IFT140-related recessive ciliopathy
|
|
IKBKG-related immunodeficiency with or without ectodermal dysplasia
|
|
IL21-related infantile inflammatory bowel disease
|
|
IMAGe syndrome
|
|
IMPG2-related dominant retinopathy
|
|
IMPG2-related recessive retinopathy
|
|
IRIDA syndrome
|
|
ITM2B amyloidosis
|
|
IVIC syndrome
|
|
IgA glomerulonephritis
|
|
IgA nephropathy, susceptibility to
|
|
IgA nephropathy, susceptibility to, 1
|
|
IgA nephropathy, susceptibility to, 3
|
|
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
|
|
Jervell and Lange-Nielsen syndrome
|
|
Jervell and Lange-Nielsen syndrome 1
|
|
Jervell and Lange-Nielsen syndrome 2
|
|
Jeune syndrome
|
|
Johanson-Blizzard syndrome
|
|
Joubert syndrome
|
|
Joubert syndrome 1
|
|
Joubert syndrome 10
|
|
Joubert syndrome 13
|
|
Joubert syndrome 14
|
|
Joubert syndrome 15
|
|
Joubert syndrome 16
|
|
Joubert syndrome 17
|
|
Joubert syndrome 18
|
|
Joubert syndrome 19
|
|
Joubert syndrome 2
|
|
Joubert syndrome 20
|
|
Joubert syndrome 21
|
|
Joubert syndrome 22
|
|
Joubert syndrome 23
|
|
Joubert syndrome 24
|
|
Joubert syndrome 25
|
|
Joubert syndrome 26
|
|
Joubert syndrome 27
|
|
Joubert syndrome 28
|
|
Joubert syndrome 29
|
|
Joubert syndrome 3
|
|
Joubert syndrome 30
|
|
Joubert syndrome 31
|
|
Joubert syndrome 32
|
|
Joubert syndrome 33
|
|
Joubert syndrome 34
|
|
Joubert syndrome 35
|
|
Joubert syndrome 36
|
|
Joubert syndrome 37
|
|
Joubert syndrome 38
|
|
Joubert syndrome 39
|
|
Joubert syndrome 40
|
|
Joubert syndrome 5
|
|
Joubert syndrome 6
|
|
Joubert syndrome 7
|
|
Joubert syndrome 8
|
|
Joubert syndrome 9
|
|
Joubert syndrome and related disorders
|
|
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
|
|
Joubert syndrome with ocular defect
|
|
Joubert syndrome with oculorenal defect
|
|
Joubert syndrome with renal defect
|
|
Juberg-Hayward syndrome
|
|
KAT6B-related multiple congenital anomalies syndrome
|
|
KBG syndrome
|
|
KCNH1 associated disorder
|
|
KID syndrome
|
|
KIF1A related neurological disorder
|
|
KIF7-related ciliopathy
|
|
KINSSHIP syndrome
|
|
KIZ-related retinopathy
|
|
Kabuki syndrome
|
|
Kabuki syndrome 1
|
|
Kabuki syndrome 2
|
|
Kahrizi syndrome
|
|
Kallmann syndrome
|
|
Kaposi sarcoma, susceptibility to
|
|
Kaposi's sarcoma
|
|
Kapur-Toriello syndrome
|
|
Kaya-Barakat-Masson syndrome
|
|
Kearns-Sayre syndrome
|
|
Keipert syndrome
|
|
Kennedy disease
|
|
Kenny-Caffey syndrome
|
|
Keppen-Lubinsky syndrome
|
|
Keutel syndrome
|
|
Khan-Khan-Katsanis syndrome
|
|
Kilquist syndrome
|
|
Kindler syndrome
|
|
King-Denborough syndrome
|
|
Kleefstra syndrome
|
|
Kleefstra syndrome 1
|
|
Kleefstra syndrome 2
|
|
Kleefstra syndrome due to a point mutation
|
|
Kleine-Levin syndrome
|
|
Klinefelter syndrome
|
|
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
|
|
Klippel-Feil syndrome
|
|
Klippel-Feil syndrome 1, autosomal dominant
|
|
Klippel-Feil syndrome 2, autosomal recessive
|
|
Klippel-Feil syndrome 3, autosomal dominant
|
|
Kniest dysplasia
|
|
Knobloch syndrome
|
|
Knobloch syndrome 1
|
|
Knobloch syndrome 2
|
|
Kohlschutter-Tonz syndrome-like
|
|
Koolen-de Vries syndrome
|
|
Kostmann syndrome
|
|
Krabbe disease
|
|
Krabbe disease due to saposin A deficiency
|
|
Kufor-Rakeb syndrome
|
|
Kury-Isidor syndrome
|
|
L-2-hydroxyglutaric aciduria
|
|
L-ferritin deficiency
|
|
L1 syndrome
|
|
LADD syndrome
|
|
LADD syndrome 1
|
|
LAMA2-related muscular dystrophy
|
|
LAMB2-related infantile-onset nephrotic syndrome
|
|
LCA5-related retinopathy
|
|
LCAT deficiency
|
|
LEOPARD syndrome 1
|
|
LEOPARD syndrome 2
|
|
LEOPARD syndrome 3
|
|
LIPE-related familial partial lipodystrophy
|
|
LRP5-related exudative vitreoretinopathy
|
|
LRP5-related primary osteoporosis
|
|
LTBP2-related ocular dysgenesis
|
|
Lafora disease
|
|
Lamb-Shaffer syndrome
|
|
Landau-Kleffner syndrome
|
|
Langer mesomelic dysplasia
|
|
Laron syndrome
|
|
Larsen syndrome
|
|
Larsen-like syndrome, B3GAT3 type
|
|
Laurence-Moon syndrome
|
|
Leber congenital amaurosis
|
|
Leber congenital amaurosis 1
|
|
Leber congenital amaurosis 10
|
|
Leber congenital amaurosis 11
|
|
Leber congenital amaurosis 12
|
|
Leber congenital amaurosis 13
|
|
Leber congenital amaurosis 14
|
|
Leber congenital amaurosis 15
|
|
Leber congenital amaurosis 16
|
|
Leber congenital amaurosis 17
|
|
Leber congenital amaurosis 2
|
|
Leber congenital amaurosis 3
|
|
Leber congenital amaurosis 4
|
|
Leber congenital amaurosis 5
|
|
Leber congenital amaurosis 6
|
|
Leber congenital amaurosis 7
|
|
Leber congenital amaurosis 8
|
|
Leber congenital amaurosis 9
|
|
Leber congenital amaurosis with early-onset deafness
|
|
Leber hereditary optic neuropathy
|
|
Leber hereditary optic neuropathy, autosomal recessive
|
|
Leber optic atrophy and dystonia
|
|
Leber optic atrophy, susceptibility to
|
|
Leber plus disease
|
|
Leber-like hereditary optic neuropathy, autosomal recessive 1
|
|
Leber-like hereditary optic neuropathy, autosomal recessive 2
|
|
Legg-Calve-Perthes disease
|
|
Legius syndrome
|
|
Leigh syndrome
|
|
Lennox-Gastaut syndrome
|
|
Lenz-Majewski hyperostotic dwarfism
|
|
Leri pleonosteosis
|
|
Leri-Weill dyschondrosteosis
|
|
Lesch-Nyhan syndrome
|
|
Lessel-Kreienkamp syndrome
|
|
Lewy body dementia
|
|
Leydig cell hypoplasia
|
|
Leydig cell hypoplasia, type 1
|
|
Lhermitte-Duclos disease
|
|
Li-Campeau syndrome
|
|
Li-Fraumeni syndrome
|
|
Li-Ghorbani-Weisz-Hubshman syndrome
|
|
Li-fraumeni-like syndrome
|
|
Liang-Wang syndrome
|
|
Liberfarb syndrome
|
|
Lichtenstein-Knorr syndrome
|
|
Liddle syndrome
|
|
Liddle syndrome 1
|
|
Liddle syndrome 2
|
|
Liddle syndrome 3
|
|
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 II deficiency
|
|
MIRAGE syndrome
|
|
MIT family translocation renal cell carcinoma
|
|
MME-related autosomal dominant Charcot Marie Tooth disease type 2
|
|
MOGS-congenital disorder of glycosylation
|
|
MORM syndrome
|
|
MPDU1-congenital disorder of glycosylation
|
|
MPI-congenital disorder of glycosylation
|
|
MRCS syndrome
|
|
MYH7-related skeletal myopathy
|
|
MYPN-related myopathy
|
|
Machado-Joseph disease
|
|
Madras motor neuron disease
|
|
Maffucci syndrome
|
|
Majeed syndrome
|
|
Malan overgrowth syndrome
|
|
Marbach-Rustad progeroid syndrome
|
|
Marbach-Schaaf neurodevelopmental syndrome
|
|
Marden-Walker syndrome
|
|
Marfan and Marfan-related disorder
|
|
Marfan syndrome
|
|
Marie Unna hereditary hypotrichosis
|
|
Marinesco-Sjogren syndrome
|
|
Marshall syndrome
|
|
Marshall-Smith syndrome
|
|
Martsolf syndrome
|
|
Martsolf syndrome 1
|
|
Martsolf syndrome 2
|
|
Matthew-Wood syndrome
|
|
Mauriac syndrome
|
|
Mayer-Rokitansky-Kuster-Hauser syndrome
|
|
Mayer-Rokitansky-Kuster-Hauser syndrome type 1
|
|
Mayer-Rokitansky-Küster-Hauser syndrome type 2
|
|
McCune-Albright syndrome
|
|
McKusick-Kaufman syndrome
|
|
McLeod neuroacanthocytosis syndrome
|
|
Meacham syndrome
|
|
Meckel syndrome
|
|
Meckel syndrome 13
|
|
Meckel syndrome, type 1
|
|
Meckel syndrome, type 10
|
|
Meckel syndrome, type 11
|
|
Meckel syndrome, type 2
|
|
Meckel syndrome, type 3
|
|
Meckel syndrome, type 4
|
|
Meckel syndrome, type 5
|
|
Meckel syndrome, type 6
|
|
Meckel syndrome, type 8
|
|
Meckel syndrome, type 9
|
|
Meesmann corneal dystrophy
|
|
Meester-Loeys syndrome
|
|
Meier-Gorlin syndrome
|
|
Meier-Gorlin syndrome 1
|
|
Meier-Gorlin syndrome 2
|
|
Meier-Gorlin syndrome 3
|
|
Meier-Gorlin syndrome 4
|
|
Meier-Gorlin syndrome 5
|
|
Meier-Gorlin syndrome 6
|
|
Meier-Gorlin syndrome 7
|
|
Meier-Gorlin syndrome 8
|
|
Melnick-Needles syndrome
|
|
Mendelian encephalopathy
|
|
Mendelian neurodevelopmental disorder
|
|
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
|
|
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
|
|
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
|
|
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
|
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
|
|
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
|
|
Meniere disease
|
|
Menke-Hennekam syndrome
|
|
Menke-Hennekam syndrome 1
|
|
Menke-Hennekam syndrome 2
|
|
Menkes disease
|
|
Miller-Dieker lissencephaly syndrome
|
|
Mitchell syndrome
|
|
Miyoshi muscular dystrophy 1
|
|
Miyoshi muscular dystrophy 3
|
|
Miyoshi myopathy
|
|
Mobius syndrome
|
|
Mowat-Wilson syndrome
|
|
Moyamoya disease
|
|
Moyamoya disease 2
|
|
Moyamoya disease 5
|
|
Moyamoya disease with early-onset achalasia
|
|
Muckle-Wells syndrome
|
|
Muenke syndrome
|
|
Muir-Torre syndrome
|
|
Mullegama-Klein-Martinez syndrome
|
|
Mungan syndrome
|
|
Myhre syndrome
|
|
N-acetylaspartate deficiency
|
|
NAA10-related syndrome
|
|
NAD(P)HX dehydratase deficiency
|
|
NAFLD1
|
|
NARP syndrome
|
|
NDE1-related microhydranencephaly
|
|
NEK9-related lethal skeletal dysplasia
|
|
NIK deficiency
|
|
NK-cell enteropathy
|
|
NMNAT1-related retinopathy
|
|
NOG-related symphalangism spectrum disorder
|
|
NPHP3-related Meckel-like syndrome
|
|
NYX-related retinopathy
|
|
Naegeli-Franceschetti-Jadassohn syndrome
|
|
Nager acrofacial dysostosis
|
|
Nance-Horan syndrome
|
|
Naxos disease
|
|
Nestor-Guillermo progeria syndrome
|
|
Netherton syndrome
|
|
Neu-Laxova syndrome
|
|
Neu-Laxova syndrome 1
|
|
Neu-Laxova syndrome 2
|
|
Newfoundland cone-rod dystrophy
|
|
Nezelof syndrome
|
|
Niemann-Pick disease
|
|
Niemann-Pick disease type A
|
|
Niemann-Pick disease type B
|
|
Niemann-Pick disease type C
|
|
Niemann-Pick disease, type C1
|
|
Niemann-Pick disease, type C2
|
|
Nijmegen breakage syndrome
|
|
Nijmegen breakage syndrome-like disorder
|
|
Nizon-Isidor syndrome
|
|
Noonan syndrome
|
|
Noonan syndrome 1
|
|
Noonan syndrome 10
|
|
Noonan syndrome 11
|
|
Noonan syndrome 13
|
|
Noonan syndrome 14
|
|
Noonan syndrome 2
|
|
Noonan syndrome 3
|
|
Noonan syndrome 4
|
|
Noonan syndrome 5
|
|
Noonan syndrome 6
|
|
Noonan syndrome 7
|
|
Noonan syndrome 8
|
|
Noonan syndrome 9
|
|
Noonan syndrome and Noonan-related syndrome
|
|
Noonan syndrome with multiple lentigines
|
|
Noonan syndrome-like disorder with loose anagen hair
|
|
Noonan syndrome-like disorder with loose anagen hair 1
|
|
Noonan syndrome-like disorder with loose anagen hair 2
|
|
Norman-Roberts syndrome
|
|
Norrie disease
|
|
North Carolina macular dystrophy
|
|
Norum disease
|
|
O'Donnell-Luria-Rodan syndrome
|
|
OPA1-related optic atrophy with or without extraocular features
|
|
OPTN-related open angle glaucoma
|
|
Ochoa syndrome
|
|
Ogden syndrome
|
|
Oguchi disease
|
|
Oguchi disease-1
|
|
Oguchi disease-2
|
|
Ohdo syndrome and variants
|
|
Okt4 epitope deficiency
|
|
Okur-Chung neurodevelopmental syndrome
|
|
Ollier disease
|
|
Olmsted syndrome
|
|
Olmsted syndrome 1
|
|
Olmsted syndrome 2
|
|
Olmsted syndrome, X-linked
|
|
Omenn syndrome
|
|
Opitz G/BBB syndrome
|
|
P5CS deficiency
|
|
PAX6-related ocular dysgenesis
|
|
PBRM1-related BAFopathy
|
|
PCARE-related retinopathy
|
|
PCWH syndrome
|
|
PDA1
|
|
PDE6A-related retinopathy
|
|
PEHO syndrome
|
|
PEHO-like syndrome
|
|
PERCHING syndrome
|
|
PGM1-congenital disorder of glycosylation
|
|
PHACE syndrome
|
|
PHARC syndrome
|
|
PHGDH deficiency
|
|
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
|
|
PLA2G6-associated neurodegeneration
|
|
PLIN1-related familial partial lipodystrophy
|
|
PMM2-congenital disorder of glycosylation
|
|
PMP22-RAI1 contiguous gene duplication syndrome
|
|
PPARG-related familial partial lipodystrophy
|
|
PRKAG2-related cardiomyopathy
|
|
PRPF31-related retinopathy
|
|
PRPF8-related retinopathy
|
|
PSAP-related sphingolipidosis
|
|
PSAT deficiency
|
|
PSPH deficiency
|
|
PTEN hamartoma tumor syndrome
|
|
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
|
|
PYCR1-related de Barsy syndrome
|
|
Paganini-Miozzo syndrome
|
|
Paget disease of bone 2, early-onset
|
|
Paget disease of bone 3
|
|
Paget disease of bone 6
|
|
Pallister-Hall syndrome
|
|
Papillon-Lefevre disease
|
|
Paris-Trousseau thrombocytopenia
|
|
Parkinson disease
|
|
Parkinson disease 11, autosomal dominant, susceptibility to
|
|
Parkinson disease 13, autosomal dominant, susceptibility to
|
|
Parkinson disease 17
|
|
Parkinson disease 18, autosomal dominant, susceptibility to
|
|
Parkinson disease 21
|
|
Parkinson disease 22, autosomal dominant
|
|
Parkinson disease 24, autosomal dominant, susceptibility to
|
|
Parkinson disease 5, autosomal dominant, susceptibility to
|
|
Parkinson disease, mitochondrial
|
|
Partington syndrome
|
|
Patterson-Stevenson-Fontaine syndrome
|
|
Pearson syndrome
|
|
Pelger-Huet anomaly
|
|
Pelger-Huet-like anomaly and episodic fever with abdominal pain
|
|
Pelizaeus-Merzbacher-like disease
|
|
Pelizeaus-Merzbacher spectrum disorder
|
|
Pendred syndrome
|
|
Perlman syndrome
|
|
Perrault syndrome
|
|
Perrault syndrome 1
|
|
Perrault syndrome 2
|
|
Perrault syndrome 3
|
|
Perrault syndrome 4
|
|
Perrault syndrome 5
|
|
Perrault syndrome 6
|
|
Perry syndrome
|
|
Peters anomaly
|
|
Peters plus syndrome
|
|
Peutz-Jeghers syndrome
|
|
Pfeiffer syndrome
|
|
Pfeiffer syndrome type 1
|
|
Pfeiffer syndrome type 3
|
|
Phelan-McDermid syndrome
|
|
Pick disease
|
|
Pierpont syndrome
|
|
Pierson syndrome
|
|
Pilarowski-Bjornsson syndrome
|
|
Pitt-Hopkins syndrome
|
|
Pitt-Hopkins-like syndrome
|
|
Pitt-Hopkins-like syndrome 2
|
|
Poirier-Bienvenu neurodevelopmental syndrome
|
|
Poland syndrome
|
|
Polymerase proofreading-related adenomatous polyposis
|
|
Potocki-Lupski syndrome
|
|
Potocki-Shaffer syndrome
|
|
Prader-Willi syndrome
|
|
Prader-Willi-like syndrome
|
|
Prieto syndrome
|
|
Primrose syndrome
|
|
Proteus syndrome
|
|
Proteus-like syndrome
|
|
Protrusio acetabuli
|
|
Pseudofolliculitis barbae
|
|
Pyle disease
|
|
Quebec platelet disorder
|
|
RAB18 deficiency
|
|
RAB23-related Carpenter syndrome
|
|
RAB28-related retinopathy
|
|
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
|
|
RNU7-1-related type 1 interferonopathy
|
|
RP2-related retinopathy
|
|
RPE65-related dominant retinopathy
|
|
RPE65-related recessive retinopathy
|
|
RPGR-related retinopathy
|
|
RYR1-related myopathy
|
|
Rabin-Pappas syndrome
|
|
Rabson-Mendenhall syndrome
|
|
Radio-Tartaglia syndrome
|
|
Rafiq syndrome
|
|
Rahman syndrome
|
|
Rajab interstitial lung disease with brain calcifications
|
|
Rajab interstitial lung disease with brain calcifications 1
|
|
Rajab interstitial lung disease with brain calcifications 2
|
|
Rapp-Hodgkin syndrome
|
|
Rauch-Steindl syndrome
|
|
Reis-Bucklers corneal dystrophy
|
|
Renpenning syndrome
|
|
Rett syndrome
|
|
Rett syndrome, congenital variant
|
|
Revesz syndrome
|
|
Reynolds syndrome
|
|
Rh deficiency syndrome
|
|
Richieri Costa-Pereira syndrome
|
|
Rieger anomaly
|
|
Rienhoff syndrome
|
|
Riley-Day syndrome
|
|
Ritscher-Schinzel syndrome
|
|
Ritscher-Schinzel syndrome 1
|
|
Ritscher-Schinzel syndrome 2
|
|
Ritscher-Schinzel syndrome 3
|
|
Ritscher-Schinzel syndrome 4
|
|
Roberts-SC phocomelia syndrome
|
|
Robinow syndrome
|
|
Robinow-Sorauf syndrome
|
|
Roifman syndrome
|
|
Rothmund-Thomson syndrome
|
|
Rothmund-Thomson syndrome type 1
|
|
Rothmund-Thomson syndrome type 2
|
|
Rotor syndrome
|
|
Roussy-Levy syndrome
|
|
Rubinstein Taybi like syndrome
|
|
Rubinstein-Taybi syndrome
|
|
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
|
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
|
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
|
|
SAMHD1-related type 1 interferonopathy
|
|
SATB2 associated disorder
|
|
SCN4A-related channelopathy
|
|
SCN4A-related myopathy, autosomal recessive
|
|
SEC61A1 deficiency
|
|
SELENON-related myopathy
|
|
SERAC1-related neurological disorder
|
|
SERKAL syndrome
|
|
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
|
|
SF3B4-related acrofacial dysostosis
|
|
SHORT syndrome
|
|
SHOX-related short stature
|
|
SIN3A-related intellectual disability syndrome
|
|
SIN3A-related intellectual disability syndrome due to a point mutation
|
|
SLC35A1-congenital disorder of glycosylation
|
|
SLC35A2-congenital disorder of glycosylation
|
|
SLC39A8-CDG
|
|
SLC6A3-related dopamine transporter deficiency syndrome
|
|
SMARCB1-deficient kidney medullary carcinoma
|
|
SMARCC1-associated developmental dysgenesis syndrome
|
|
SNRNP200-related dominant retinopathy
|
|
SPAST-related motor disorder
|
|
SQSTM1-related multisystem proteinopathy
|
|
SRD5A3-congenital disorder of glycosylation
|
|
SSR4-congenital disorder of glycosylation
|
|
STAT3-related early-onset multisystem autoimmune disease
|
|
STING-associated vasculopathy with onset in infancy
|
|
STT3A-congenital disorder of glycosylation
|
|
STT3B-congenital disorder of glycosylation
|
|
SYNCRIP-related neurodevelopmental disorder
|
|
SYNGAP1-related developmental and epileptic encephalopathy
|
|
Saethre-Chotzen syndrome
|
|
Salla disease
|
|
Sandhoff disease
|
|
Sandhoff disease, adult form
|
|
Sandhoff disease, infantile form
|
|
Sandhoff disease, juvenile form
|
|
SchC6pf-Schulz-Passarge syndrome
|
|
Schaaf-Yang syndrome
|
|
Scheie syndrome
|
|
Scheuermann disease
|
|
Schimke immuno-osseous dysplasia
|
|
Schinzel-Giedion syndrome
|
|
Schmid metaphyseal chondrodysplasia
|
|
Schnyder corneal dystrophy
|
|
Schuurs-Hoeijmakers syndrome
|
|
Schwartz-Jampel syndrome
|
|
Schwartz-Jampel syndrome type 1
|
|
Scott syndrome
|
|
Seckel syndrome
|
|
Seckel syndrome 1
|
|
Seckel syndrome 10
|
|
Seckel syndrome 2
|
|
Seckel syndrome 4
|
|
Seckel syndrome 5
|
|
Seckel syndrome 6
|
|
Seckel syndrome 7
|
|
Seckel syndrome 8
|
|
Seckel syndrome 9
|
|
Sengers syndrome
|
|
Senior-Boichis syndrome
|
|
Senior-Loken syndrome
|
|
Senior-Loken syndrome 1
|
|
Senior-Loken syndrome 4
|
|
Senior-Loken syndrome 5
|
|
Senior-Loken syndrome 6
|
|
Senior-Loken syndrome 7
|
|
Senior-Loken syndrome 8
|
|
Senior-Loken syndrome 9
|
|
Sertoli cell-only syndrome
|
|
Sezary syndrome
|
|
Shashi-Pena syndrome
|
|
Sheldon-hall syndrome
|
|
Shiga toxin-associated hemolytic uremic syndrome
|
|
Short stature, Dauber-Argente type
|
|
Shprintzen-Goldberg syndrome
|
|
Shukla-Vernon syndrome
|
|
Shwachman-Diamond syndrome
|
|
Shwachman-Diamond syndrome 1
|
|
Shwachman-Diamond syndrome 2
|
|
Siddiqi syndrome
|
|
Sifrim-Hitz-Weiss syndrome
|
|
Silver-Russell syndrome
|
|
Silver-Russell syndrome 1
|
|
Silver-Russell syndrome 3
|
|
Silver-Russell syndrome 5
|
|
Silverman-Handmaker type dyssegmental dysplasia
|
|
Simpson-Golabi-Behmel syndrome
|
|
Simpson-Golabi-Behmel syndrome type 1
|
|
Simpson-Golabi-Behmel syndrome type 2
|
|
Singleton-Merten dysplasia
|
|
Singleton-Merten syndrome 1
|
|
Singleton-Merten syndrome 2
|
|
Sjogren-Larsson syndrome
|
|
Skraban-Deardorff syndrome
|
|
Smith-Lemli-Opitz syndrome
|
|
Smith-Magenis syndrome
|
|
Smith-McCort dysplasia
|
|
Smith-McCort dysplasia 1
|
|
Smith-McCort dysplasia 2
|
|
Sneddon syndrome
|
|
Snijders Blok-Campeau syndrome
|
|
Sorsby fundus dystrophy
|
|
Sotos syndrome
|
|
Spondyloenchondrodysplasia with immune dysregulation
|
|
Sprengel deformity
|
|
Stankiewicz-Isidor syndrome
|
|
Stargardt disease
|
|
Stargardt disease 3
|
|
Stargardt disease 4
|
|
Steel syndrome
|
|
Stevens-Johnson syndrome
|
|
Stickler syndrome
|
|
Stickler syndrome type 1
|
|
Stickler syndrome type 2
|
|
Stickler syndrome, type 4
|
|
Stickler syndrome, type 5
|
|
Stickler syndrome, type I, nonsyndromic ocular
|
|
Stormorken syndrome
|
|
Stromme syndrome
|
|
Sturge-Weber syndrome
|
|
Stuve-Wiedemann syndrome
|
|
Stuve-Wiedemann syndrome 2
|
|
Stüve-Wiedemann syndrome 1
|
|
Suleiman-El-Hattab syndrome
|
|
Sweeney-Cox syndrome
|
|
T+ B+ severe combined immunodeficiency
|
|
T-B+ severe combined immunodeficiency
|
|
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
|
|
T-B+ severe combined immunodeficiency due to JAK3 deficiency
|
|
T-B+ severe combined immunodeficiency due to gamma chain deficiency
|
|
T-B- severe combined immunodeficiency
|
|
T-cell acute lymphoblastic leukemia
|
|
T-cell and NK-cell neoplasm
|
|
T-cell immunodeficiency
|
|
T-cell immunodeficiency with epidermodysplasia verruciformis
|
|
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
|
|
T-cell leukemia
|
|
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
|
|
T-cell non-Hodgkin lymphoma
|
|
T-cell prolymphocytic leukemia
|
|
T-substance anomaly
|
|
TARP syndrome
|
|
TCF12-related craniosynostosis
|
|
TCR-alpha-beta-positive T-cell deficiency
|
|
TEK-related primary glaucoma
|
|
TELO2-related intellectual disability-neurodevelopmental disorder
|
|
TFRC-related combined immunodeficiency
|
|
TH-deficient dopa-responsive dystonia
|
|
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
|
|
TMEM165-congenital disorder of glycosylation
|
|
TMEM199-CDG
|
|
TOPORS-related retinopathy
|
|
TPM2-related myopathy
|
|
TPM3-related myopathy
|
|
TRAF3 haploinsufficiency
|
|
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
|
|
TREX1-related type 1 interferonopathy
|
|
TRPM1-related retinopathy
|
|
TRPV4-related bone disorder
|
|
TSPAN12-related exudative vitreoretinopathy
|
|
TSPAN12-related vitreoretinopathy
|
|
TTN-related myopathy
|
|
TUBB2A-related tubulinopathy
|
|
TUBB3-related tubulinopathy
|
|
TUBB4A-related neurologic disorder
|
|
TWIST1-related craniosynostosis
|
|
Tan-Almurshedi syndrome
|
|
Tangier disease
|
|
Tatton-Brown-Rahman overgrowth syndrome
|
|
Tay-Sachs disease
|
|
Tay-Sachs disease AB variant
|
|
Tay-Sachs disease, B1 variant
|
|
Teebi hypertelorism syndrome
|
|
Teebi hypertelorism syndrome 1
|
|
Teebi hypertelorism syndrome 2
|
|
Temple-Baraitser syndrome
|
|
Tenorio syndrome
|
|
Tessadori-Van Haaften neurodevelopmental syndrome 3
|
|
Tessadori-Van Haaften neurodevelopmental syndrome 4
|
|
Tessadori-Van-Haaften neurodevelopmental syndrome
|
|
Tessadori-van Haaften neurodevelopmental syndrome 1
|
|
Tessadori-van Haaften neurodevelopmental syndrome 2
|
|
Tessier number 4 facial cleft
|
|
Thiel-Behnke corneal dystrophy
|
|
Thomsen and Becker disease
|
|
Tietz syndrome
|
|
Timothy syndrome
|
|
Timothy syndrome type 1
|
|
Timothy syndrome, classic type
|
|
Tn polyagglutination syndrome
|
|
Tolchin-Le Caignec syndrome
|
|
Toriello-Lacassie-Droste syndrome
|
|
Tourette syndrome
|
|
Townes-Brocks syndrome
|
|
Townes-Brocks syndrome 1
|
|
Townes-Brocks syndrome 2
|
|
Treacher Collins syndrome 1
|
|
Treacher Collins syndrome 2
|
|
Treacher Collins syndrome 3
|
|
Treacher Collins syndrome 4
|
|
Treacher-Collins syndrome
|
|
Troyer syndrome
|
|
Turner syndrome
|
|
UROD-related inherited porphyria
|
|
UV-induced skin damage, susceptibility to
|
|
UV-sensitive syndrome
|
|
UV-sensitive syndrome 1
|
|
UV-sensitive syndrome 2
|
|
UV-sensitive syndrome 3
|
|
Uhl anomaly
|
|
Ullrich congenital muscular dystrophy
|
|
Ullrich congenital muscular dystrophy 1A
|
|
Ullrich congenital muscular dystrophy 1B
|
|
Ullrich congenital muscular dystrophy 1C
|
|
Ullrich congenital muscular dystrophy 2
|
|
Unverricht-Lundborg syndrome
|
|
Uruguay Faciocardiomusculoskeletal syndrome
|
|
Usher syndrome
|
|
Usher syndrome type 1
|
|
Usher syndrome type 1B
|
|
Usher syndrome type 1C
|
|
Usher syndrome type 1D
|
|
Usher syndrome type 1F
|
|
Usher syndrome type 1G
|
|
Usher syndrome type 1J
|
|
Usher syndrome type 2
|
|
Usher syndrome type 2A
|
|
Usher syndrome type 2C
|
|
Usher syndrome type 2D
|
|
Usher syndrome type 3
|
|
Usher syndrome type 3A
|
|
Usher syndrome type 3B
|
|
Usher syndrome, type 1M
|
|
Usher syndrome, type 4
|
|
Usmani-Riazuddin syndrome, autosomal dominant
|
|
Usmani-Riazuddin syndrome, autosomal recessive
|
|
VACTERL association, X-linked, with or without hydrocephalus
|
|
VACTERL with hydrocephalus
|
|
VACTERL/vater association
|
|
VEXAS syndrome
|
|
VISS syndrome
|
|
Ververi-Brady syndrome
|
|
Vici syndrome
|
|
Vissers-Bodmer syndrome
|
|
WAGR syndrome
|
|
WHIM syndrome
|
|
WHIM syndrome 1
|
|
WHIM syndrome 2
|
|
Waardenburg syndrome
|
|
Waardenburg syndrome type 1
|
|
Waardenburg syndrome type 2
|
|
Waardenburg syndrome type 2A
|
|
Waardenburg syndrome type 2D
|
|
Waardenburg syndrome type 2E
|
|
Waardenburg syndrome type 3
|
|
Waardenburg syndrome type 4A
|
|
Waardenburg syndrome type 4B
|
|
Waardenburg syndrome type 4C
|
|
Waardenburg syndrome, IIa 2F
|
|
Waardenburg-Shah syndrome
|
|
Wagner disease
|
|
Waldenstrom macroglobulinemia
|
|
Warburg micro syndrome
|
|
Warburg micro syndrome 1
|
|
Warburg micro syndrome 2
|
|
Warburg micro syndrome 3
|
|
Warburg micro syndrome 4
|
|
Warsaw breakage syndrome
|
|
Watson syndrome
|
|
Weaver syndrome
|
|
Webb-Dattani syndrome
|
|
Weill-Marchesani 4 syndrome, recessive
|
|
Weill-Marchesani syndrome
|
|
Weill-Marchesani syndrome 1
|
|
Weill-Marchesani syndrome 2, dominant
|
|
Weill-Marchesani syndrome 3
|
|
Werner syndrome
|
|
West Nile virus, susceptibility to
|
|
West syndrome
|
|
White-Kernohan syndrome
|
|
Wieacker-Wolff syndrome
|
|
Wieacker-Wolff syndrome (spectrum)
|
|
Wieacker-Wolff syndrome, female-restricted
|
|
Wiedemann-Rautenstrauch syndrome
|
|
Wiedemann-Steiner syndrome
|
|
Williams syndrome
|
|
Wilms tumor
|
|
Wilms tumor 1
|
|
Wilms tumor 2
|
|
Wilms tumor 5
|
|
Wilms tumor 6
|
|
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
|
|
Wilson disease
|
|
Wilson-Turner syndrome
|
|
Winchester syndrome
|
|
Wiskott-Aldrich syndrome
|
|
Wiskott-Aldrich syndrome 2
|
|
Wolcott-Rallison syndrome
|
|
Wolf-Hirschhorn syndrome
|
|
Wolff-Parkinson-White syndrome
|
|
Wolfram syndrome
|
|
Wolfram syndrome 1
|
|
Wolfram syndrome 2
|
|
Wolfram-like syndrome
|
|
Wolman disease
|
|
Woodhouse-Sakati syndrome
|
|
Worster-Drought syndrome
|
|
X inactivation, familial skewed
|
|
X inactivation, familial skewed, 1
|
|
X-linked Alport syndrome
|
|
X-linked Ehlers-Danlos syndrome
|
|
X-linked Emery-Dreifuss muscular dystrophy
|
|
X-linked Mendelian susceptibility to mycobacterial diseases
|
|
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
|
|
X-linked Opitz G/BBB syndrome
|
|
X-linked acrogigantism due to Xq26 microduplication
|
|
X-linked adrenal hypoplasia congenita
|
|
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
|
|
X-linked central congenital hypothyroidism with late-onset testicular enlargement
|
|
X-linked cerebellar ataxia
|
|
X-linked cerebral adrenoleukodystrophy
|
|
X-linked cerebral-cerebellar-coloboma syndrome syndrome
|
|
X-linked chondrodysplasia punctata
|
|
X-linked chondrodysplasia punctata 1
|
|
X-linked chondrodysplasia punctata 2
|
|
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
|
|
X-linked complex neurodevelopmental disorder
|
|
X-linked complicated corpus callosum dysgenesis
|
|
X-linked cone-rod dystrophy
|
|
X-linked cone-rod dystrophy 1
|
|
X-linked cone-rod dystrophy 3
|
|
X-linked congenital hemolytic anemia
|
|
X-linked congenital stationary night blindness
|
|
X-linked deafness
|
|
X-linked disease
|
|
X-linked distal spinal muscular atrophy type 3
|
|
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
|
X-linked dominant disease
|
|
X-linked dominant hypophosphatemic rickets
|
|
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
|
|
X-linked dystonia-parkinsonism
|
|
X-linked erythropoietic protoporphyria
|
|
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
|
|
X-linked hereditary sensory and autonomic neuropathy with hearing loss
|
|
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
|
|
X-linked hypohidrotic ectodermal dysplasia
|
|
X-linked hypophosphatemic rickets
|
|
X-linked ichthyosis syndrome
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
|
X-linked intellectual disability
|
|
X-linked intellectual disability with hypopituitarism
|
|
X-linked intellectual disability with isolated growth hormone deficiency
|
|
X-linked intellectual disability with marfanoid habitus
|
|
X-linked intellectual disability, Cabezas type
|
|
X-linked intellectual disability, Cantagrel type
|
|
X-linked intellectual disability, Stocco dos Santos type
|
|
X-linked intellectual disability, van Esch type
|
|
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
|
|
X-linked intellectual disability-cerebellar hypoplasia syndrome
|
|
X-linked intellectual disability-epilepsy syndrome
|
|
X-linked intellectual disability-hypotonia-movement disorder syndrome
|
|
X-linked intellectual disability-psychosis-macroorchidism syndrome
|
|
X-linked intellectual disability-short stature-overweight syndrome
|
|
X-linked lissencephaly with abnormal genitalia
|
|
X-linked lymphoproliferative disease due to SH2D1A deficiency
|
|
X-linked lymphoproliferative disease due to XIAP deficiency
|
|
X-linked lymphoproliferative syndrome
|
|
X-linked mixed hearing loss with perilymphatic gusher
|
|
X-linked myopathy with excessive autophagy
|
|
X-linked myopathy with postural muscle atrophy
|
|
X-linked myotubular myopathy
|
|
X-linked nonsyndromic hearing loss
|
|
X-linked osteoporosis with fractures
|
|
X-linked parkinsonism-spasticity syndrome
|
|
X-linked progressive cerebellar ataxia
|
|
X-linked recessive disease
|
|
X-linked recessive ocular albinism
|
|
X-linked reticulate pigmentary disorder
|
|
X-linked retinoschisis
|
|
X-linked scapuloperoneal muscular dystrophy
|
|
X-linked severe congenital neutropenia
|
|
X-linked sideroblastic anemia 1
|
|
X-linked sideroblastic anemia with ataxia
|
|
X-linked spasticity-intellectual disability-epilepsy syndrome
|
|
X-linked spondyloepimetaphyseal dysplasia
|
|
X-linked syndromic intellectual disability
|
|
XFE progeroid syndrome
|
|
Xq25 microduplication syndrome
|
|
Y-linked disease
|
|
Yao syndrome
|
|
Yoon-Bellen neurodevelopmental syndrome
|
|
Yuksel-Vogel-Bauer syndrome
|
|
Yunis-Varon syndrome
|
|
ZTTK syndrome
|
|
Zaki syndrome
|
|
Zellweger spectrum disorders
|
|
Ziegler-Huang syndrome
|
|
Zimmermann-Laband syndrome
|
|
Zimmermann-Laband syndrome 1
|
|
Zimmermann-Laband syndrome 2
|
|
abdominal aortic aneurysm
|
|
abdominal obesity-metabolic syndrome
|
|
abdominal obesity-metabolic syndrome 3
|
|
abdominal obesity-metabolic syndrome 4
|
|
abdominal wall malformation
|
|
abducens nerve disorder
|
|
abducens nerve palsy
|
|
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
|
|
acquired Creutzfeldt-Jakob disease
|
|
acquired angioedema
|
|
acquired aplastic anemia
|
|
acquired idiopathic inflammatory myopathy
|
|
acquired lipodystrophy
|
|
acquired metabolic disease
|
|
acquired motor neuron disease
|
|
acquired partial lipodystrophy
|
|
acquired peripheral neuropathy
|
|
acquired polycythemia vera
|
|
acquired skeletal muscle disease
|
|
acral peeling skin syndrome
|
|
acrocallosal syndrome
|
|
acrocapitofemoral dysplasia
|
|
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 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
|
|
adrenocortical carcinoma, hereditary
|
|
adrenocortical insufficiency
|
|
adrenogenital syndrome
|
|
adrenoleukodystrophy
|
|
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 areata 2
|
|
alopecia totalis
|
|
alopecia universalis
|
|
alopecia universalis congenita
|
|
alopecia, androgenetic, 1
|
|
alopecia, isolated
|
|
alopecia-intellectual disability syndrome 1
|
|
alopecia-intellectual disability syndrome 4
|
|
alpha 1-antitrypsin deficiency
|
|
alpha granule disease
|
|
alpha thalassemia
|
|
alpha thalassemia-X-linked intellectual disability syndrome
|
|
alpha-2-plasmin inhibitor deficiency
|
|
alpha-N-acetylgalactosaminidase deficiency
|
|
alpha-N-acetylgalactosaminidase deficiency type 1
|
|
alpha-N-acetylgalactosaminidase deficiency type 2
|
|
alpha-N-acetylgalactosaminidase deficiency type 3
|
|
alpha-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, 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
|
|
aplasia cutis congenita
|
|
aplasia of lacrimal and salivary glands
|
|
aplastic anemia
|
|
aplastic anemia, susceptibility to
|
|
apocrine sweat gland disorder
|
|
apolipoprotein c-III deficiency
|
|
apparent mineralocorticoid excess
|
|
appendicitis
|
|
arachnoid cyst
|
|
argininosuccinic aciduria
|
|
arhinia, choanal atresia, and microphthalmia
|
|
ariboflavinosis
|
|
aromatase deficiency
|
|
aromatase excess syndrome
|
|
aromatic L-amino acid decarboxylase deficiency
|
|
arrhinia-choanal atresia-microphthalmia syndrome
|
|
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
|
|
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
|
|
arrhythmogenic right ventricular cardiomyopathy
|
|
arrhythmogenic right ventricular dysplasia 1
|
|
arrhythmogenic right ventricular dysplasia 10
|
|
arrhythmogenic right ventricular dysplasia 11
|
|
arrhythmogenic right ventricular dysplasia 12
|
|
arrhythmogenic right ventricular dysplasia 13
|
|
arrhythmogenic right ventricular dysplasia 5
|
|
arrhythmogenic right ventricular dysplasia 8
|
|
arrhythmogenic right ventricular dysplasia 9
|
|
arrhythmogenic right ventricular dysplasia, familial, 14
|
|
arterial calcification of infancy
|
|
arterial calcification, generalized, of infancy, 1
|
|
arterial calcification, generalized, of infancy, 2
|
|
arterial disorder
|
|
arterial tortuosity syndrome
|
|
arteriosclerosis disorder
|
|
arteriovenous hemangioma/malformation
|
|
arteriovenous malformations of the brain
|
|
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
|
|
aspiration pneumonitis
|
|
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 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 standstill
|
|
atrial standstill 1
|
|
atrial standstill 2
|
|
atrial tachycardia
|
|
atrichia with papular lesions
|
|
atrioventricular block
|
|
atrioventricular dissociation
|
|
atrioventricular septal defect
|
|
atrioventricular septal defect 4
|
|
atrioventricular septal defect 5
|
|
atrioventricular septal defect, susceptibility to, 2
|
|
atrophoderma vermiculata
|
|
atrophy of testis
|
|
attention deficit-hyperactivity disorder
|
|
attention deficit-hyperactivity disorder 8
|
|
attention deficit-hyperactivity disorder, susceptibility to, 7
|
|
attenuated familial adenomatous polyposis
|
|
atypical Rett syndrome
|
|
atypical chronic myeloid leukemia, BCR-ABL1 negative
|
|
atypical coarctation of aorta
|
|
atypical dentin dysplasia due to SMOC2 deficiency
|
|
atypical endometrial hyperplasia
|
|
atypical glycine encephalopathy
|
|
atypical hemolytic uremic syndrome with complement gene abnormality
|
|
atypical hemolytic-uremic syndrome
|
|
atypical hemolytic-uremic syndrome with B factor anomaly
|
|
atypical hemolytic-uremic syndrome with C3 anomaly
|
|
atypical hemolytic-uremic syndrome with I factor anomaly
|
|
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
|
|
atypical hemolytic-uremic syndrome with thrombomodulin anomaly
|
|
atypical juvenile parkinsonism
|
|
atypical progressive supranuclear palsy syndrome
|
|
atypical teratoid rhabdoid tumor
|
|
auditory neuropathy
|
|
auditory neuropathy, autosomal dominant 2
|
|
auditory neuropathy, autosomal dominant 3
|
|
auditory neuropathy-optic atrophy syndrome
|
|
auditory system disorder
|
|
aural atresia, congenital
|
|
auriculocondylar syndrome
|
|
auriculocondylar syndrome 1
|
|
auriculocondylar syndrome 2
|
|
auriculocondylar syndrome 3
|
|
auriculocondylar syndrome 4
|
|
autism
|
|
autism spectrum disorder
|
|
autism spectrum disorder - epilepsy - arthrogryposis syndrome
|
|
autism spectrum disorder due to AUTS2 deficiency
|
|
autism, susceptibility to, 1
|
|
autism, susceptibility to, 10
|
|
autism, susceptibility to, 15
|
|
autism, susceptibility to, 16
|
|
autism, susceptibility to, 17
|
|
autism, susceptibility to, 19
|
|
autism, susceptibility to, 20
|
|
autism, susceptibility to, 5
|
|
autism, susceptibility to, 9
|
|
autism, susceptibility to, X-linked 1
|
|
autism, susceptibility to, X-linked 2
|
|
autism, susceptibility to, X-linked 3
|
|
autism, susceptibility to, X-linked 4
|
|
autism, susceptibility to, X-linked 5
|
|
autism, susceptiblity to
|
|
autoimmune bullous skin disease
|
|
autoimmune disease
|
|
autoimmune disease, multisystem, infantile-onset
|
|
autoimmune disease, multisystem, infantile-onset, 2
|
|
autoimmune disease, multisystem, infantile-onset, 3
|
|
autoimmune disease, susceptibility to, 1
|
|
autoimmune disease, susceptibility to, 6
|
|
autoimmune disorder of blood
|
|
autoimmune disorder of cardiovascular system
|
|
autoimmune disorder of central nervous system
|
|
autoimmune disorder of endocrine system
|
|
autoimmune disorder of gastrointestinal tract
|
|
autoimmune disorder of musculoskeletal system
|
|
autoimmune disorder of peripheral nervous system
|
|
autoimmune disorder of the nervous system
|
|
autoimmune enteropathy
|
|
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
|
|
autoimmune hemolytic anemia
|
|
autoimmune hypoparathyroidism
|
|
autoimmune interstitial lung disease-arthritis syndrome
|
|
autoimmune lymphoproliferative syndrome
|
|
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
|
|
autoimmune lymphoproliferative syndrome type 1
|
|
autoimmune lymphoproliferative syndrome type 2A
|
|
autoimmune lymphoproliferative syndrome type 2B
|
|
autoimmune lymphoproliferative syndrome type 4
|
|
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
|
|
autoimmune polyendocrine syndrome type 1
|
|
autoimmune polyendocrinopathy
|
|
autoimmune pulmonary alveolar proteinosis
|
|
autoimmune thrombocytopenia
|
|
autoimmune thrombocytopenic purpura
|
|
autoimmune thyroid disease
|
|
autoimmune thyroid disease, susceptibility to
|
|
autoimmune thyroid disease, susceptibility to, 3
|
|
autoinflammation with arthritis and dyskeratosis
|
|
autoinflammation with episodic fever and lymphadenopathy
|
|
autoinflammation with pulmonary and cutaneous vasculitis
|
|
autoinflammation, immune dysregulation, and eosinophilia
|
|
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
|
|
autoinflammatory disease, X-linked
|
|
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
|
|
autoinflammatory disease, systemic, with vasculitis
|
|
autoinflammatory syndrome
|
|
autoinflammatory syndrome of childhood
|
|
autoinflammatory syndrome with immunodeficiency
|
|
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
|
|
autoinflammatory syndrome, familial, Behcet-like
|
|
autoinflammatory syndrome, familial, Behcet-like 1
|
|
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
|
|
autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
|
|
autonomic nervous system disorder
|
|
autonomic nervous system neoplasm
|
|
autosomal agammaglobulinemia
|
|
autosomal anomaly
|
|
autosomal dominant Alport syndrome
|
|
autosomal dominant Charcot-Marie-Tooth disease type 2K
|
|
autosomal dominant Charcot-Marie-Tooth disease type 2M
|
|
autosomal dominant Charcot-Marie-Tooth disease type 2W
|
|
autosomal dominant Ehlers-Danlos syndrome, vascular type
|
|
autosomal dominant Emery-Dreifuss muscular dystrophy
|
|
autosomal dominant Kenny-Caffey syndrome
|
|
autosomal dominant Parkinson disease 1
|
|
autosomal dominant Parkinson disease 4
|
|
autosomal dominant Parkinson disease 8
|
|
autosomal dominant Robinow syndrome
|
|
autosomal dominant Robinow syndrome 1
|
|
autosomal dominant Robinow syndrome 2
|
|
autosomal dominant Robinow syndrome 3
|
|
autosomal dominant aplasia and myelodysplasia
|
|
autosomal dominant auditory neuropathy 1
|
|
autosomal dominant brachyolmia
|
|
autosomal dominant centronuclear myopathy
|
|
autosomal dominant cerebellar ataxia
|
|
autosomal dominant cerebellar ataxia type I
|
|
autosomal dominant cerebellar ataxia type II
|
|
autosomal dominant cerebellar ataxia type III
|
|
autosomal dominant cerebellar ataxia type IV
|
|
autosomal dominant cerebellar ataxia, deafness and narcolepsy
|
|
autosomal dominant childhood-onset proximal spinal muscular atrophy
|
|
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
|
|
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
|
|
autosomal dominant chondrodysplasia punctata
|
|
autosomal dominant complex spastic paraplegia
|
|
autosomal dominant cutis laxa
|
|
autosomal dominant deafness - onychodystrophy syndrome
|
|
autosomal dominant disease
|
|
autosomal dominant distal myopathy
|
|
autosomal dominant distal renal tubular acidosis
|
|
autosomal dominant epidermolytic ichthyosis
|
|
autosomal dominant epilepsy with auditory features
|
|
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
|
autosomal dominant familial periodic fever
|
|
autosomal dominant hyperinsulinism due to Kir6.2 deficiency
|
|
autosomal dominant hyperinsulinism due to SUR1 deficiency
|
|
autosomal dominant hypocalcemia
|
|
autosomal dominant hypocalcemia 1
|
|
autosomal dominant hypocalcemia 2
|
|
autosomal dominant hypohidrotic ectodermal dysplasia
|
|
autosomal dominant hypophosphatemic rickets
|
|
autosomal dominant ichthyosis vulgaris
|
|
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
|
|
autosomal dominant intermediate Charcot-Marie-Tooth disease
|
|
autosomal dominant keratitis
|
|
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
|
|
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
|
|
autosomal dominant limb-girdle muscular dystrophy type 1F
|
|
autosomal dominant limb-girdle muscular dystrophy type 1G
|
|
autosomal dominant macrothrombocytopenia
|
|
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
|
|
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
|
|
autosomal dominant mitochondrial myopathy with exercise intolerance
|
|
autosomal dominant nocturnal frontal lobe epilepsy
|
|
autosomal dominant nocturnal frontal lobe epilepsy 1
|
|
autosomal dominant nocturnal frontal lobe epilepsy 3
|
|
autosomal dominant nocturnal frontal lobe epilepsy 4
|
|
autosomal dominant nocturnal frontal lobe epilepsy 5
|
|
autosomal dominant non-syndromic intellectual disability
|
|
autosomal dominant nonsyndromic hearing loss
|
|
autosomal dominant nonsyndromic hearing loss 1
|
|
autosomal dominant nonsyndromic hearing loss 10
|
|
autosomal dominant nonsyndromic hearing loss 11
|
|
autosomal dominant nonsyndromic hearing loss 12
|
|
autosomal dominant nonsyndromic hearing loss 13
|
|
autosomal dominant nonsyndromic hearing loss 15
|
|
autosomal dominant nonsyndromic hearing loss 16
|
|
autosomal dominant nonsyndromic hearing loss 17
|
|
autosomal dominant nonsyndromic hearing loss 20
|
|
autosomal dominant nonsyndromic hearing loss 21
|
|
autosomal dominant nonsyndromic hearing loss 22
|
|
autosomal dominant nonsyndromic hearing loss 23
|
|
autosomal dominant nonsyndromic hearing loss 25
|
|
autosomal dominant nonsyndromic hearing loss 27
|
|
autosomal dominant nonsyndromic hearing loss 28
|
|
autosomal dominant nonsyndromic hearing loss 2A
|
|
autosomal dominant nonsyndromic hearing loss 2B
|
|
autosomal dominant nonsyndromic hearing loss 33
|
|
autosomal dominant nonsyndromic hearing loss 36
|
|
autosomal dominant nonsyndromic hearing loss 3A
|
|
autosomal dominant nonsyndromic hearing loss 3B
|
|
autosomal dominant nonsyndromic hearing loss 40
|
|
autosomal dominant nonsyndromic hearing loss 41
|
|
autosomal dominant nonsyndromic hearing loss 44
|
|
autosomal dominant nonsyndromic hearing loss 48
|
|
autosomal dominant nonsyndromic hearing loss 4A
|
|
autosomal dominant nonsyndromic hearing loss 4B
|
|
autosomal dominant nonsyndromic hearing loss 5
|
|
autosomal dominant nonsyndromic hearing loss 50
|
|
autosomal dominant nonsyndromic hearing loss 51
|
|
autosomal dominant nonsyndromic hearing loss 56
|
|
autosomal dominant nonsyndromic hearing loss 6
|
|
autosomal dominant nonsyndromic hearing loss 64
|
|
autosomal dominant nonsyndromic hearing loss 65
|
|
autosomal dominant nonsyndromic hearing loss 66
|
|
autosomal dominant nonsyndromic hearing loss 67
|
|
autosomal dominant nonsyndromic hearing loss 68
|
|
autosomal dominant nonsyndromic hearing loss 69
|
|
autosomal dominant nonsyndromic hearing loss 7
|
|
autosomal dominant nonsyndromic hearing loss 70
|
|
autosomal dominant nonsyndromic hearing loss 9
|
|
autosomal dominant omodysplasia
|
|
autosomal dominant optic atrophy
|
|
autosomal dominant optic atrophy plus syndrome
|
|
autosomal dominant optic atrophy, classic form
|
|
autosomal dominant osteopetrosis
|
|
autosomal dominant osteopetrosis 1
|
|
autosomal dominant osteopetrosis 2
|
|
autosomal dominant osteosclerosis, Worth type
|
|
autosomal dominant palmoplantar keratoderma and congenital alopecia
|
|
autosomal dominant polycystic kidney disease
|
|
autosomal dominant polycystic liver disease
|
|
autosomal dominant popliteal pterygium syndrome
|
|
autosomal dominant primary microcephaly
|
|
autosomal dominant prognathism
|
|
autosomal dominant progressive external ophthalmoplegia
|
|
autosomal dominant pseudohypoaldosteronism type 1
|
|
autosomal dominant rhegmatogenous retinal detachment
|
|
autosomal dominant sensory ataxia 1
|
|
autosomal dominant severe congenital neutropenia
|
|
autosomal dominant sideroblastic anemia
|
|
autosomal dominant slowed nerve conduction velocity
|
|
autosomal dominant spastic ataxia
|
|
autosomal dominant spastic paraplegia type 9
|
|
autosomal dominant striatal neurodegeneration type 1
|
|
autosomal dominant titinopathy
|
|
autosomal dominant vibratory urticaria
|
|
autosomal dominant vitreoretinochoroidopathy
|
|
autosomal dominant wooly hair
|
|
autosomal erythropoietic protoporphyria
|
|
autosomal genetic disease
|
|
autosomal recessive Alport syndrome
|
|
autosomal recessive Kenny-Caffey syndrome
|
|
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
|
|
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
|
|
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
|
|
autosomal recessive Parkinson disease 14
|
|
autosomal recessive Robinow syndrome
|
|
autosomal recessive agammaglobulinemia 1
|
|
autosomal recessive amelia
|
|
autosomal recessive ataxia due to ubiquinone deficiency
|
|
autosomal recessive ataxia, Beauce type
|
|
autosomal recessive bestrophinopathy
|
|
autosomal recessive brachyolmia
|
|
autosomal recessive centronuclear myopathy
|
|
autosomal recessive cerebellar ataxia
|
|
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
|
|
autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
|
|
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
|
|
autosomal recessive complex spastic paraplegia type 9B
|
|
autosomal recessive congenital cerebellar ataxia
|
|
autosomal recessive congenital ichthyosis
|
|
autosomal recessive congenital ichthyosis 1
|
|
autosomal recessive congenital ichthyosis 10
|
|
autosomal recessive congenital ichthyosis 11
|
|
autosomal recessive congenital ichthyosis 2
|
|
autosomal recessive congenital ichthyosis 3
|
|
autosomal recessive congenital ichthyosis 4A
|
|
autosomal recessive congenital ichthyosis 4B
|
|
autosomal recessive congenital ichthyosis 5
|
|
autosomal recessive congenital ichthyosis 6
|
|
autosomal recessive congenital ichthyosis 8
|
|
autosomal recessive congenital ichthyosis 9
|
|
autosomal recessive cutis laxa type 1
|
|
autosomal recessive cutis laxa type 2
|
|
autosomal recessive cutis laxa type 2A
|
|
autosomal recessive cutis laxa type 2B
|
|
autosomal recessive cutis laxa type 2C
|
|
autosomal recessive cutis laxa type 2D
|
|
autosomal recessive degenerative and progressive cerebellar ataxia
|
|
autosomal recessive disease
|
|
autosomal recessive distal renal tubular acidosis
|
|
autosomal recessive distal spinal muscular atrophy 1
|
|
autosomal recessive distal spinal muscular atrophy 2
|
|
autosomal recessive dyskeratosis congenita 4
|
|
autosomal recessive early-onset Parkinson disease 23
|
|
autosomal recessive early-onset Parkinson disease 6
|
|
autosomal recessive early-onset Parkinson disease 7
|
|
autosomal recessive familial Mediterranean fever
|
|
autosomal recessive hyper-IgE syndrome
|
|
autosomal recessive hypohidrotic ectodermal dysplasia
|
|
autosomal recessive hypophosphatemic rickets
|
|
autosomal recessive inherited pseudoxanthoma elasticum
|
|
autosomal recessive intermediate Charcot-Marie-Tooth disease
|
|
autosomal recessive juvenile Parkinson disease 2
|
|
autosomal recessive limb-girdle muscular dystrophy
|
|
autosomal recessive limb-girdle muscular dystrophy type 2A
|
|
autosomal recessive limb-girdle muscular dystrophy type 2B
|
|
autosomal recessive limb-girdle muscular dystrophy type 2C
|
|
autosomal recessive limb-girdle muscular dystrophy type 2D
|
|
autosomal recessive limb-girdle muscular dystrophy type 2E
|
|
autosomal recessive limb-girdle muscular dystrophy type 2F
|
|
autosomal recessive limb-girdle muscular dystrophy type 2G
|
|
autosomal recessive limb-girdle muscular dystrophy type 2H
|
|
autosomal recessive limb-girdle muscular dystrophy type 2I
|
|
autosomal recessive limb-girdle muscular dystrophy type 2J
|
|
autosomal recessive limb-girdle muscular dystrophy type 2K
|
|
autosomal recessive limb-girdle muscular dystrophy type 2L
|
|
autosomal recessive limb-girdle muscular dystrophy type 2M
|
|
autosomal recessive limb-girdle muscular dystrophy type 2N
|
|
autosomal recessive limb-girdle muscular dystrophy type 2O
|
|
autosomal recessive limb-girdle muscular dystrophy type 2P
|
|
autosomal recessive limb-girdle muscular dystrophy type 2Q
|
|
autosomal recessive limb-girdle muscular dystrophy type 2R1
|
|
autosomal recessive limb-girdle muscular dystrophy type 2T
|
|
autosomal recessive limb-girdle muscular dystrophy type 2U
|
|
autosomal recessive limb-girdle muscular dystrophy type 2W
|
|
autosomal recessive limb-girdle muscular dystrophy type 2X
|
|
autosomal recessive limb-girdle muscular dystrophy type 2Y
|
|
autosomal recessive limb-girdle muscular dystrophy type R18
|
|
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
|
|
autosomal recessive metabolic cerebellar ataxia
|
|
autosomal recessive multiple pterygium syndrome
|
|
autosomal recessive myogenic arthrogryposis multiplex congenita
|
|
autosomal recessive non-syndromic intellectual disability
|
|
autosomal recessive nonsyndromic hearing loss 101
|
|
autosomal recessive nonsyndromic hearing loss 102
|
|
autosomal recessive nonsyndromic hearing loss 103
|
|
autosomal recessive nonsyndromic hearing loss 104
|
|
autosomal recessive nonsyndromic hearing loss 12
|
|
autosomal recessive nonsyndromic hearing loss 15
|
|
autosomal recessive nonsyndromic hearing loss 16
|
|
autosomal recessive nonsyndromic hearing loss 18A
|
|
autosomal recessive nonsyndromic hearing loss 18B
|
|
autosomal recessive nonsyndromic hearing loss 1A
|
|
autosomal recessive nonsyndromic hearing loss 1B
|
|
autosomal recessive nonsyndromic hearing loss 2
|
|
autosomal recessive nonsyndromic hearing loss 21
|
|
autosomal recessive nonsyndromic hearing loss 22
|
|
autosomal recessive nonsyndromic hearing loss 23
|
|
autosomal recessive nonsyndromic hearing loss 24
|
|
autosomal recessive nonsyndromic hearing loss 25
|
|
autosomal recessive nonsyndromic hearing loss 26
|
|
autosomal recessive nonsyndromic hearing loss 28
|
|
autosomal recessive nonsyndromic hearing loss 29
|
|
autosomal recessive nonsyndromic hearing loss 3
|
|
autosomal recessive nonsyndromic hearing loss 30
|
|
autosomal recessive nonsyndromic hearing loss 31
|
|
autosomal recessive nonsyndromic hearing loss 32
|
|
autosomal recessive nonsyndromic hearing loss 35
|
|
autosomal recessive nonsyndromic hearing loss 36
|
|
autosomal recessive nonsyndromic hearing loss 37
|
|
autosomal recessive nonsyndromic hearing loss 39
|
|
autosomal recessive nonsyndromic hearing loss 4
|
|
autosomal recessive nonsyndromic hearing loss 42
|
|
autosomal recessive nonsyndromic hearing loss 44
|
|
autosomal recessive nonsyndromic hearing loss 48
|
|
autosomal recessive nonsyndromic hearing loss 49
|
|
autosomal recessive nonsyndromic hearing loss 53
|
|
autosomal recessive nonsyndromic hearing loss 59
|
|
autosomal recessive nonsyndromic hearing loss 6
|
|
autosomal recessive nonsyndromic hearing loss 61
|
|
autosomal recessive nonsyndromic hearing loss 63
|
|
autosomal recessive nonsyndromic hearing loss 66
|
|
autosomal recessive nonsyndromic hearing loss 67
|
|
autosomal recessive nonsyndromic hearing loss 68
|
|
autosomal recessive nonsyndromic hearing loss 7
|
|
autosomal recessive nonsyndromic hearing loss 70
|
|
autosomal recessive nonsyndromic hearing loss 74
|
|
autosomal recessive nonsyndromic hearing loss 76
|
|
autosomal recessive nonsyndromic hearing loss 77
|
|
autosomal recessive nonsyndromic hearing loss 79
|
|
autosomal recessive nonsyndromic hearing loss 8
|
|
autosomal recessive nonsyndromic hearing loss 84A
|
|
autosomal recessive nonsyndromic hearing loss 84B
|
|
autosomal recessive nonsyndromic hearing loss 86
|
|
autosomal recessive nonsyndromic hearing loss 88
|
|
autosomal recessive nonsyndromic hearing loss 89
|
|
autosomal recessive nonsyndromic hearing loss 9
|
|
autosomal recessive nonsyndromic hearing loss 91
|
|
autosomal recessive nonsyndromic hearing loss 93
|
|
autosomal recessive nonsyndromic hearing loss 97
|
|
autosomal recessive nonsyndromic hearing loss 98
|
|
autosomal recessive ocular albinism
|
|
autosomal recessive omodysplasia
|
|
autosomal recessive optic atrophy, OPA7 type
|
|
autosomal recessive osteopetrosis
|
|
autosomal recessive osteopetrosis 1
|
|
autosomal recessive osteopetrosis 2
|
|
autosomal recessive osteopetrosis 3
|
|
autosomal recessive osteopetrosis 4
|
|
autosomal recessive osteopetrosis 5
|
|
autosomal recessive osteopetrosis 6
|
|
autosomal recessive osteopetrosis 7
|
|
autosomal recessive osteopetrosis 8
|
|
autosomal recessive polycystic kidney disease
|
|
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
|
|
autosomal recessive primary microcephaly
|
|
autosomal recessive progressive external ophthalmoplegia
|
|
autosomal recessive proximal renal tubular acidosis
|
|
autosomal recessive pseudohypoaldosteronism type 1
|
|
autosomal recessive severe congenital neutropenia
|
|
autosomal recessive severe congenital neutropenia due to CSF3R deficiency
|
|
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
|
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
|
|
autosomal recessive sideroblastic anemia
|
|
autosomal recessive spastic ataxia
|
|
autosomal recessive spastic paraplegia type 76
|
|
autosomal recessive spastic paraplegia type 78
|
|
autosomal recessive spinocerebellar ataxia 10
|
|
autosomal recessive spinocerebellar ataxia 11
|
|
autosomal recessive spinocerebellar ataxia 12
|
|
autosomal recessive spinocerebellar ataxia 13
|
|
autosomal recessive spinocerebellar ataxia 14
|
|
autosomal recessive spinocerebellar ataxia 15
|
|
autosomal recessive spinocerebellar ataxia 16
|
|
autosomal recessive spinocerebellar ataxia 17
|
|
autosomal recessive spinocerebellar ataxia 18
|
|
autosomal recessive spinocerebellar ataxia 2
|
|
autosomal recessive spinocerebellar ataxia 20
|
|
autosomal recessive spinocerebellar ataxia 7
|
|
autosomal recessive spondylocostal dysostosis
|
|
autosomal recessive spondylometaphyseal dysplasia, Megarbane type
|
|
autosomal recessive syndromic cerebellar ataxia
|
|
autosomal recessive titinopathy
|
|
autosomal systemic lupus erythematosus type 16
|
|
avascular necrosis
|
|
avascular necrosis of femoral head, primary, 1
|
|
avascular necrosis of femoral head, primary, 2
|
|
axial spondylometaphyseal dysplasia
|
|
axonal neuropathy
|
|
azoospermia
|
|
azoospermia, obstructive, with nephrolithiasis
|
|
bacteremia, susceptibility
|
|
bacteremia, susceptibility to, 1
|
|
bacteremia, susceptibility to, 2
|
|
bacterial infectious disease
|
|
band heterotopia of brain
|
|
bardet-biedl syndrome 21
|
|
basal cell carcinoma
|
|
basal cell carcinoma, susceptibility to
|
|
basal cell carcinoma, susceptibility to, 1
|
|
basal cell carcinoma, susceptibility to, 7
|
|
basal cell neoplasm
|
|
basal cell nevus syndrome 1
|
|
basal cell nevus syndrome 2
|
|
basal ganglia calcification, idiopathic, 1
|
|
basal ganglia calcification, idiopathic, 4
|
|
basal ganglia calcification, idiopathic, 5
|
|
basal ganglia calcification, idiopathic, 6
|
|
basal ganglia calcification, idiopathic, 7, autosomal recessive
|
|
basal ganglia calcification, idiopathic, 8, autosomal recessive
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
|
basal ganglia disorder
|
|
basal laminar drusen
|
|
behavioral variant of frontotemporal dementia
|
|
benign PEComa
|
|
benign adult familial myoclonic epilepsy
|
|
benign blood vessel neoplasm
|
|
benign choroid plexus neoplasm
|
|
benign concentric annular macular dystrophy
|
|
benign connective and soft tissue neoplasm
|
|
benign digestive system neoplasm
|
|
benign endocrine neoplasm
|
|
benign epithelial neoplasm
|
|
benign epithelial skin neoplasm
|
|
benign essential blepharospasm
|
|
benign eyelid neoplasm
|
|
benign familial infantile epilepsy
|
|
benign familial neonatal-infantile seizures 1
|
|
benign female reproductive system neoplasm
|
|
benign lipomatous neoplasm
|
|
benign muscle neoplasm
|
|
benign neonatal seizures
|
|
benign neoplasm
|
|
benign neoplasm of adrenal gland
|
|
benign neoplasm of brain
|
|
benign neoplasm of cerebellum
|
|
benign neoplasm of cerebrum
|
|
benign neoplasm of corpus uteri
|
|
benign neoplasm of eye
|
|
benign neoplasm of heart
|
|
benign neoplasm of parathyroid gland
|
|
benign neoplasm of retina
|
|
benign neoplasm of skin
|
|
benign partial infantile seizures
|
|
benign peripheral nerve sheath tumor
|
|
benign perivascular tumor
|
|
benign recurrent intrahepatic cholestasis
|
|
benign recurrent intrahepatic cholestasis type 1
|
|
benign recurrent intrahepatic cholestasis type 2
|
|
benign reproductive system neoplasm
|
|
benign smooth muscle neoplasm
|
|
benign soft tissue neoplasm
|
|
benign thyroid gland neoplasm
|
|
benign tumor of palpebral epidermis
|
|
benign urinary system neoplasm
|
|
bent bone dysplasia
|
|
bent bone dysplasia syndrome 1
|
|
bent bone dysplasia syndrome 2
|
|
beta thalassemia
|
|
beta-aminoisobutyric acid, urinary excretion of
|
|
beta-ketothiolase deficiency
|
|
beta-mannosidosis
|
|
beta-thalassemia HBB/LCRB
|
|
beta-thalassemia and related diseases
|
|
beta-thalassemia major
|
|
beta-thalassemia-X-linked thrombocytopenia syndrome
|
|
beta-ureidopropionase deficiency
|
|
bifid nose
|
|
bifid nose, autosomal recessive
|
|
bifid uvula
|
|
bilateral breast carcinoma
|
|
bilateral frontal polymicrogyria
|
|
bilateral frontoparietal polymicrogyria
|
|
bilateral generalized polymicrogyria
|
|
bilateral microtia-deafness-cleft palate syndrome
|
|
bilateral parasagittal parieto-occipital polymicrogyria
|
|
bilateral perisylvian polymicrogyria
|
|
bilateral polymicrogyria
|
|
bilateral renal agenesis
|
|
bilateral striopallidodentate calcinosis
|
|
bile acid conjugation defect 1
|
|
bile acid malabsorption, primary, 1
|
|
bile acid malabsorption, primary, 2
|
|
bile duct adenocarcinoma
|
|
bile duct cancer
|
|
bile duct carcinoma
|
|
bile duct disorder
|
|
bile duct neoplasm
|
|
biliary tract cancer
|
|
biliary tract disorder
|
|
biliary tract neoplasm
|
|
biliary, renal, neurologic, and skeletal syndrome
|
|
bilirubin metabolism disease
|
|
biotin metabolic disease
|
|
biotin-responsive basal ganglia disease
|
|
biotinidase deficiency
|
|
bipolar disorder
|
|
bladder diverticulum
|
|
bladder exstrophy
|
|
bladder exstrophy-epispadias-cloacal extrophy complex
|
|
bladder transitional cell carcinoma
|
|
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 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 glioma
|
|
brain hemangioma
|
|
brain ischemia
|
|
brain malformations with or without urinary tract defects
|
|
brain neoplasm
|
|
brain small vessel disease 1 with or without ocular anomalies
|
|
brain small vessel disease 3
|
|
brain stem glioma
|
|
brain-lung-thyroid syndrome
|
|
brainstem cancer
|
|
brainstem neoplasm
|
|
branched-chain keto acid dehydrogenase kinase deficiency
|
|
branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
|
|
branchial arch disease
|
|
branchio-oto-renal syndrome
|
|
branchiooculofacial syndrome
|
|
branchiootic syndrome
|
|
branchiootic syndrome 1
|
|
branchiootic syndrome 3
|
|
branchiootorenal syndrome 1
|
|
branchiootorenal syndrome 2
|
|
breast adenocarcinoma
|
|
breast benign neoplasm
|
|
breast cancer
|
|
breast carcinoma
|
|
breast carcinoma by gene expression profile
|
|
breast carcinoma in situ
|
|
breast disorder
|
|
breast ductal adenocarcinoma
|
|
breast intraductal proliferative lesion
|
|
breast lobular carcinoma
|
|
breast neoplasm
|
|
breast-ovarian cancer, familial, susceptibility to
|
|
breast-ovarian cancer, familial, susceptibility to, 1
|
|
breast-ovarian cancer, familial, susceptibility to, 2
|
|
breast-ovarian cancer, familial, susceptibility to, 3
|
|
breast-ovarian cancer, familial, susceptibility to, 4
|
|
breast-ovarian cancer, familial, susceptibility to, 5
|
|
breasts and/or nipples, aplasia or hypoplasia of, 2
|
|
brittle cornea syndrome
|
|
brittle cornea syndrome 1
|
|
brittle cornea syndrome 2
|
|
bronchial disorder
|
|
bronchiectasis
|
|
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
|
|
brown-Vialetto-van Laere syndrome 2
|
|
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
|
|
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, 2c
|
|
cardiomyopathy, dilated, 2j
|
|
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
|
|
cardiomyopathy, familial hypertrophic 27
|
|
cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
|
|
cardiomyopathy, familial hypertrophic, 28
|
|
cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
|
|
cardiomyopathy, familial hypertrophic, 30, atrial
|
|
cardiomyopathy, familial hypertrophic, 4, susceptibility to
|
|
cardiomyopathy, familial restrictive, 1
|
|
cardiomyopathy, familial restrictive, 3
|
|
cardiomyopathy, familial restrictive, 5
|
|
cardiomyopathy, familial restrictive, 6
|
|
cardiomyopathy, infantile hypertrophic
|
|
cardiomyopathy-hypotonia-lactic acidosis syndrome
|
|
cardiospondylocarpofacial syndrome
|
|
cardiovascular cancer
|
|
cardiovascular disorder
|
|
cardiovascular neoplasm
|
|
cardiovascular organ benign neoplasm
|
|
carnitine acetyltransferase deficiency
|
|
carnitine palmitoyl transferase 1A deficiency
|
|
carnitine palmitoyl transferase II deficiency, myopathic form
|
|
carnitine palmitoyl transferase II deficiency, neonatal form
|
|
carnitine palmitoyl transferase II deficiency, severe infantile form
|
|
carnitine palmitoyltransferase II deficiency
|
|
carnitine-acylcarnitine translocase deficiency
|
|
carotid artery disorder
|
|
carotid artery dissection
|
|
carotid artery occlusion
|
|
carotid body paraganglioma
|
|
carotid stenosis
|
|
carpal tunnel syndrome
|
|
carpal tunnel syndrome 1
|
|
carpal tunnel syndrome 2
|
|
cartilage-hair hypoplasia
|
|
cat-eye syndrome
|
|
cataract
|
|
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
|
|
centra precocious puberty 1
|
|
central areolar choroidal dystrophy
|
|
central centrifugal cicatricial alopecia
|
|
central congenital hypothyroidism
|
|
central core myopathy
|
|
central diabetes insipidus
|
|
central hypoventilation syndrome, congenital
|
|
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
|
|
central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
|
|
central hypoventilation syndrome, congenital, 3
|
|
central nervous system cancer
|
|
central nervous system disorder
|
|
central nervous system hemangioma
|
|
central nervous system infectious disorder
|
|
central nervous system lipoma
|
|
central nervous system malformation
|
|
central nervous system neoplasm
|
|
central nervous system organ benign neoplasm
|
|
central nervous system sarcoma
|
|
central precocious puberty
|
|
central sleep apnea syndrome
|
|
centronuclear myopathy
|
|
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
|
|
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 malignant neoplasm
|
|
childhood neoplasm
|
|
childhood onset GLUT1 deficiency syndrome 2
|
|
childhood-onset autosomal recessive myopathy with external ophthalmoplegia
|
|
childhood-onset epilepsy syndrome
|
|
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
|
|
childhood-onset nemaline myopathy
|
|
childhood-onset schizophrenia
|
|
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
|
|
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
|
|
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 cancer
|
|
choroid neoplasm
|
|
choroid plexus cancer
|
|
choroid plexus carcinoma
|
|
choroid plexus neoplasm
|
|
choroid plexus papilloma
|
|
choroidal dystrophy, central areolar 2
|
|
choroidal dystrophy, central areolar, 1
|
|
choroidal neovascularization
|
|
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 16q22 deletion syndrome
|
|
chromosome 17 disorder
|
|
chromosome 17P13.3, telomeric, duplication syndrome
|
|
chromosome 17p deletion
|
|
chromosome 17p13.1 deletion syndrome
|
|
chromosome 17p13.3 duplication syndrome
|
|
chromosome 17q11.2 deletion syndrome, 1.4Mb
|
|
chromosome 17q12 deletion syndrome
|
|
chromosome 17q12 duplication syndrome
|
|
chromosome 18 disorder
|
|
chromosome 18p deletion syndrome
|
|
chromosome 18q deletion syndrome
|
|
chromosome 19 disorder
|
|
chromosome 19p13.13 deletion syndrome
|
|
chromosome 19q13.11 deletion syndrome
|
|
chromosome 19q13.11 deletion syndrome, distal
|
|
chromosome 1p32-p31 deletion syndrome
|
|
chromosome 1p36 deletion syndrome
|
|
chromosome 1p36 deletion syndrome, proximal
|
|
chromosome 1q deletion
|
|
chromosome 1q21.1 deletion syndrome
|
|
chromosome 1q21.1 duplication syndrome
|
|
chromosome 1q41-q42 deletion syndrome
|
|
chromosome 2 disorder
|
|
chromosome 20 disorder
|
|
chromosome 21 disorder
|
|
chromosome 22q deletion
|
|
chromosome 22q11.2 deletion syndrome, distal
|
|
chromosome 22q11.2 microduplication syndrome
|
|
chromosome 22q13 duplication syndrome
|
|
chromosome 2p16.1-p15 deletion syndrome
|
|
chromosome 2p16.3 deletion syndrome
|
|
chromosome 2q32-q33 deletion syndrome
|
|
chromosome 3 disorder
|
|
chromosome 3q13.31 deletion syndrome
|
|
chromosome 3q29 microdeletion syndrome
|
|
chromosome 4 disorder
|
|
chromosome 4 short arm deletion
|
|
chromosome 4q21 deletion syndrome
|
|
chromosome 5 disorder
|
|
chromosome 5Q14.3 deletion syndrome, distal
|
|
chromosome 5p13 duplication syndrome
|
|
chromosome 6 disorder
|
|
chromosome 6q11-q14 deletion syndrome
|
|
chromosome 6q24-q25 deletion syndrome
|
|
chromosome 7 disorder
|
|
chromosome 8 disorder
|
|
chromosome 8q21.11 deletion syndrome
|
|
chromosome 9 disorder
|
|
chromosome 9p deletion syndrome
|
|
chromosome X disorder
|
|
chromosome Xp11.22 duplication syndrome
|
|
chromosome Xp21 deletion syndrome
|
|
chromosome Xq28 duplication syndrome
|
|
chromosome Y disorder
|
|
chronic atrial and intestinal dysrhythmia
|
|
chronic cutaneous lupus erythematosus
|
|
chronic diarrheal disease
|
|
chronic gastritis
|
|
chronic granulomatous disease
|
|
chronic intestinal pseudoobstruction
|
|
chronic kidney disease
|
|
chronic leukemia
|
|
chronic mucocutaneous candidiasis
|
|
chronic myelogenous leukemia, BCR-ABL1 positive
|
|
chronic myelomonocytic leukemia
|
|
chronic obstructive pulmonary disease
|
|
chronic otitis media
|
|
chronic pancreatitis
|
|
chronic periodontitis
|
|
chronic primary adrenal insufficiency
|
|
chronic progressive multiple sclerosis
|
|
chronic pulmonary heart disease
|
|
chronic recurrent multifocal osteomyelitis
|
|
chronic recurrent multifocal osteomyelitis 3
|
|
chronic rhinosinusitis
|
|
chylomicron retention disease
|
|
ciliary dyskinesia, primary, 36, X-linked
|
|
ciliary dyskinesia, primary, 37
|
|
ciliary dyskinesia, primary, 38
|
|
ciliary dyskinesia, primary, 39
|
|
ciliary dyskinesia, primary, 40
|
|
ciliary dyskinesia, primary, 41
|
|
ciliary dyskinesia, primary, 42
|
|
ciliary dyskinesia, primary, 43
|
|
ciliary dyskinesia, primary, 44
|
|
ciliary dyskinesia, primary, 45
|
|
ciliary dyskinesia, primary, 46
|
|
ciliary dyskinesia, primary, 47, and lissencephaly
|
|
ciliary dyskinesia, primary, 48, without situs inversus
|
|
ciliary dyskinesia, primary, 49, without situs inversus
|
|
ciliary dyskinesia, primary, 50
|
|
ciliary dyskinesia, primary, 51
|
|
ciliary dyskinesia, primary, 52
|
|
ciliary dyskinesia, primary, 53
|
|
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/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 iris
|
|
coloboma of optic nerve
|
|
coloboma, ocular, autosomal dominant
|
|
coloboma, ocular, autosomal recessive
|
|
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
|
|
colobomatous microphthalmia-rhizomelic dysplasia syndrome
|
|
colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
|
|
colon adenocarcinoma
|
|
colon adenoma
|
|
colon carcinoma
|
|
colon serrated polyposis
|
|
colonic disorder
|
|
colonic neoplasm
|
|
color vision disorder
|
|
colorblindness, partial
|
|
colorectal adenocarcinoma
|
|
colorectal adenoma
|
|
colorectal cancer
|
|
colorectal cancer, hereditary nonpolyposis, type 6
|
|
colorectal cancer, hereditary nonpolyposis, type 7
|
|
colorectal cancer, susceptibility to, 1
|
|
colorectal cancer, susceptibility to, 10
|
|
colorectal cancer, susceptibility to, 12
|
|
colorectal cancer, susceptibility to, 3
|
|
colorectal carcinoma
|
|
colorectal neoplasm
|
|
combined PSAP deficiency
|
|
combined deficiency of factor V and factor VIII
|
|
combined dystonia
|
|
combined immunodeficiency
|
|
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
|
|
combined immunodeficiency due to CD3gamma deficiency
|
|
combined immunodeficiency due to CRAC channel dysfunction
|
|
combined immunodeficiency due to DOCK8 deficiency
|
|
combined immunodeficiency due to GINS1 deficiency
|
|
combined immunodeficiency due to LRBA deficiency
|
|
combined immunodeficiency due to MALT1 deficiency
|
|
combined immunodeficiency due to ORAI1 deficiency
|
|
combined immunodeficiency due to OX40 deficiency
|
|
combined immunodeficiency due to STIM1 deficiency
|
|
combined immunodeficiency due to STK4 deficiency
|
|
combined immunodeficiency due to ZAP70 deficiency
|
|
combined immunodeficiency due to moesin deficiency
|
|
combined immunodeficiency due to partial RAG1 deficiency
|
|
combined immunodeficiency with faciooculoskeletal anomalies
|
|
combined immunodeficiency with skin granulomas
|
|
combined immunodeficiency, X-linked
|
|
combined low LDL and fibrinogen
|
|
combined malonic and methylmalonic acidemia
|
|
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
|
|
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
|
|
combined oxidative phosphorylation defect type 11
|
|
combined oxidative phosphorylation defect type 13
|
|
combined oxidative phosphorylation defect type 14
|
|
combined oxidative phosphorylation defect type 15
|
|
combined oxidative phosphorylation defect type 17
|
|
combined oxidative phosphorylation defect type 2
|
|
combined oxidative phosphorylation defect type 20
|
|
combined oxidative phosphorylation defect type 21
|
|
combined oxidative phosphorylation defect type 23
|
|
combined oxidative phosphorylation defect type 24
|
|
combined oxidative phosphorylation defect type 25
|
|
combined oxidative phosphorylation defect type 26
|
|
combined oxidative phosphorylation defect type 27
|
|
combined oxidative phosphorylation defect type 30
|
|
combined oxidative phosphorylation defect type 4
|
|
combined oxidative phosphorylation defect type 7
|
|
combined oxidative phosphorylation defect type 8
|
|
combined oxidative phosphorylation defect type 9
|
|
combined oxidative phosphorylation deficiency
|
|
combined oxidative phosphorylation deficiency 19
|
|
combined oxidative phosphorylation deficiency 22
|
|
combined oxidative phosphorylation deficiency 28
|
|
combined oxidative phosphorylation deficiency 29
|
|
combined oxidative phosphorylation deficiency 32
|
|
combined oxidative phosphorylation deficiency 33
|
|
combined oxidative phosphorylation deficiency 34
|
|
combined oxidative phosphorylation deficiency 35
|
|
combined oxidative phosphorylation deficiency 36
|
|
combined oxidative phosphorylation deficiency 37
|
|
combined oxidative phosphorylation deficiency 38
|
|
combined oxidative phosphorylation deficiency 39
|
|
combined oxidative phosphorylation deficiency 40
|
|
combined oxidative phosphorylation deficiency 41
|
|
combined oxidative phosphorylation deficiency 42
|
|
combined oxidative phosphorylation deficiency 43
|
|
combined oxidative phosphorylation deficiency 44
|
|
combined oxidative phosphorylation deficiency 45
|
|
combined oxidative phosphorylation deficiency 46
|
|
combined oxidative phosphorylation deficiency 47
|
|
combined oxidative phosphorylation deficiency 48
|
|
combined oxidative phosphorylation deficiency 49
|
|
combined oxidative phosphorylation deficiency 50
|
|
combined oxidative phosphorylation deficiency 51
|
|
combined oxidative phosphorylation deficiency 52
|
|
combined oxidative phosphorylation deficiency 53
|
|
combined oxidative phosphorylation deficiency 54
|
|
combined oxidative phosphorylation deficiency 55
|
|
combined oxidative phosphorylation deficiency 56
|
|
combined oxidative phosphorylation deficiency 57
|
|
combined oxidative phosphorylation deficiency 59
|
|
combined pituitary hormone deficiencies, genetic form
|
|
combined pulmonary fibrosis-emphysema syndrome
|
|
common variable immunodeficiency
|
|
communicating hydrocephalus
|
|
communication disorder
|
|
complement component 2 deficiency
|
|
complement component 3 deficiency
|
|
complement component 4a deficiency
|
|
complement component 4b deficiency
|
|
complement component 5 deficiency
|
|
complement component 6 deficiency
|
|
complement component 7 deficiency
|
|
complement component 9 deficiency
|
|
complement component C1s deficiency
|
|
complement deficiency
|
|
complement factor H deficiency
|
|
complement factor I deficiency
|
|
complement factor b deficiency
|
|
complete androgen insensitivity syndrome
|
|
complete hydatidiform mole
|
|
complex cortical dysplasia with other brain malformations
|
|
complex cortical dysplasia with other brain malformations 1
|
|
complex cortical dysplasia with other brain malformations 2
|
|
complex cortical dysplasia with other brain malformations 3
|
|
complex cortical dysplasia with other brain malformations 4
|
|
complex cortical dysplasia with other brain malformations 5
|
|
complex cortical dysplasia with other brain malformations 6
|
|
complex cortical dysplasia with other brain malformations 7
|
|
complex hereditary spastic paraplegia
|
|
complex lethal osteochondrodysplasia
|
|
complex neurodevelopmental disorder
|
|
complex neurodevelopmental disorder with motor features
|
|
conduction system disorder
|
|
cone dystrophy
|
|
cone dystrophy 1, X-linked
|
|
cone dystrophy 3
|
|
cone dystrophy 4
|
|
cone dystrophy 5, X-linked
|
|
cone dystrophy with supernormal rod response
|
|
cone-rod dystrophy
|
|
cone-rod dystrophy 10
|
|
cone-rod dystrophy 11
|
|
cone-rod dystrophy 12
|
|
cone-rod dystrophy 13
|
|
cone-rod dystrophy 15
|
|
cone-rod dystrophy 16
|
|
cone-rod dystrophy 18
|
|
cone-rod dystrophy 19
|
|
cone-rod dystrophy 2
|
|
cone-rod dystrophy 20
|
|
cone-rod dystrophy 21
|
|
cone-rod dystrophy 22
|
|
cone-rod dystrophy 24
|
|
cone-rod dystrophy 3
|
|
cone-rod dystrophy 5
|
|
cone-rod dystrophy 6
|
|
cone-rod dystrophy 7
|
|
cone-rod dystrophy 9
|
|
cone-rod dystrophy and hearing loss
|
|
cone-rod dystrophy and hearing loss 1
|
|
cone-rod dystrophy and hearing loss 2
|
|
cone-rod synaptic disorder syndrome, congenital nonprogressive
|
|
cone-rod synaptic disorder, congenital nonprogressive
|
|
congenital T-cell immunodeficiency
|
|
congenital adrenal hyperplasia
|
|
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
|
|
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
|
|
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
|
|
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
|
|
congenital afibrinogenemia
|
|
congenital amegakaryocytic thrombocytopenia
|
|
congenital amegakaryocytic thrombocytopenia 1
|
|
congenital analbuminemia
|
|
congenital anemia
|
|
congenital anomalies of kidney and urinary tract 1
|
|
congenital anomalies of kidney and urinary tract 2
|
|
congenital anomalies of kidney and urinary tract 3
|
|
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
|
|
congenital anomaly of cardiovascular system
|
|
congenital anomaly of kidney and urinary tract
|
|
congenital anomaly of the great arteries
|
|
congenital aortic valve stenosis
|
|
congenital bilateral absence of vas deferens
|
|
congenital bilateral aplasia of vas deferens from CFTR mutation
|
|
congenital bile acid synthesis defect
|
|
congenital bile acid synthesis defect 1
|
|
congenital bile acid synthesis defect 2
|
|
congenital bile acid synthesis defect 3
|
|
congenital bile acid synthesis defect 4
|
|
congenital bile acid synthesis defect 5
|
|
congenital bile acid synthesis defect 6
|
|
congenital brain dysgenesis due to glutamine synthetase deficiency
|
|
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
|
|
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
|
|
congenital cataracts-facial dysmorphism-neuropathy syndrome
|
|
congenital chylothorax
|
|
congenital contractural arachnodactyly
|
|
congenital contractures of the limbs and face, hypotonia, and developmental delay
|
|
congenital deformities of limbs
|
|
congenital diaphragmatic hernia
|
|
congenital diarrhea
|
|
congenital diarrhea 5 with tufting enteropathy
|
|
congenital diarrhea 6
|
|
congenital diarrhea 7 with exudative enteropathy
|
|
congenital disorder of deglycosylation
|
|
congenital disorder of deglycosylation 1
|
|
congenital disorder of deglycosylation 2
|
|
congenital disorder of glycosylation
|
|
congenital disorder of glycosylation type 1E
|
|
congenital disorder of glycosylation type I
|
|
congenital disorder of glycosylation type II
|
|
congenital disorder of glycosylation with defective fucosylation
|
|
congenital disorder of glycosylation with defective fucosylation 1
|
|
congenital disorder of glycosylation with defective fucosylation 2
|
|
congenital disorder of glycosylation, type 2v
|
|
congenital disorder of glycosylation, type IAA
|
|
congenital disorder of glycosylation, type ICC
|
|
congenital disorder of glycosylation, type IIbb
|
|
congenital disorder of glycosylation, type IIq
|
|
congenital disorder of glycosylation, type IIr
|
|
congenital disorder of glycosylation, type IIw
|
|
congenital disorder of glycosylation, type IIy
|
|
congenital disorder of glycosylation, type IIz
|
|
congenital disorder of glycosylation, type Ibb
|
|
congenital disorder of glycosylation, type Iw, autosomal dominant
|
|
congenital disorder of glycosylation, type iit
|
|
congenital dyserythropoietic anemia
|
|
congenital dyserythropoietic anemia type 1
|
|
congenital dyserythropoietic anemia type 2
|
|
congenital dyserythropoietic anemia type 3
|
|
congenital dyserythropoietic anemia type 4
|
|
congenital dyserythropoietic anemia type type 1B
|
|
congenital ectropion
|
|
congenital enteropathy due to enteropeptidase deficiency
|
|
congenital entropion
|
|
congenital factor V deficiency
|
|
congenital factor VII deficiency
|
|
congenital factor X deficiency
|
|
congenital factor XI deficiency
|
|
congenital factor XII deficiency
|
|
congenital factor XIII deficiency
|
|
congenital fiber-type disproportion myopathy
|
|
congenital fibrinogen deficiency
|
|
congenital fibrosarcoma
|
|
congenital fibrosis of extraocular muscles
|
|
congenital fibrosis of extraocular muscles type 1
|
|
congenital generalized lipodystrophy
|
|
congenital generalized lipodystrophy type 1
|
|
congenital generalized lipodystrophy type 2
|
|
congenital generalized lipodystrophy type 3
|
|
congenital generalized lipodystrophy type 4
|
|
congenital glaucoma
|
|
congenital heart defects and ectodermal dysplasia
|
|
congenital heart defects and skeletal malformations syndrome
|
|
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
|
|
congenital heart defects, multiple types
|
|
congenital heart defects, multiple types, 1, X-linked
|
|
congenital heart defects, multiple types, 2
|
|
congenital heart defects, multiple types, 3
|
|
congenital heart defects, multiple types, 4
|
|
congenital heart defects, multiple types, 5
|
|
congenital heart defects, multiple types, 6
|
|
congenital heart defects, multiple types, 7
|
|
congenital heart defects, multiple types, 8, with or without heterotaxy
|
|
congenital heart defects, multiple types, 9
|
|
congenital heart disease
|
|
congenital heart malformation
|
|
congenital hematological disorder
|
|
congenital hereditary endothelial dystrophy of cornea
|
|
congenital hereditary endothelial dystrophy type I
|
|
congenital hereditary facial paralysis-variable hearing loss syndrome
|
|
congenital high-molecular-weight kininogen deficiency
|
|
congenital hydrocephalus
|
|
congenital hypogonadotropic hypogonadism
|
|
congenital hypothalamic hamartoma syndrome
|
|
congenital hypothyroidism
|
|
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
|
|
congenital hypotrichosis with juvenile macular dystrophy
|
|
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
|
|
congenital insensitivity to pain-hypohidrosis syndrome
|
|
congenital isolated adrenocorticotropic hormone deficiency
|
|
congenital isolated hyperinsulinism
|
|
congenital lactase deficiency
|
|
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
|
|
congenital laryngomalacia
|
|
congenital left-sided heart lesions
|
|
congenital limb malformation
|
|
congenital lipoid adrenal hyperplasia due to STAR deficency
|
|
congenital malabsorptive diarrhea 4
|
|
congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
|
|
congenital merosin-deficient muscular dystrophy 1A
|
|
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
|
|
congenital microcoria
|
|
congenital mitral malformation
|
|
congenital mitral valve insufficiency and/or stenosis
|
|
congenital multicore myopathy with external ophthalmoplegia
|
|
congenital muscular dystrophy
|
|
congenital muscular dystrophy caused by variation in POMGNT2
|
|
congenital muscular dystrophy due to LMNA mutation
|
|
congenital muscular dystrophy due to integrin alpha-7 deficiency
|
|
congenital muscular dystrophy with cataracts and intellectual disability
|
|
congenital muscular dystrophy with intellectual disability and severe epilepsy
|
|
congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
|
|
congenital myasthenic syndrome
|
|
congenital myasthenic syndrome 10
|
|
congenital myasthenic syndrome 11
|
|
congenital myasthenic syndrome 12
|
|
congenital myasthenic syndrome 13
|
|
congenital myasthenic syndrome 14
|
|
congenital myasthenic syndrome 15
|
|
congenital myasthenic syndrome 16
|
|
congenital myasthenic syndrome 17
|
|
congenital myasthenic syndrome 18
|
|
congenital myasthenic syndrome 19
|
|
congenital myasthenic syndrome 1A
|
|
congenital myasthenic syndrome 20
|
|
congenital myasthenic syndrome 21
|
|
congenital myasthenic syndrome 2A
|
|
congenital myasthenic syndrome 2C
|
|
congenital myasthenic syndrome 3A
|
|
congenital myasthenic syndrome 3B
|
|
congenital myasthenic syndrome 3C
|
|
congenital myasthenic syndrome 4A
|
|
congenital myasthenic syndrome 4B
|
|
congenital myasthenic syndrome 4C
|
|
congenital myasthenic syndrome 5
|
|
congenital myasthenic syndrome 6
|
|
congenital myasthenic syndrome 7
|
|
congenital myasthenic syndrome 8
|
|
congenital myasthenic syndrome 9
|
|
congenital myasthenic syndrome with tubular aggregates
|
|
congenital myopathy
|
|
congenital myopathy 10b, mild variant
|
|
congenital myopathy 11
|
|
congenital myopathy 15
|
|
congenital myopathy 18
|
|
congenital myopathy 20
|
|
congenital myopathy 21 with early respiratory failure
|
|
congenital myopathy 22A, classic
|
|
congenital myopathy 22B, severe fetal
|
|
congenital myopathy 23
|
|
congenital myopathy 2b, severe infantile, autosomal recessive
|
|
congenital myopathy 2c, severe infantile, autosomal dominant
|
|
congenital myopathy 4A, autosomal dominant
|
|
congenital myopathy 4B, autosomal recessive
|
|
congenital myopathy 7A, myosin storage, autosomal dominant
|
|
congenital myopathy with internal nuclei and atypical cores
|
|
congenital myopathy with reduced type 2 muscle fibers
|
|
congenital nephrotic syndrome, Finnish type
|
|
congenital nervous system disorder
|
|
congenital neutropenia-myelofibrosis-nephromegaly syndrome
|
|
congenital non-bullous ichthyosiform erythroderma
|
|
congenital nongoitrous hypothryoidism 6
|
|
congenital nonspherocytic hemolytic anemia
|
|
congenital nystagmus
|
|
congenital plasminogen activator inhibitor type 1 deficiency
|
|
congenital primary aphakia
|
|
congenital prothrombin deficiency
|
|
congenital pulmonary valve stenosis
|
|
congenital pulmonary veins anomaly
|
|
congenital pulmonary venous return anomaly
|
|
congenital radioulnar synostosis
|
|
congenital reticular ichthyosiform erythroderma
|
|
congenital secondary polycythemia
|
|
congenital secretory chloride diarrhea 1
|
|
congenital secretory diarrhea
|
|
congenital secretory sodium diarrhea 3
|
|
congenital secretory sodium diarrhea 8
|
|
congenital short bowel syndrome
|
|
congenital short bowel syndrome, autosomal recessive
|
|
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
|
|
congenital smooth muscle hamartoma
|
|
congenital sodium diarrhea
|
|
congenital stationary night blindness
|
|
congenital stationary night blindness 1A
|
|
congenital stationary night blindness 1B
|
|
congenital stationary night blindness 1C
|
|
congenital stationary night blindness 1D
|
|
congenital stationary night blindness 1E
|
|
congenital stationary night blindness 1F
|
|
congenital stationary night blindness 1G
|
|
congenital stationary night blindness 1H
|
|
congenital stationary night blindness 2A
|
|
congenital stationary night blindness autosomal dominant 1
|
|
congenital stationary night blindness autosomal dominant 2
|
|
congenital stationary night blindness autosomal dominant 3
|
|
congenital stromal corneal dystrophy
|
|
congenital structural myopathy
|
|
congenital sucrase-isomaltase deficiency
|
|
congenital thrombotic thrombocytopenic purpura
|
|
congenital total pulmonary venous return anomaly
|
|
congenital tricuspid malformation
|
|
congenital urachal anomaly
|
|
congenital velopharyngeal incompetence
|
|
congenital vertebral-cardiac-renal anomalies syndrome
|
|
congenital vertical talus
|
|
congenital vitamin K-dependent coagulation factors deficiency
|
|
congenital vitreoretinal dysplasia
|
|
congenitally corrected transposition of the great arteries
|
|
congestive heart failure
|
|
connective and soft tissue neoplasm
|
|
connective tissue disorder
|
|
connective tissue neoplasm
|
|
conotruncal heart malformations
|
|
constipation disorder
|
|
constitutional megaloblastic anemia with severe neurologic disease
|
|
constitutional neutropenia
|
|
continuous spikes and waves during sleep
|
|
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
|
|
contractures, pterygia, and variable skeletal fusions syndrome
|
|
contractures, pterygia, and variable skeletal fusions syndrome 1B
|
|
conventional fibrosarcoma
|
|
conventional osteosarcoma
|
|
cor pulmonale
|
|
cor triatriatum dexter
|
|
cornea plana
|
|
cornea plana 2
|
|
corneal disorder
|
|
corneal dystrophy
|
|
corneal dystrophy, Fuchs endothelial, 1
|
|
corneal dystrophy, Fuchs endothelial, 3
|
|
corneal dystrophy, Fuchs endothelial, 4
|
|
corneal dystrophy, Fuchs endothelial, 6
|
|
corneal dystrophy, Fuchs endothelial, 8
|
|
corneal dystrophy, Meesmann, 1
|
|
corneal dystrophy, Meesmann, 2
|
|
corneal dystrophy, lattice type 3A
|
|
corneal dystrophy, posterior polymorphous, 4
|
|
corneal dystrophy, punctiform and polychromatic pre-descemet
|
|
corneal dystrophy-perceptive deafness syndrome
|
|
corneal endothelial dystrophy
|
|
corneal granular dystrophy
|
|
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
|
|
coronary artery disease, autosomal dominant 2
|
|
coronary artery disease, autosomal dominant, 1
|
|
coronary artery disease, severe, susceptibility to
|
|
coronary artery disorder
|
|
coronary heart disease, susceptibility to, 1
|
|
coronary heart disease, susceptibility to, 2
|
|
coronary heart disease, susceptibility to, 5
|
|
coronary heart disease, susceptibility to, 6
|
|
coronary heart disease, susceptibility to, 7
|
|
corpus callosum agenesis-abnormal genitalia syndrome
|
|
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
|
|
corpus callosum lipoma
|
|
corpus callosum, agenesis of
|
|
corpus uteri neoplasm
|
|
cortical cataract
|
|
cortical dysplasia, complex, with other brain malformations 10
|
|
cortical dysplasia, complex, with other brain malformations 11
|
|
cortical dysplasia, complex, with other brain malformations 12
|
|
cortical dysplasia, complex, with other brain malformations 9
|
|
cortical dysplasia-focal epilepsy syndrome
|
|
cortical senile cataract
|
|
corticobasal degeneration disorder
|
|
corticobasal syndrome
|
|
corticosteroid-binding globulin deficiency
|
|
corticosterone methyloxidase type 1 deficiency
|
|
corticosterone methyloxidase type 2 deficiency
|
|
cortisone reductase deficiency
|
|
cortisone reductase deficiency 1
|
|
cortisone reductase deficiency 2
|
|
coumarin resistance
|
|
coxopodopatellar syndrome
|
|
cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
|
|
cranial nerve neoplasm
|
|
cranial nerve neuropathy
|
|
cranial nerve palsy
|
|
cranio-osteoarthropathy
|
|
craniodiaphyseal dysplasia
|
|
craniodiaphyseal dysplasia, autosomal dominant
|
|
cranioectodermal dysplasia
|
|
cranioectodermal dysplasia 1
|
|
cranioectodermal dysplasia 2
|
|
cranioectodermal dysplasia 3
|
|
cranioectodermal dysplasia 4
|
|
craniofacial anomalies and anterior segment dysgenesis syndrome
|
|
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
|
|
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
|
|
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
|
|
craniofacial dysplasia - osteopenia syndrome
|
|
craniofacial microsomia
|
|
craniofacial microsomia 1
|
|
craniofacial microsomia 2
|
|
craniofacial-deafness-hand syndrome
|
|
craniofrontonasal syndrome
|
|
craniolenticulosutural dysplasia
|
|
craniometadiaphyseal dysplasia, wormian bone type
|
|
craniometadiaphyseal osteosclerosis with hip dysplasia
|
|
craniometaphyseal dysplasia
|
|
craniometaphyseal dysplasia, autosomal dominant
|
|
craniometaphyseal dysplasia, autosomal recessive
|
|
craniopharyngioma
|
|
craniosynostosis
|
|
craniosynostosis 2
|
|
craniosynostosis 4
|
|
craniosynostosis 5, susceptibility to
|
|
craniosynostosis 6
|
|
craniosynostosis 7
|
|
craniosynostosis and dental anomalies
|
|
craniosynostosis syndrome, autosomal recessive
|
|
craniosynostosis with ectopia lentis
|
|
craniosynostosis-anal anomalies-porokeratosis syndrome
|
|
craniotubular dysplasia, Ikegawa type
|
|
creatine biosynthetic process disease
|
|
creatine phosphokinase, elevated serum
|
|
creatine transporter deficiency
|
|
crescentic glomerulonephritis
|
|
cryohydrocytosis
|
|
cryopyrin-associated periodic syndrome
|
|
cryptophthalmia
|
|
cryptorchidism
|
|
cryptosporidiosis-chronic cholangitis-liver disease syndrome
|
|
cutaneous lupus erythematosus
|
|
cutaneous mastocytosis
|
|
cutaneous melanoma
|
|
cutaneous polyarteritis nodosa
|
|
cutaneous porphyria
|
|
cutis laxa
|
|
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
|
|
cutis laxa, autosomal dominant 1
|
|
cutis laxa, autosomal dominant 2
|
|
cutis laxa, autosomal dominant 3
|
|
cutis laxa, autosomal recessive, type 1A
|
|
cutis laxa, autosomal recessive, type 1B
|
|
cutis laxa, autosomal recessive, type 2E
|
|
cyanosis, transient neonatal
|
|
cyclic hematopoiesis
|
|
cyclic vomiting syndrome
|
|
cystadenocarcinoma
|
|
cystathioninuria
|
|
cystic disease of lung
|
|
cystic fibrosis
|
|
cystic fibrosis-gastritis-megaloblastic anemia syndrome
|
|
cystic hygroma
|
|
cystic kidney disease
|
|
cystic leukoencephalopathy without megalencephaly
|
|
cystic malformation of the posterior fossa
|
|
cystic neoplasm
|
|
cystinosis
|
|
cystinuria
|
|
cystoid macular edema
|
|
cytochrome-c oxidase deficiency disease
|
|
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
|
|
d-2-hydroxyglutaric aciduria 2
|
|
d-bifunctional protein deficiency
|
|
de Barsy syndrome
|
|
de Sanctis-Cacchione syndrome
|
|
de la Chapelle dysplasia
|
|
deafness dystonia syndrome
|
|
deafness with labyrinthine aplasia, microtia, and microdontia
|
|
deafness, Y-linked 2
|
|
deafness, aminoglycoside-induced
|
|
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
|
|
deafness, autosomal recessive 121
|
|
deafness, cataract, impaired intellectual development, and polyneuropathy
|
|
deafness, congenital heart defects, and posterior embryotoxon
|
|
deafness, congenital, and adult-onset progressive leukoencephalopathy
|
|
deafness, unilateral
|
|
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
|
|
deafness-infertility syndrome
|
|
deafness-intellectual disability, Martin-Probst type syndrome
|
|
deafness-lymphedema-leukemia syndrome
|
|
deeah syndrome
|
|
defect in conserved oligomeric Golgi complex
|
|
defective phagocytic cell engulfment
|
|
deficiency anemia
|
|
deficiency of adenosine deaminase 2
|
|
degeneration of macula and posterior pole
|
|
dehydrated hereditary stomatocytosis
|
|
dehydrated hereditary stomatocytosis 2
|
|
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
|
|
delayed puberty, self-limited
|
|
delayed sleep phase syndrome, susceptibility to
|
|
delta-beta-thalassemia
|
|
dementia
|
|
demyelinating disease
|
|
demyelinating disease of central nervous system
|
|
demyelinating polyneuropathy
|
|
dengue virus, susceptibility to
|
|
dense deposit disease
|
|
dental caries
|
|
dental enamel hypoplasia
|
|
dentatorubral-pallidoluysian atrophy
|
|
dentin dysplasia
|
|
dentin dysplasia type I
|
|
dentin dysplasia type II
|
|
dentinogenesis imperfecta
|
|
dentinogenesis imperfecta type 2
|
|
dentinogenesis imperfecta type 3
|
|
depressive disorder
|
|
dermatitis
|
|
dermatitis, atopic, 2
|
|
dermatitis, atopic, susceptibility to
|
|
dermatofibrosarcoma protuberans
|
|
dermatopathia pigmentosa reticularis
|
|
dermis disorder
|
|
dermis tumor
|
|
desmoid tumor
|
|
desmoid tumor caused by somatic mutation
|
|
desmoplastic small round cell tumor
|
|
desmoplastic/nodular medulloblastoma
|
|
desmosterolosis
|
|
developmental and epileptic encephalopathy
|
|
developmental and epileptic encephalopathy 100
|
|
developmental and epileptic encephalopathy 101
|
|
developmental and epileptic encephalopathy 102
|
|
developmental and epileptic encephalopathy 103
|
|
developmental and epileptic encephalopathy 104
|
|
developmental and epileptic encephalopathy 105 with hypopituitarism
|
|
developmental and epileptic encephalopathy 106
|
|
developmental and epileptic encephalopathy 107
|
|
developmental and epileptic encephalopathy 108
|
|
developmental and epileptic encephalopathy 109
|
|
developmental and epileptic encephalopathy 110
|
|
developmental and epileptic encephalopathy 111
|
|
developmental and epileptic encephalopathy 112
|
|
developmental and epileptic encephalopathy 31B
|
|
developmental and epileptic encephalopathy 6B
|
|
developmental and epileptic encephalopathy 89
|
|
developmental and epileptic encephalopathy 94
|
|
developmental and epileptic encephalopathy 96
|
|
developmental and epileptic encephalopathy 97
|
|
developmental and epileptic encephalopathy 98
|
|
developmental and epileptic encephalopathy 99
|
|
developmental and epileptic encephalopathy, 1
|
|
developmental and epileptic encephalopathy, 11
|
|
developmental and epileptic encephalopathy, 12
|
|
developmental and epileptic encephalopathy, 13
|
|
developmental and epileptic encephalopathy, 14
|
|
developmental and epileptic encephalopathy, 15
|
|
developmental and epileptic encephalopathy, 16
|
|
developmental and epileptic encephalopathy, 17
|
|
developmental and epileptic encephalopathy, 18
|
|
developmental and epileptic encephalopathy, 19
|
|
developmental and epileptic encephalopathy, 2
|
|
developmental and epileptic encephalopathy, 21
|
|
developmental and epileptic encephalopathy, 23
|
|
developmental and epileptic encephalopathy, 24
|
|
developmental and epileptic encephalopathy, 25
|
|
developmental and epileptic encephalopathy, 26
|
|
developmental and epileptic encephalopathy, 27
|
|
developmental and epileptic encephalopathy, 28
|
|
developmental and epileptic encephalopathy, 29
|
|
developmental and epileptic encephalopathy, 3
|
|
developmental and epileptic encephalopathy, 30
|
|
developmental and epileptic encephalopathy, 31
|
|
developmental and epileptic encephalopathy, 32
|
|
developmental and epileptic encephalopathy, 33
|
|
developmental and epileptic encephalopathy, 34
|
|
developmental and epileptic encephalopathy, 35
|
|
developmental and epileptic encephalopathy, 36
|
|
developmental and epileptic encephalopathy, 37
|
|
developmental and epileptic encephalopathy, 38
|
|
developmental and epileptic encephalopathy, 39
|
|
developmental and epileptic encephalopathy, 4
|
|
developmental and epileptic encephalopathy, 40
|
|
developmental and epileptic encephalopathy, 41
|
|
developmental and epileptic encephalopathy, 42
|
|
developmental and epileptic encephalopathy, 43
|
|
developmental and epileptic encephalopathy, 44
|
|
developmental and epileptic encephalopathy, 45
|
|
developmental and epileptic encephalopathy, 46
|
|
developmental and epileptic encephalopathy, 47
|
|
developmental and epileptic encephalopathy, 48
|
|
developmental and epileptic encephalopathy, 49
|
|
developmental and epileptic encephalopathy, 5
|
|
developmental and epileptic encephalopathy, 50
|
|
developmental and epileptic encephalopathy, 51
|
|
developmental and epileptic encephalopathy, 52
|
|
developmental and epileptic encephalopathy, 53
|
|
developmental and epileptic encephalopathy, 54
|
|
developmental and epileptic encephalopathy, 55
|
|
developmental and epileptic encephalopathy, 56
|
|
developmental and epileptic encephalopathy, 57
|
|
developmental and epileptic encephalopathy, 58
|
|
developmental and epileptic encephalopathy, 59
|
|
developmental and epileptic encephalopathy, 6
|
|
developmental and epileptic encephalopathy, 60
|
|
developmental and epileptic encephalopathy, 61
|
|
developmental and epileptic encephalopathy, 62
|
|
developmental and epileptic encephalopathy, 63
|
|
developmental and epileptic encephalopathy, 64
|
|
developmental and epileptic encephalopathy, 65
|
|
developmental and epileptic encephalopathy, 66
|
|
developmental and epileptic encephalopathy, 67
|
|
developmental and epileptic encephalopathy, 68
|
|
developmental and epileptic encephalopathy, 69
|
|
developmental and epileptic encephalopathy, 7
|
|
developmental and epileptic encephalopathy, 70
|
|
developmental and epileptic encephalopathy, 71
|
|
developmental and epileptic encephalopathy, 72
|
|
developmental and epileptic encephalopathy, 73
|
|
developmental and epileptic encephalopathy, 74
|
|
developmental and epileptic encephalopathy, 75
|
|
developmental and epileptic encephalopathy, 76
|
|
developmental and epileptic encephalopathy, 77
|
|
developmental and epileptic encephalopathy, 78
|
|
developmental and epileptic encephalopathy, 79
|
|
developmental and epileptic encephalopathy, 8
|
|
developmental and epileptic encephalopathy, 80
|
|
developmental and epileptic encephalopathy, 81
|
|
developmental and epileptic encephalopathy, 82
|
|
developmental and epileptic encephalopathy, 83
|
|
developmental and epileptic encephalopathy, 84
|
|
developmental and epileptic encephalopathy, 85, with or without midline brain defects
|
|
developmental and epileptic encephalopathy, 86
|
|
developmental and epileptic encephalopathy, 87
|
|
developmental and epileptic encephalopathy, 88
|
|
developmental and epileptic encephalopathy, 9
|
|
developmental and epileptic encephalopathy, 90
|
|
developmental and speech delay due to SOX5 deficiency
|
|
developmental anomaly of metabolic origin
|
|
developmental defect during embryogenesis
|
|
developmental delay and seizures with or without movement abnormalities
|
|
developmental delay with autism spectrum disorder and gait instability
|
|
developmental delay with dysmorphic facies and dental anomalies
|
|
developmental delay with hypotonia, myopathy, and brain abnormalities
|
|
developmental delay with or without dysmorphic facies and autism
|
|
developmental delay with or without epilepsy
|
|
developmental delay with or without intellectual impairment or behavioral abnormalities
|
|
developmental delay with short stature, dysmorphic facial features, and sparse hair
|
|
developmental delay with short stature, dysmorphic facial features, and sparse hair 1
|
|
developmental delay with short stature, dysmorphic facial features, and sparse hair 2
|
|
developmental delay with variable intellectual disability and dysmorphic facies
|
|
developmental delay with variable intellectual impairment and behavioral abnormalities
|
|
developmental delay with variable neurologic and brain abnormalities
|
|
developmental delay, behavioral abnormalities, and neuropsychiatric disorders
|
|
developmental delay, dysmorphic facies, and brain anomalies
|
|
developmental delay, hypotonia, and impaired language
|
|
developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
|
|
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
|
|
developmental delay, impaired speech, and behavioral abnormalities
|
|
developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
|
|
developmental delay, language impairment, and ocular abnormalities
|
|
developmental disorder of mental health
|
|
developmental dysplasia of the hip
|
|
developmental dysplasia of the hip 1
|
|
developmental dysplasia of the hip 3
|
|
developmental malformations-deafness-dystonia syndrome
|
|
dextro-looped transposition of the great arteries
|
|
dextrocardia
|
|
diabetes insipidus
|
|
diabetes insipidus, nephrogenic, X-linked
|
|
diabetes insipidus, nephrogenic, autosomal
|
|
diabetes mellitus
|
|
diabetes mellitus, insulin-dependent, X-linked, susceptibility to
|
|
diabetes mellitus, ketosis-prone
|
|
diabetes mellitus, noninsulin-dependent, 1
|
|
diabetes mellitus, permanent neonatal 2
|
|
diabetes mellitus, permanent neonatal 3
|
|
diabetes mellitus, permanent neonatal 4
|
|
diabetes mellitus, transient neonatal, 1
|
|
diabetes mellitus, transient neonatal, 2
|
|
diabetes mellitus, transient neonatal, 3
|
|
diabetes, deafness, developmental delay, and short stature syndrome
|
|
diaphanospondylodysostosis
|
|
diaphragm disorder
|
|
diaphragmatic eventration
|
|
diaphragmatic hernia 1
|
|
diaphragmatic hernia 3
|
|
diaphragmatic hernia 4, with cardiovascular defects
|
|
diaphyseal medullary stenosis-bone malignancy syndrome
|
|
diarrhea 10, protein-losing enteropathy type
|
|
diarrhea 11, malabsorptive, congenital
|
|
diarrhea 12, with microvillus atrophy
|
|
diarrhea 13
|
|
diarrhea 9
|
|
diarrhea-vomiting due to trehalase deficiency
|
|
diarrheal disease
|
|
diastrophic dysplasia
|
|
diazoxide-resistant focal hyperinsulinism
|
|
diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
|
|
diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
|
|
diazoxide-resistant hyperinsulinism
|
|
diazoxide-sensitive diffuse hyperinsulinism
|
|
dicarboxylic aminoaciduria
|
|
diencephalic cancer
|
|
diencephalic-mesencephalic junction dysplasia
|
|
diencephalic-mesencephalic junction dysplasia syndrome 1
|
|
diencephalic-mesencephalic junction dysplasia syndrome 2
|
|
differentiated thyroid carcinoma
|
|
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
|
|
diffuse gastric adenocarcinoma
|
|
diffuse intrinsic pontine glioma
|
|
diffuse large B-cell lymphoma
|
|
diffuse nonepidermolytic palmoplantar keratoderma
|
|
diffuse palmoplantar keratoderma
|
|
diffuse palmoplantar keratoderma with painful fissures
|
|
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
|
|
diffuse type adenocarcinoma
|
|
digestive system adenoma
|
|
digestive system cancer
|
|
digestive system carcinoma
|
|
digestive system disorder
|
|
digestive system neoplasm
|
|
digestive system neuroendocrine neoplasm
|
|
digestive system neuroendocrine tumor, grade 1/2
|
|
digitotalar dysmorphism
|
|
dihydropteridine reductase deficiency
|
|
dihydropyrimidine dehydrogenase deficiency
|
|
dihydropyrimidinuria
|
|
dilated cardiomyopathy
|
|
dilated cardiomyopathy 1A
|
|
dilated cardiomyopathy 1AA
|
|
dilated cardiomyopathy 1B
|
|
dilated cardiomyopathy 1BB
|
|
dilated cardiomyopathy 1C
|
|
dilated cardiomyopathy 1CC
|
|
dilated cardiomyopathy 1D
|
|
dilated cardiomyopathy 1DD
|
|
dilated cardiomyopathy 1E
|
|
dilated cardiomyopathy 1EE
|
|
dilated cardiomyopathy 1FF
|
|
dilated cardiomyopathy 1G
|
|
dilated cardiomyopathy 1GG
|
|
dilated cardiomyopathy 1HH
|
|
dilated cardiomyopathy 1I
|
|
dilated cardiomyopathy 1II
|
|
dilated cardiomyopathy 1J
|
|
dilated cardiomyopathy 1JJ
|
|
dilated cardiomyopathy 1KK
|
|
dilated cardiomyopathy 1L
|
|
dilated cardiomyopathy 1M
|
|
dilated cardiomyopathy 1NN
|
|
dilated cardiomyopathy 1O
|
|
dilated cardiomyopathy 1P
|
|
dilated cardiomyopathy 1R
|
|
dilated cardiomyopathy 1S
|
|
dilated cardiomyopathy 1U
|
|
dilated cardiomyopathy 1V
|
|
dilated cardiomyopathy 1W
|
|
dilated cardiomyopathy 1X
|
|
dilated cardiomyopathy 1Y
|
|
dilated cardiomyopathy 1Z
|
|
dilated cardiomyopathy 2A
|
|
dilated cardiomyopathy 2B
|
|
dilated cardiomyopathy 3B
|
|
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
|
dimethylglycine dehydrogenase deficiency
|
|
disabling pansclerotic morphea of childhood
|
|
disappearing bone disease
|
|
discoid lupus erythematosus
|
|
disease
|
|
disease of bone structure
|
|
disease of orbital part of eye adnexa
|
|
disease related to hematopoietic stem cell transplant
|
|
disease related to transplantation
|
|
disease susceptibility
|
|
disorder of GNAS inactivation
|
|
disorder of GPI anchor biosynthesis
|
|
disorder of acid-base balance
|
|
disorder of appendix
|
|
disorder of beta and omega amino acid metabolism
|
|
disorder of carbohydrate transmembrane transport and absorption
|
|
disorder of carnitine cycle and carnitine transport
|
|
disorder of catecholamine synthesis
|
|
disorder of copper metabolism
|
|
disorder of defective peroxisomal and mitochondrial fission
|
|
disorder of defective peroxisome oxidative status
|
|
disorder of development or morphogenesis
|
|
disorder of ear
|
|
disorder of facial skeleton
|
|
disorder of fatty acid and ketone body metabolism
|
|
disorder of fatty acid oxidation and ketogenesis
|
|
disorder of folate metabolism and transport
|
|
disorder of fructose metabolism
|
|
disorder of fucoglycosan synthesis
|
|
disorder of galactose and fructose metabolism
|
|
disorder of galactose metabolism
|
|
disorder of gluconeogenesis
|
|
disorder of glutamine metabolism
|
|
disorder of glycogen metabolism
|
|
disorder of glycolysis
|
|
disorder of glycosylation
|
|
disorder of glyoxylate metabolism
|
|
disorder of iron metabolism and transport
|
|
disorder of lectin complement activation pathway
|
|
disorder of lysosomal-related organelles
|
|
disorder of magnesium transport
|
|
disorder of manganese transport
|
|
disorder of melanin metabolism
|
|
disorder of metabolite absorption and transport
|
|
disorder of methionine catabolism
|
|
disorder of methylamine metabolism
|
|
disorder of mineral absorption and transport
|
|
disorder of multiple glycosylation
|
|
disorder of orbital region
|
|
disorder of organic acid metabolism
|
|
disorder of peptide and amine metabolism
|
|
disorder of peroxisomal alpha oxidation
|
|
disorder of peroxisomal beta oxidation
|
|
disorder of peroxisomal transporter
|
|
disorder of pharynx
|
|
disorder of phenylalanine metabolism
|
|
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
|
|
disorder of pilosebaceous unit
|
|
disorder of plasmalogens biosynthesis
|
|
disorder of polyamine metabolism
|
|
disorder of protein N-glycosylation
|
|
disorder of protein O-glycosylation
|
|
disorder of sexual differentiation
|
|
disorder of sialic acid metabolism
|
|
disorder of thiamine metabolism and transport
|
|
disorder of tyrosine metabolism
|
|
disorder of visual system
|
|
disorder of vitamin and non-protein cofactor absorption and transport
|
|
disorder of zinc metabolism
|
|
disorders of pentose/polyol metabolism
|
|
disorders of vitamin D metabolism
|
|
disseminated superficial actinic porokeratosis
|
|
distal 10q deletion syndrome
|
|
distal 16p11.2 microdeletion syndrome
|
|
distal 17p13.3 microdeletion syndrome
|
|
distal 7q11.23 microdeletion syndrome
|
|
distal arthrogryposis
|
|
distal arthrogryposis type 2B1
|
|
distal arthrogryposis type 5D
|
|
distal hereditary motor neuropathy
|
|
distal hereditary motor neuropathy type 2
|
|
distal hereditary motor neuropathy type 7
|
|
distal monosomy 10p
|
|
distal monosomy 13q
|
|
distal myopathy
|
|
distal myopathy with anterior tibial onset
|
|
distal myopathy with posterior leg and anterior hand involvement
|
|
distal myopathy with vocal cord weakness
|
|
distal myopathy, Tateyama type
|
|
distal myopathy, Welander type
|
|
distal renal tubular acidosis
|
|
distal tetrasomy 15q
|
|
distal trisomy 10q
|
|
distal trisomy 11q
|
|
distal trisomy 1p36
|
|
distal trisomy 8q
|
|
dominant beta-thalassemia
|
|
dopa-responsive dystonia
|
|
dopa-responsive dystonia due to sepiapterin reductase deficiency
|
|
double outlet right ventricle
|
|
drug dependence
|
|
drug- or toxin-induced pulmonary arterial hypertension
|
|
ductal breast carcinoma in situ
|
|
duodenal adenocarcinoma
|
|
duodenal atresia
|
|
duodenal disorder
|
|
duodenum cancer
|
|
dyscalculia
|
|
dyschromatosis symmetrica hereditaria
|
|
dyschromatosis universalis hereditaria
|
|
dyschromatosis universalis hereditaria 1
|
|
dyschromatosis universalis hereditaria 3
|
|
dysgammaglobulinemia
|
|
dysgerminoma
|
|
dyskeratosis congenita
|
|
dyskeratosis congenita and related telomere biology disorder
|
|
dyskeratosis congenita, X-linked
|
|
dyskeratosis congenita, autosomal dominant 1
|
|
dyskeratosis congenita, autosomal dominant 2
|
|
dyskeratosis congenita, autosomal dominant 3
|
|
dyskeratosis congenita, autosomal dominant 4
|
|
dyskeratosis congenita, autosomal dominant 6
|
|
dyskeratosis congenita, autosomal recessive 1
|
|
dyskeratosis congenita, autosomal recessive 2
|
|
dyskeratosis congenita, autosomal recessive 3
|
|
dyskeratosis congenita, autosomal recessive 5
|
|
dyskeratosis congenita, autosomal recessive 6
|
|
dyskeratosis congenita, autosomal recessive 7
|
|
dyskeratosis congenita, autosomal recessive 8
|
|
dyskeratosis congenita, digenic
|
|
dyskinesia with orofacial involvement
|
|
dyskinesia with orofacial involvement, autosomal dominant
|
|
dyskinesia with orofacial involvement, autosomal recessive
|
|
dyslexia
|
|
dyslexia, susceptibility to, 1
|
|
dyslexia, susceptibility to, 2
|
|
dysosteosclerosis
|
|
dysostosis
|
|
dysostosis multiplex, Ain-Naz type
|
|
dysplasminogenemia
|
|
dysplastic cortical hyperostosis
|
|
dystonia 12
|
|
dystonia 16
|
|
dystonia 22, adult-onset
|
|
dystonia 22, juvenile-onset
|
|
dystonia 23
|
|
dystonia 24
|
|
dystonia 25
|
|
dystonia 27
|
|
dystonia 28, childhood-onset
|
|
dystonia 30
|
|
dystonia 31
|
|
dystonia 32
|
|
dystonia 33
|
|
dystonia 34, myoclonic
|
|
dystonia 35, childhood-onset
|
|
dystonia 37, early-onset, with striatal lesions
|
|
dystonia 5
|
|
dystonia 9
|
|
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
|
|
dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
|
|
dystonia, early-onset, and/or spastic paraplegia
|
|
dystonic disorder
|
|
dystrophic epidermolysis bullosa pruriginosa
|
|
ear malformation
|
|
early T cell progenitor acute lymphoblastic leukemia
|
|
early myoclonic encephalopathy
|
|
early repolarization associated with ventricular fibrillation
|
|
early-onset Lafora body disease
|
|
early-onset Parkinson disease 20
|
|
early-onset autosomal dominant Alzheimer disease
|
|
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
|
|
early-onset generalized dystonia
|
|
early-onset generalized limb-onset dystonia
|
|
early-onset myopathy with fatal cardiomyopathy
|
|
early-onset non-syndromic cataract
|
|
early-onset nuclear cataract
|
|
early-onset parkinsonism-intellectual disability syndrome
|
|
early-onset partial cataract
|
|
early-onset posterior polar cataract
|
|
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
|
|
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
|
|
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
|
|
early-onset zonular cataract
|
|
eccentrochondrodysplasia
|
|
eccrine carcinoma
|
|
eccrine porocarcinoma
|
|
eccrine sweat gland cancer
|
|
eccrine sweat gland neoplasm
|
|
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
|
|
ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
|
|
ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
|
|
ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
|
|
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
|
|
ectodermal dysplasia 13, hair/tooth type
|
|
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
|
|
ectodermal dysplasia 15, hypohidrotic/hair type
|
|
ectodermal dysplasia 4, hair/nail type
|
|
ectodermal dysplasia 7, hair/nail type
|
|
ectodermal dysplasia 9, hair/nail type
|
|
ectodermal dysplasia WNT10A related
|
|
ectodermal dysplasia and immune deficiency
|
|
ectodermal dysplasia and immunodeficiency 1
|
|
ectodermal dysplasia and immunodeficiency 2
|
|
ectodermal dysplasia syndrome
|
|
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
|
|
ectodermal dysplasia-syndactyly syndrome
|
|
ectodermal dysplasia-syndactyly syndrome 1
|
|
ectopia lentis 1, isolated, autosomal dominant
|
|
ectopia lentis 2, isolated, autosomal recessive
|
|
ectopia lentis et pupillae
|
|
ectopia pupillae
|
|
ectrodactyly and ectodermal dysplasia without cleft lip/palate
|
|
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
|
|
ectropion
|
|
ehlers-danlos syndrome, arthrochalasia type, 2
|
|
electroclinical syndrome
|
|
elliptocytosis 1
|
|
elliptocytosis 2
|
|
elliptocytosis 3
|
|
embryonal neoplasm
|
|
embryonal rhabdomyosarcoma
|
|
encephalitis
|
|
encephalitis, acute, infection (viral)-induced, susceptibility to, 11
|
|
encephalitis, acute, infection-induced, susceptibility to
|
|
encephalitis, acute, infection-induced, susceptibility to, 12
|
|
encephalitis/encephalopathy, mild, with reversible myelin vacuolization
|
|
encephaloclastic disorder
|
|
encephalocraniocutaneous lipomatosis
|
|
encephalomalacia
|
|
encephalomyelitis
|
|
encephalopathy due to GLUT1 deficiency
|
|
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
|
|
encephalopathy due to defective mitochondrial and peroxisomal fission 2
|
|
encephalopathy due to hydroxykynureninuria
|
|
encephalopathy due to mitochondrial and peroxisomal fission defect
|
|
encephalopathy due to sulfite oxidase deficiency
|
|
encephalopathy, acute, infection-induced
|
|
encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
|
|
encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
|
|
encephalopathy, acute, infection-induced, susceptibility to, 4
|
|
encephalopathy, acute, infection-induced, susceptibility to, 9
|
|
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
|
|
encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
|
|
encephalopathy, porphyria-related
|
|
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
|
|
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
|
|
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
|
|
encephalopathy, progressive, with amyotrophy and optic atrophy
|
|
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
|
|
endocardial fibroelastosis
|
|
endocardium disorder
|
|
endocrine alopecia
|
|
endocrine gland neoplasm
|
|
endocrine pancreas disorder
|
|
endocrine system disorder
|
|
endocrine-cerebro-osteodysplasia syndrome
|
|
endolymphatic hydrops
|
|
endometrial cancer
|
|
endometrial carcinoma
|
|
endometrial disorder
|
|
endometrioid adenocarcinoma
|
|
endometriosis
|
|
endometrium adenocarcinoma
|
|
endometrium neoplasm
|
|
endove syndrome, limb-brain type
|
|
enhanced S-cone syndrome
|
|
enophthalmos
|
|
enthesitis
|
|
enthesopathy
|
|
entropion
|
|
enuresis
|
|
eosinophil disorder
|
|
eosinophil peroxidase deficiency
|
|
ependymal tumor
|
|
ependymal tumor of spinal cord
|
|
ependymoma
|
|
epidermal appendage tumor
|
|
epidermal disease
|
|
epidermodysplasia verruciformis
|
|
epidermodysplasia verruciformis, susceptibility to
|
|
epidermodysplasia verruciformis, susceptibility to, 1
|
|
epidermodysplasia verruciformis, susceptibility to, 2
|
|
epidermodysplasia verruciformis, susceptibility to, 3
|
|
epidermodysplasia verruciformis, susceptibility to, 4
|
|
epidermodysplasia verruciformis, susceptibility to, 5
|
|
epidermolysis bullosa
|
|
epidermolysis bullosa dystrophica
|
|
epidermolysis bullosa simplex
|
|
epidermolysis bullosa simplex 1A, generalized severe
|
|
epidermolysis bullosa simplex 1B, generalized intermediate
|
|
epidermolysis bullosa simplex 1C, localized
|
|
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
|
|
epidermolysis bullosa simplex 2A, generalized severe
|
|
epidermolysis bullosa simplex 2B, generalized intermediate
|
|
epidermolysis bullosa simplex 2C, localized
|
|
epidermolysis bullosa simplex 2E, with migratory circinate erythema
|
|
epidermolysis bullosa simplex 2F, with mottled pigmentation
|
|
epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
|
|
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
|
|
epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
|
|
epidermolysis bullosa simplex 5B, with muscular dystrophy
|
|
epidermolysis bullosa simplex 5C, with pyloric atresia
|
|
epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
|
|
epidermolysis bullosa simplex 7, with nephropathy and deafness
|
|
epidermolysis bullosa simplex due to plakophilin deficiency
|
|
epidermolysis bullosa simplex with nail dystrophy
|
|
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
|
|
epidermolysis bullosa, junctional 2A, intermediate
|
|
epidermolysis bullosa, junctional 2B, severe
|
|
epidermolysis bullosa, junctional 3A, intermediate
|
|
epidermolysis bullosa, junctional 3B, severe
|
|
epidermolysis bullosa, junctional 4, intermediate
|
|
epidermolysis bullosa, junctional 5A, intermediate
|
|
epidermolysis bullosa, junctional 6, with pyloric atresia
|
|
epidermolytic acanthoma
|
|
epidermolytic hyperkeratosis
|
|
epidermolytic hyperkeratosis 1
|
|
epidermolytic hyperkeratosis 2
|
|
epidermolytic hyperkeratosis 2A, autosomal dominant
|
|
epidermolytic ichthyosis
|
|
epidermolytic nevus
|
|
epidermolytic palmoplantar keratoderma
|
|
epilepsy
|
|
epilepsy of infancy with migrating focal seizures
|
|
epilepsy syndrome
|
|
epilepsy with generalized tonic-clonic seizures
|
|
epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
|
|
epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
|
|
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
|
|
epilepsy, childhood absence, susceptibility to, 1
|
|
epilepsy, childhood absence, susceptibility to, 5
|
|
epilepsy, childhood absence, susceptibility to, 6
|
|
epilepsy, early-onset
|
|
epilepsy, early-onset, 3, with or without developmental delay
|
|
epilepsy, early-onset, vitamin B6-dependent
|
|
epilepsy, early-onset, with or without developmental delay
|
|
epilepsy, familial adult myoclonic
|
|
epilepsy, familial adult myoclonic, 1
|
|
epilepsy, familial adult myoclonic, 2
|
|
epilepsy, familial adult myoclonic, 3
|
|
epilepsy, familial adult myoclonic, 4
|
|
epilepsy, familial adult myoclonic, 5
|
|
epilepsy, familial adult myoclonic, 6
|
|
epilepsy, familial adult myoclonic, 7
|
|
epilepsy, familial focal, with variable foci 1
|
|
epilepsy, familial focal, with variable foci 2
|
|
epilepsy, familial focal, with variable foci 3
|
|
epilepsy, familial focal, with variable foci 4
|
|
epilepsy, familial temporal lobe, 1
|
|
epilepsy, idiopathic generalized
|
|
epilepsy, idiopathic generalized, susceptibility to, 10
|
|
epilepsy, idiopathic generalized, susceptibility to, 11
|
|
epilepsy, idiopathic generalized, susceptibility to, 12
|
|
epilepsy, idiopathic generalized, susceptibility to, 13
|
|
epilepsy, idiopathic generalized, susceptibility to, 14
|
|
epilepsy, idiopathic generalized, susceptibility to, 15
|
|
epilepsy, idiopathic generalized, susceptibility to, 16
|
|
epilepsy, idiopathic generalized, susceptibility to, 17
|
|
epilepsy, idiopathic generalized, susceptibility to, 18
|
|
epilepsy, idiopathic generalized, susceptibility to, 6
|
|
epilepsy, idiopathic generalized, susceptibility to, 7
|
|
epilepsy, idiopathic generalized, susceptibility to, 8
|
|
epilepsy, idiopathic generalized, susceptibility to, 9
|
|
epilepsy, juvenile absence, susceptibility to
|
|
epilepsy, juvenile absence, susceptibility to, 1
|
|
epilepsy, juvenile myoclonic, susceptibility to, 10
|
|
epilepsy, juvenile myoclonic, susceptibility to, 6
|
|
epilepsy, progressive myoclonic, 11
|
|
epilepsy, progressive myoclonic, 12
|
|
epilepsy, progressive myoclonic, 1B
|
|
epilepsy, progressive myoclonic, 2b
|
|
epileptic encephalopathy, infantile or early childhood
|
|
epileptic encephalopathy, infantile or early childhood, 1
|
|
epileptic encephalopathy, infantile or early childhood, 2
|
|
epileptic encephalopathy, infantile or early childhood, 3
|
|
epiphyseal dysplasia, multiple, 2
|
|
epiphyseal dysplasia, multiple, 3
|
|
epiphyseal dysplasia, multiple, 6
|
|
epiphyseal dysplasia, multiple, 7
|
|
episodic ataxia type 1
|
|
episodic ataxia type 2
|
|
episodic ataxia type 5
|
|
episodic ataxia type 6
|
|
episodic ataxia, type 9
|
|
episodic kinesigenic dyskinesia
|
|
episodic kinesigenic dyskinesia 1
|
|
episodic kinesigenic dyskinesia 3
|
|
episodic pain syndrome, familial, 2
|
|
epithelial and subepithelial corneal dystrophy
|
|
epithelial basement membrane dystrophy
|
|
epithelial neoplasm
|
|
epithelial neoplasm of rectum
|
|
epithelial recurrent erosion dystrophy
|
|
epithelial skin neoplasm
|
|
epithelial tumor of colon
|
|
epithelial-stromal TGFBI dystrophy
|
|
epsilon-trimethyllysine hydroxylase deficiency
|
|
erythema multiforme major
|
|
erythrocyte disorder
|
|
erythrocytosis, familial, 3
|
|
erythrocytosis, familial, 4
|
|
erythrocytosis, familial, 5
|
|
erythrocytosis, familial, 6
|
|
erythrocytosis, familial, 7
|
|
erythroid neoplasm
|
|
erythrokeratoderma
|
|
erythrokeratodermia variabilis
|
|
erythrokeratodermia variabilis et progressiva 1
|
|
erythrokeratodermia variabilis et progressiva 2
|
|
erythrokeratodermia variabilis et progressiva 3
|
|
erythrokeratodermia variabilis et progressiva 4
|
|
erythrokeratodermia variabilis et progressiva 5
|
|
erythrokeratodermia variabilis et progressiva 6
|
|
erythrokeratodermia variabilis et progressiva 7
|
|
erythroleukemia, familial, susceptibility to
|
|
erythromelalgia
|
|
erythropoietic protoporphyria
|
|
esophageal atresia
|
|
esophageal atresia/tracheoesophageal fistula
|
|
esophageal cancer
|
|
esophageal disorder
|
|
esophageal squamous cell carcinoma
|
|
esotropia
|
|
essential fructosuria
|
|
essential hypertension
|
|
essential hypertension, genetic
|
|
essential thrombocythemia
|
|
essential tremor
|
|
estrogen resistance syndrome
|
|
estrogen-receptor negative breast cancer
|
|
ethylmalonic encephalopathy
|
|
even-plus syndrome
|
|
exanthem
|
|
exercise intolerance, riboflavin-responsive
|
|
exercise-induced hyperinsulinism
|
|
exercise-induced malignant hyperthermia
|
|
exfoliation syndrome
|
|
exfoliation syndrome, susceptibility to
|
|
exfoliative dermatitis
|
|
exfoliative ichthyosis
|
|
exocrine pancreatic carcinoma
|
|
exocrine pancreatic insufficiency
|
|
exophthalmos
|
|
exostoses, multiple, type 1
|
|
exostoses, multiple, type 2
|
|
exostosis
|
|
exotropia
|
|
exstrophy-epispadias complex
|
|
extragonadal germ cell cancer
|
|
extragonadal germ cell tumor
|
|
extragonadal germinoma
|
|
extrahepatic bile duct adenocarcinoma
|
|
extrahepatic bile duct carcinoma
|
|
extrahepatic bile duct neoplasm
|
|
extraoral halitosis due to methanethiol oxidase deficiency
|
|
extrapyramidal and movement disease
|
|
exudative vitreoretinopathy
|
|
exudative vitreoretinopathy 1
|
|
exudative vitreoretinopathy 2, X-linked
|
|
exudative vitreoretinopathy 4
|
|
exudative vitreoretinopathy 5
|
|
exudative vitreoretinopathy 6
|
|
exudative vitreoretinopathy 7
|
|
eye adnexa disorder
|
|
eye carcinoma
|
|
eye degenerative disorder
|
|
eye disorder
|
|
eye neoplasm
|
|
eyelid disorder
|
|
eyelid neoplasm
|
|
facial cleft
|
|
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
|
|
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
|
|
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
|
|
facial nerve disorder
|
|
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
|
|
facial paralysis
|
|
facial paresis, hereditary congenital, 3
|
|
faciodigitogenital syndrome
|
|
facioscapulohumeral muscular dystrophy
|
|
facioscapulohumeral muscular dystrophy 2
|
|
facioscapulohumeral muscular dystrophy 3, digenic
|
|
facioscapulohumeral muscular dystrophy 4, digenic
|
|
factor 5 and Factor VIII, combined deficiency of, 2
|
|
factor V and factor VIII, combined deficiency of, type 1
|
|
factor V deficiency
|
|
factor VII deficiency
|
|
factor X deficiency
|
|
factor XI deficiency
|
|
factor XIII deficiency
|
|
factor XIII, A subunit, deficiency of
|
|
factor XIII, b subunit, deficiency of
|
|
familial Alzheimer disease
|
|
familial Mediterranean fever
|
|
familial Mediterranean fever, autosomal dominant
|
|
familial abdominal aortic aneurysm
|
|
familial acne inversa
|
|
familial acute necrotizing encephalopathy
|
|
familial adenomatous polyposis 1
|
|
familial adenomatous polyposis 2
|
|
familial adenomatous polyposis 3
|
|
familial adenomatous polyposis 4
|
|
familial adenomatous polyposis due to 5q22.2 microdeletion
|
|
familial amyloid neuropathy
|
|
familial amyotrophic lateral sclerosis
|
|
familial apolipoprotein C-II deficiency
|
|
familial atrial fibrillation
|
|
familial atrial myxoma
|
|
familial atrioventricular septal defect
|
|
familial atypical multiple mole melanoma syndrome
|
|
familial avascular necrosis of femoral head
|
|
familial benign flecked retina
|
|
familial bent bone dysplasia syndrome
|
|
familial bicuspid aortic valve
|
|
familial cardiomyopathy
|
|
familial caudal dysgenesis
|
|
familial cavitary optic disk anomaly
|
|
familial chilblain lupus
|
|
familial chylomicronemia syndrome
|
|
familial clubfoot due to 17q23.1q23.2 microduplication
|
|
familial clubfoot with or without associated lower limb anomalies
|
|
familial cold autoinflammatory syndrome
|
|
familial cold autoinflammatory syndrome 1
|
|
familial cold autoinflammatory syndrome 2
|
|
familial cold autoinflammatory syndrome 3
|
|
familial cold autoinflammatory syndrome 4
|
|
familial colorectal cancer
|
|
familial congenital mirror movements
|
|
familial congenital nasolacrimal duct obstruction
|
|
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
|
|
familial cylindromatosis
|
|
familial cystic renal disease
|
|
familial digital arthropathy-brachydactyly
|
|
familial dilated cardiomyopathy
|
|
familial dysfibrinogenemia
|
|
familial encephalopathy with neuroserpin inclusion bodies
|
|
familial episodic pain syndrome
|
|
familial episodic pain syndrome with predominantly lower limb involvement
|
|
familial episodic pain syndrome with predominantly upper body involvement
|
|
familial expansile osteolysis
|
|
familial flecked retinopathy
|
|
familial focal epilepsy with variable foci
|
|
familial gestational hyperthyroidism
|
|
familial glucocorticoid deficiency
|
|
familial hemiplegic migraine
|
|
familial hemolytic anemia
|
|
familial hemophagocytic lymphohistiocytosis 2
|
|
familial hemophagocytic lymphohistiocytosis 3
|
|
familial hemophagocytic lymphohistiocytosis 4
|
|
familial hemophagocytic lymphohistiocytosis 5
|
|
familial hemophagocytic lymphohistiocytosis type 1
|
|
familial hyperaldosteronism
|
|
familial hyperaldosteronism type II
|
|
familial hyperaldosteronism type III
|
|
familial hypercholesterolemia
|
|
familial hyperinsulinism
|
|
familial hyperlipidemia
|
|
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
|
|
familial hyperprolactinemia
|
|
familial hyperthyroidism due to mutations in TSH receptor
|
|
familial hypertrophic cardiomyopathy
|
|
familial hypertryptophanemia
|
|
familial hypoaldosteronism
|
|
familial hypobetalipoproteinemia 1
|
|
familial hypobetalipoproteinemia 2
|
|
familial hypocalciuric hypercalcemia
|
|
familial hypocalciuric hypercalcemia 1
|
|
familial hypocalciuric hypercalcemia 2
|
|
familial hypocalciuric hypercalcemia 3
|
|
familial hypodysfibrinogenemia
|
|
familial hypoparathyroidism
|
|
familial idiopathic inflammatory myopathy
|
|
familial idiopathic steroid-resistant nephrotic syndrome
|
|
familial infantile bilateral striatal necrosis
|
|
familial infantile myoclonic epilepsy
|
|
familial intestinal malrotation-facial anomalies syndrome
|
|
familial intrahepatic cholestasis
|
|
familial isolated arrhythmogenic right ventricular dysplasia
|
|
familial isolated congenital asplenia
|
|
familial isolated deficiency of vitamin E
|
|
familial isolated hyperparathyroidism
|
|
familial isolated pituitary adenoma
|
|
familial juvenile hyperuricemic nephropathy
|
|
familial juvenile hyperuricemic nephropathy type 1
|
|
familial juvenile hyperuricemic nephropathy type 2
|
|
familial lipoprotein lipase deficiency
|
|
familial long QT syndrome
|
|
familial male-limited precocious puberty
|
|
familial medullary thyroid carcinoma
|
|
familial melanoma
|
|
familial meningioma
|
|
familial mitral valve prolapse
|
|
familial monosomy 7 syndrome
|
|
familial mucolipidosis
|
|
familial multiple meningioma
|
|
familial multiple nevi flammei
|
|
familial multiple trichoepithelioma
|
|
familial myelofibrosis
|
|
familial nephrotic syndrome
|
|
familial nonmedullary thyroid carcinoma
|
|
familial or sporadic hemiplegic migraine
|
|
familial osteosclerosis
|
|
familial ovarian cancer
|
|
familial ovarian carcinoma
|
|
familial pancreatic carcinoma
|
|
familial papillary or follicular thyroid carcinoma
|
|
familial partial epilepsy
|
|
familial partial lipodystrophy
|
|
familial partial lipodystrophy, Dunnigan type
|
|
familial periodic paralysis
|
|
familial pityriasis rubra pilaris
|
|
familial polycythemia
|
|
familial porencephaly
|
|
familial porphyria cutanea tarda
|
|
familial primary hyperparathyroidism
|
|
familial primary hypomagnesemia
|
|
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
|
|
familial primary hypomagnesemia with hypocalcuria
|
|
familial primary hypomagnesemia with normocalciuria and normocalcemia
|
|
familial primary hypomagnesemia with normocalcuria
|
|
familial primary localized cutaneous amyloidosis
|
|
familial primary pulmonary hypoplasia
|
|
familial progressive hyper- and hypopigmentation
|
|
familial progressive hyperpigmentation
|
|
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
|
|
familial prostate carcinoma
|
|
familial pseudohyperkalemia
|
|
familial renal glucosuria
|
|
familial restrictive cardiomyopathy
|
|
familial retinal arterial macroaneurysm
|
|
familial rhabdoid tumor
|
|
familial scaphocephaly syndrome
|
|
familial scaphocephaly syndrome, McGillivray type
|
|
familial severe combined immunodeficiency
|
|
familial sick sinus syndrome
|
|
familial spontaneous pneumothorax
|
|
familial steroid-resistant nephrotic syndrome with sensorineural deafness
|
|
familial temporal lobe epilepsy 2
|
|
familial temporal lobe epilepsy 5
|
|
familial temporal lobe epilepsy 7
|
|
familial temporal lobe epilepsy 8
|
|
familial thoracic aortic aneurysm and aortic dissection
|
|
familial thrombocytosis
|
|
familial thyroid dyshormonogenesis
|
|
familial thyroid dyshormonogenesis 1
|
|
familial tumoral calcinosis
|
|
familial vesicoureteral reflux
|
|
familial visceral amyloidosis
|
|
familial visceral myopathy
|
|
famililal cerebral cavernous malformations
|
|
fatal familial insomnia
|
|
fatal infantile encephalocardiomyopathy
|
|
fatal infantile hypertonic myofibrillar myopathy
|
|
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
|
|
fatal multiple mitochondrial dysfunctions syndrome
|
|
fatty acyl-CoA reductase 1 deficiency
|
|
fatty acyl-CoA reductase defects
|
|
fatty liver disease
|
|
febrile seizures, familial
|
|
febrile seizures, familial, 1
|
|
febrile seizures, familial, 11
|
|
febrile seizures, familial, 2
|
|
febrile seizures, familial, 3a
|
|
febrile seizures, familial, 3b
|
|
febrile seizures, familial, 4
|
|
febrile seizures, familial, 8
|
|
female infertility
|
|
female infertility due to zona pellucida defect
|
|
female reproductive organ cancer
|
|
female reproductive system disorder
|
|
female reproductive system neoplasm
|
|
ferro-cerebro-cutaneous syndrome
|
|
fetal akinesia deformation sequence
|
|
fetal akinesia deformation sequence 1
|
|
fetal akinesia deformation sequence 2
|
|
fetal akinesia deformation sequence 3
|
|
fetal akinesia deformation sequence 4
|
|
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
|
|
fetal akinesia-cerebral and retinal hemorrhage syndrome
|
|
fetal and neonatal alloimmune thrombocytopenia
|
|
fetal erythroblastosis
|
|
fetal growth restriction
|
|
fetal lower urinary tract obstruction
|
|
fibroblastic neoplasm
|
|
fibrochondrogenesis
|
|
fibrochondrogenesis 1
|
|
fibrochondrogenesis 2
|
|
fibrodysplasia ossificans progressiva
|
|
fibroepithelial polyp
|
|
fibroma
|
|
fibromatosis
|
|
fibromatosis, gingival, 1
|
|
fibromatosis, gingival, 5
|
|
fibromuscular dysplasia, multifocal
|
|
fibronectin glomerulopathy
|
|
fibrosarcoma
|
|
fibrosis of extraocular muscles, congenital, 2
|
|
fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
|
|
fibrosis of extraocular muscles, congenital, 3b
|
|
fibrosis of extraocular muscles, congenital, 5
|
|
fibrosis, neurodegeneration, and cerebral angiomatosis
|
|
filamin-related bone disorder
|
|
first-degree atrioventricular block
|
|
fish eye disease
|
|
fissured tongue
|
|
fleck corneal dystrophy
|
|
focal dermal hypoplasia
|
|
focal dystonia
|
|
focal epilepsy
|
|
focal facial dermal dysplasia
|
|
focal facial dermal dysplasia type III
|
|
focal facial dermal dysplasia type IV
|
|
focal palmoplantar keratoderma
|
|
focal palmoplantar keratoderma with joint keratoses
|
|
focal segmental glomerulosclerosis
|
|
focal segmental glomerulosclerosis 1
|
|
focal segmental glomerulosclerosis 2
|
|
focal segmental glomerulosclerosis 3, susceptibility to
|
|
focal segmental glomerulosclerosis 4, susceptibility to
|
|
focal segmental glomerulosclerosis 5
|
|
focal segmental glomerulosclerosis 6
|
|
focal segmental glomerulosclerosis 7
|
|
focal segmental glomerulosclerosis 8
|
|
focal segmental glomerulosclerosis 9
|
|
focal segmental glomerulosclerosis and neurodevelopmental syndrome
|
|
focal, segmental or multifocal dystonia
|
|
follicular lymphoma
|
|
follicular thyroid adenoma
|
|
formiminoglutamic aciduria
|
|
foveal hypoplasia
|
|
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
|
|
foveal hypoplasia 1
|
|
foveal hypoplasia-presenile cataract syndrome
|
|
fragile X syndrome
|
|
fragile X-associated tremor/ataxia syndrome
|
|
free sialic acid storage disease
|
|
free sialic acid storage disease, infantile form
|
|
fried syndrome
|
|
frontal lobe epilepsy
|
|
frontometaphyseal dysplasia
|
|
frontometaphyseal dysplasia 1
|
|
frontometaphyseal dysplasia 2
|
|
frontonasal dysplasia
|
|
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
|
|
frontonasal dysplasia with alopecia and genital anomaly
|
|
frontorhiny
|
|
frontotemporal dementia
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 1
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 2
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 4
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 5
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
|
|
frontotemporal dementia with motor neuron disease
|
|
fructose-1,6-bisphosphatase deficiency
|
|
fucosidosis
|
|
fucosyltransferase 6 deficiency
|
|
fumaric aciduria
|
|
functional neutrophil defect
|
|
functioning endocrine neoplasm
|
|
functioning pituitary gland adenoma
|
|
functioning pituitary gland neoplasm
|
|
fundus albipunctatus
|
|
fundus dystrophy, pseudoinflammatory, recessive form
|
|
fungal infectious disease
|
|
galactokinase deficiency
|
|
galactose epimerase deficiency
|
|
galactosemia
|
|
galactosemia 4
|
|
galactosialidosis
|
|
gallbladder cancer
|
|
gallbladder carcinoma
|
|
gallbladder disorder
|
|
gallbladder neoplasm
|
|
gamma-amino butyric acid metabolism disorder
|
|
gamma-glutamyl transpeptidase deficiency
|
|
gamma-glutamylcysteine synthetase deficiency
|
|
ganglioglioma
|
|
gangliosidosis
|
|
gastric adenocarcinoma
|
|
gastric adenocarcinoma and proximal polyposis of the stomach
|
|
gastric cancer
|
|
gastric carcinoma
|
|
gastric neoplasm
|
|
gastritis
|
|
gastroenteritis
|
|
gastrointestinal defect and immunodeficiency syndrome
|
|
gastrointestinal defects and immunodeficiency syndrome 1
|
|
gastrointestinal defects and immunodeficiency syndrome 2
|
|
gastrointestinal hamartoma
|
|
gastrointestinal polyp
|
|
gastrointestinal stromal tumor
|
|
gaze palsy, familial horizontal, with progressive scoliosis 1
|
|
gaze palsy, familial horizontal, with progressive scoliosis, 2
|
|
gelatinous drop-like corneal dystrophy
|
|
geleophysic dysplasia
|
|
geleophysic dysplasia 1
|
|
geleophysic dysplasia 2
|
|
geleophysic dysplasia 3
|
|
generalized dominant dystrophic epidermolysis bullosa
|
|
generalized dystonia
|
|
generalized epilepsy with febrile seizures plus
|
|
generalized epilepsy with febrile seizures plus, type 1
|
|
generalized epilepsy with febrile seizures plus, type 10
|
|
generalized epilepsy with febrile seizures plus, type 2
|
|
generalized epilepsy with febrile seizures plus, type 7
|
|
generalized epilepsy with febrile seizures plus, type 9
|
|
generalized epilepsy-paroxysmal dyskinesia syndrome
|
|
generalized junctional epidermolysis bullosa non-Herlitz type
|
|
generalized juvenile polyposis/juvenile polyposis coli
|
|
generalized lipodystrophy
|
|
generalized peeling skin syndrome
|
|
generalized pustular psoriasis
|
|
generalized resistance to thyroid hormone
|
|
genitopatellar syndrome
|
|
genitourinary and/or brain malformation syndrome
|
|
germ cell tumor
|
|
germinoma
|
|
germinomatous germ cell tumor
|
|
geroderma osteodysplastica
|
|
gestational diabetes
|
|
gestational trophoblastic neoplasm
|
|
ghosal hematodiaphyseal dysplasia
|
|
giant axonal neuropathy
|
|
giant axonal neuropathy 1
|
|
giant axonal neuropathy 2
|
|
gingival disorder
|
|
gingival fibromatosis-hypertrichosis syndrome
|
|
gingival overgrowth
|
|
glandular cell neoplasm
|
|
glaucoma
|
|
glaucoma 1, open angle, A
|
|
glaucoma 1, open angle, O
|
|
glaucoma 1, open angle, P
|
|
glaucoma 3, primary congenital, D
|
|
glaucoma 3, primary congenital, E
|
|
glaucoma 3, primary infantile, B
|
|
glaucoma 3A
|
|
glaucoma secondary to spherophakia/ectopia lentis and megalocornea
|
|
glaucoma, normal tension, susceptibility to
|
|
glaucoma, primary closed-angle
|
|
glioblastoma
|
|
glioma
|
|
glioma susceptibility
|
|
glioma susceptibility 1
|
|
glioma susceptibility 2
|
|
glioma susceptibility 3
|
|
glioma susceptibility 7
|
|
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
|
|
global developmental delay with or without impaired intellectual development
|
|
global developmental delay with speech and behavioral abnormalities
|
|
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
|
|
global developmental delay, progressive ataxia, and elevated glutamine
|
|
global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
|
|
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
|
|
glomerular disorder
|
|
glomerulonephritis
|
|
glomerulopathy with fibronectin deposits 2
|
|
glomerulosclerosis
|
|
glomuvenous malformation
|
|
glucocorticoid deficiency 1
|
|
glucocorticoid deficiency 2
|
|
glucocorticoid deficiency 4
|
|
glucocorticoid deficiency 5
|
|
glucocorticoid resistance
|
|
glucocorticoid therapy, response to
|
|
glucocorticoid-remediable aldosteronism
|
|
glucose intolerance
|
|
glucose metabolism disease
|
|
glucose transport disorder
|
|
glucose-galactose malabsorption
|
|
glutamate pyruvate transaminase 2 deficiency
|
|
glutaminase deficiency
|
|
glutaric acidemia IIa
|
|
glutaric acidemia IIb
|
|
glutaric acidemia IIc
|
|
glutaric acidemia type 3
|
|
glutaric aciduria
|
|
glutaryl-CoA dehydrogenase deficiency
|
|
glutathione synthetase deficiency with 5-oxoprolinuria
|
|
glutathione synthetase deficiency without 5-oxoprolinuria
|
|
gluthathione peroxidase deficiency
|
|
glyceronephosphate O-acyltransferase deficiency
|
|
glycine N-methyltransferase deficiency
|
|
glycine encephalopathy
|
|
glycine encephalopathy 1
|
|
glycine encephalopathy 2
|
|
glycine metabolism disease
|
|
glycogen storage disease I
|
|
glycogen storage disease II
|
|
glycogen storage disease III
|
|
glycogen storage disease IXa1
|
|
glycogen storage disease IXa2
|
|
glycogen storage disease IXb
|
|
glycogen storage disease IXc
|
|
glycogen storage disease IXd
|
|
glycogen storage disease Ib
|
|
glycogen storage disease V
|
|
glycogen storage disease VI
|
|
glycogen storage disease VII
|
|
glycogen storage disease XV
|
|
glycogen storage disease due to GLUT2 deficiency
|
|
glycogen storage disease due to acid maltase deficiency, late-onset
|
|
glycogen storage disease due to aldolase A deficiency
|
|
glycogen storage disease due to glucose-6-phosphatase deficiency type IA
|
|
glycogen storage disease due to glycogen branching enzyme deficiency
|
|
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
|
|
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
|
|
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
|
|
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
|
|
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
|
|
glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
|
|
glycogen storage disease due to lactate dehydrogenase deficiency
|
|
glycogen storage disease due to liver phosphorylase kinase deficiency
|
|
glycogen storage disease due to muscle and heart glycogen synthase deficiency
|
|
glycogen storage disease due to muscle beta-enolase deficiency
|
|
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
|
|
glycogen storage disease due to phosphoglycerate mutase deficiency
|
|
glycogen storage disease type 1 due to SLC37A4 mutation
|
|
glycogen storage disorder due to hepatic glycogen synthase deficiency
|
|
glycoprotein metabolism disease
|
|
glycoprotein storage disease
|
|
glycoproteinosis
|
|
glycosylphosphatidylinositol biosynthesis defect 15
|
|
glycosylphosphatidylinositol biosynthesis defect 16
|
|
glycosylphosphatidylinositol biosynthesis defect 17
|
|
glycosylphosphatidylinositol biosynthesis defect 18
|
|
glycosylphosphatidylinositol biosynthesis defect 21
|
|
glycosylphosphatidylinositol biosynthesis defect 25
|
|
gnathodiaphyseal dysplasia
|
|
gnb5-related intellectual disability-cardiac arrhythmia syndrome
|
|
goiter
|
|
goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
|
|
gonadal agenesis
|
|
gonadal disorder
|
|
gonadal dysgenesis
|
|
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
|
|
gonadal germ cell tumor
|
|
gonosome anomaly
|
|
gout
|
|
grade II glioma
|
|
grade III glioma
|
|
graft versus host disease
|
|
graft-versus-host disease, susceptibility to
|
|
grange syndrome
|
|
granular cell cancer
|
|
granular cell tumor
|
|
granular corneal dystrophy type I
|
|
granular corneal dystrophy type II
|
|
granulocytopenia with immunoglobulin abnormality
|
|
granulomatous disease, chronic, X-linked
|
|
granulomatous disease, chronic, autosomal recessive, 5
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
|
|
granulosa cell tumor
|
|
gray platelet syndrome
|
|
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
|
|
growth delay due to insulin-like growth factor I resistance
|
|
growth delay due to insulin-like growth factor type 1 deficiency
|
|
growth hormone insensitivity syndrome
|
|
growth hormone insensitivity syndrome with immune dysregulation
|
|
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
|
|
growth hormone insensitivity with immune dysregulation 1, autosomal recessive
|
|
growth hormone secreting pituitary adenoma 1
|
|
growth hormone-producing pituitary gland adenoma
|
|
growth hormone-producing pituitary gland neoplasm
|
|
growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
|
|
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
|
|
guanidinoacetate methyltransferase deficiency
|
|
gynecomastia disorder
|
|
habitual spontaneous abortion
|
|
hair anomaly
|
|
hair follicle neoplasm
|
|
hamartoma
|
|
hand-foot-genital syndrome
|
|
harderoporphyria
|
|
hatipoglu immunodeficiency syndrome
|
|
hawkinsinuria
|
|
head and neck cancer
|
|
head and neck carcinoma
|
|
head and neck neoplasm
|
|
head and neck paraganglioma
|
|
head and neck squamous cell carcinoma
|
|
headache disorder
|
|
hearing disorder
|
|
hearing loss disorder
|
|
hearing loss, X-linked 1
|
|
hearing loss, X-linked 4
|
|
hearing loss, X-linked 6
|
|
hearing loss, autosomal dominant 34, with or without inflammation
|
|
hearing loss, autosomal dominant 37
|
|
hearing loss, autosomal dominant 71
|
|
hearing loss, autosomal dominant 72
|
|
hearing loss, autosomal dominant 73
|
|
hearing loss, autosomal dominant 74
|
|
hearing loss, autosomal dominant 75
|
|
hearing loss, autosomal dominant 76
|
|
hearing loss, autosomal dominant 77
|
|
hearing loss, autosomal dominant 78
|
|
hearing loss, autosomal dominant 79
|
|
hearing loss, autosomal dominant 80
|
|
hearing loss, autosomal dominant 81
|
|
hearing loss, autosomal dominant 82
|
|
hearing loss, autosomal dominant 83
|
|
hearing loss, autosomal dominant 84
|
|
hearing loss, autosomal dominant 85
|
|
hearing loss, autosomal dominant 86
|
|
hearing loss, autosomal dominant 87
|
|
hearing loss, autosomal dominant 88
|
|
hearing loss, autosomal dominant 89
|
|
hearing loss, autosomal dominant 90
|
|
hearing loss, autosomal recessive
|
|
hearing loss, autosomal recessive 100
|
|
hearing loss, autosomal recessive 106
|
|
hearing loss, autosomal recessive 107
|
|
hearing loss, autosomal recessive 108
|
|
hearing loss, autosomal recessive 109
|
|
hearing loss, autosomal recessive 110
|
|
hearing loss, autosomal recessive 111
|
|
hearing loss, autosomal recessive 112
|
|
hearing loss, autosomal recessive 113
|
|
hearing loss, autosomal recessive 114
|
|
hearing loss, autosomal recessive 115
|
|
hearing loss, autosomal recessive 116
|
|
hearing loss, autosomal recessive 117
|
|
hearing loss, autosomal recessive 119
|
|
hearing loss, autosomal recessive 120
|
|
hearing loss, autosomal recessive 122
|
|
hearing loss, autosomal recessive 123
|
|
hearing loss, autosomal recessive 57
|
|
hearing loss, autosomal recessive 94
|
|
hearing loss, autosomal recessive 99
|
|
hearing loss, mixed conductive-sensorineural
|
|
hearing loss, sensorineural, autosomal-mitochondrial type
|
|
heart and brain malformation syndrome
|
|
heart conduction disease
|
|
heart defect - tongue hamartoma - polysyndactyly syndrome
|
|
heart disorder
|
|
heart failure
|
|
heart neoplasm
|
|
heart septal defect
|
|
heart valve disorder
|
|
heart, malformation of
|
|
heart-hand syndrome
|
|
heart-hand syndrome, Slovenian type
|
|
heavy metal poisoning
|
|
helicoid peripapillary chorioretinal degeneration
|
|
hemangioblastoma
|
|
hemangioendothelioma
|
|
hemangioma
|
|
hemangioma of retina
|
|
hemangioma, capillary infantile, susceptibility to
|
|
hematologic disorder
|
|
hematopoietic and lymphoid cell neoplasm
|
|
hematopoietic and lymphoid system neoplasm
|
|
heme oxygenase 1 deficiency
|
|
hemimegalencephaly
|
|
hemiparkinsonism-hemiatrophy syndrome
|
|
hemiplegia
|
|
hemochromatosis type 1
|
|
hemochromatosis type 2
|
|
hemochromatosis type 2A
|
|
hemochromatosis type 2B
|
|
hemochromatosis type 3
|
|
hemochromatosis type 4
|
|
hemochromatosis type 5
|
|
hemoglobin D disease
|
|
hemoglobin E disease
|
|
hemoglobin E-beta-thalassemia syndrome
|
|
hemoglobin H disease
|
|
hemoglobin M disease
|
|
hemoglobinopathy
|
|
hemoglobinopathy Toms River
|
|
hemoglobinuria
|
|
hemolytic anemia
|
|
hemolytic anemia due to adenylate kinase deficiency
|
|
hemolytic anemia due to diphosphoglycerate mutase deficiency
|
|
hemolytic anemia due to erythrocyte adenosine deaminase overproduction
|
|
hemolytic anemia due to glucophosphate isomerase deficiency
|
|
hemolytic anemia due to glutathione reductase deficiency
|
|
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
|
|
hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
|
|
hemolytic uremic syndrome, atypical, susceptibility to, 1
|
|
hemolytic-uremic syndrome
|
|
hemophagocytic lymphohistiocytosis, familial, 6
|
|
hemophagocytic syndrome
|
|
hemophilia
|
|
hemophilia A
|
|
hemophilia B
|
|
hemophilia B leyden
|
|
hemorrhage, intracerebral, susceptibility to
|
|
hemorrhagic disease
|
|
hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
|
|
hemosiderosis
|
|
hennekam lymphangiectasia-lymphedema syndrome 3
|
|
heparin cofactor 2 deficiency
|
|
hepatic adenomas, familial
|
|
hepatic porphyria
|
|
hepatic vascular disorder
|
|
hepatic veno-occlusive disease
|
|
hepatic veno-occlusive disease-immunodeficiency syndrome
|
|
hepatitis B virus, susceptibility to
|
|
hepatitis C virus, susceptibility to
|
|
hepatitis, fulminant viral, susceptibility to
|
|
hepatobiliary benign neoplasm
|
|
hepatobiliary disorder
|
|
hepatobiliary neoplasm
|
|
hepatoblastoma
|
|
hepatocellular adenoma
|
|
hepatocellular carcinoma
|
|
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
|
|
hepatoerythropoietic porphyria
|
|
hepatorenocardiac degenerative fibrosis
|
|
hereditary North American Indian childhood cirrhosis
|
|
hereditary Wilms tumor
|
|
hereditary amyloidosis
|
|
hereditary angioedema
|
|
hereditary angioedema type 1
|
|
hereditary angioedema type 2
|
|
hereditary angioedema type 3
|
|
hereditary angioedema with C1Inh deficiency
|
|
hereditary antithrombin deficiency
|
|
hereditary arterial and articular multiple calcification syndrome
|
|
hereditary ataxia
|
|
hereditary attention deficit-hyperactivity disorder
|
|
hereditary breast carcinoma
|
|
hereditary breast ovarian cancer syndrome
|
|
hereditary cerebellar ataxia
|
|
hereditary chronic pancreatitis
|
|
hereditary clear cell renal cell carcinoma
|
|
hereditary continuous muscle fiber activity
|
|
hereditary coproporphyria
|
|
hereditary cryohydrocytosis with reduced stomatin
|
|
hereditary dementia
|
|
hereditary diffuse gastric adenocarcinoma
|
|
hereditary disease
|
|
hereditary disorder of connective tissue
|
|
hereditary elliptocytosis
|
|
hereditary endocrine growth disease
|
|
hereditary epidermal appendage anomaly
|
|
hereditary episodic ataxia
|
|
hereditary folate malabsorption
|
|
hereditary fructose intolerance
|
|
hereditary gallbladder disorder
|
|
hereditary gastric cancer
|
|
hereditary gingival fibromatosis
|
|
hereditary glaucoma
|
|
hereditary hemochromatosis
|
|
hereditary hemolytic uremic syndrome
|
|
hereditary hemophagocytic lymphohistiocytosis
|
|
hereditary hemorrhagic telangiectasia
|
|
hereditary hyperbilirubinemia
|
|
hereditary hypercarotenemia and vitamin A deficiency
|
|
hereditary hyperekplexia
|
|
hereditary hyperferritinemia with congenital cataracts
|
|
hereditary hyperparathyroidism
|
|
hereditary hypoparathyroidism
|
|
hereditary hypophosphatemic rickets
|
|
hereditary hypophosphatemic rickets with hypercalciuria
|
|
hereditary hypotrichosis with recurrent skin vesicles
|
|
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
|
|
hereditary inclusion-body myopathy
|
|
hereditary intrinsic factor deficiency
|
|
hereditary leiomyomatosis and renal cell cancer
|
|
hereditary lethal multiple congenital anomalies/dysmorphic syndrome
|
|
hereditary lipodystrophy
|
|
hereditary macular dystrophy
|
|
hereditary methemoglobinemia
|
|
hereditary mixed polyposis syndrome
|
|
hereditary motor and sensory neuropathy
|
|
hereditary motor and sensory neuropathy type 6
|
|
hereditary motor and sensory neuropathy, Okinawa type
|
|
hereditary motor neuron disease
|
|
hereditary mucoepithelial dysplasia
|
|
hereditary mucosal leukokeratosis
|
|
hereditary multiple osteochondromas
|
|
hereditary myoglobinuria
|
|
hereditary myopathy with lactic acidosis due to ISCU deficiency
|
|
hereditary narcolepsy
|
|
hereditary neoplastic syndrome
|
|
hereditary nephritis
|
|
hereditary neurological disease
|
|
hereditary neuromuscular disease
|
|
hereditary neuropathy with liability to pressure palsies
|
|
hereditary neutrophilia
|
|
hereditary night blindness
|
|
hereditary nonpolyposis colon cancer
|
|
hereditary optic atrophy
|
|
hereditary optic neuropathy
|
|
hereditary otorhinolaryngologic disease
|
|
hereditary palmoplantar keratoderma
|
|
hereditary palmoplantar keratoderma, Gamborg-Nielsen type
|
|
hereditary papillary renal cell carcinoma
|
|
hereditary periodic fever syndrome
|
|
hereditary peripheral neuropathy
|
|
hereditary persistence of fetal hemoglobin
|
|
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
|
|
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
|
|
hereditary pheochromocytoma-paraganglioma
|
|
hereditary photodermatosis
|
|
hereditary poikiloderma
|
|
hereditary predisposition to infections
|
|
hereditary progressive chorea without dementia
|
|
hereditary pulmonary alveolar proteinosis
|
|
hereditary recurrent myoglobinuria
|
|
hereditary renal cell carcinoma
|
|
hereditary renal hypouricemia
|
|
hereditary retinoblastoma
|
|
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
|
|
hereditary sensorimotor neuropathy with hyperelastic skin
|
|
hereditary sensory and autonomic neuropathy
|
|
hereditary sensory and autonomic neuropathy type 1
|
|
hereditary sensory and autonomic neuropathy type 2
|
|
hereditary sensory and autonomic neuropathy type 4
|
|
hereditary sensory and autonomic neuropathy type 5
|
|
hereditary sensory and autonomic neuropathy type 6
|
|
hereditary sensory and autonomic neuropathy type 7
|
|
hereditary sensory and autonomic neuropathy with spastic paraplegia
|
|
hereditary sensory neuropathy-deafness-dementia syndrome
|
|
hereditary site-specific ovarian cancer syndrome
|
|
hereditary skeletal muscle disorder
|
|
hereditary skin disorder
|
|
hereditary spastic paraplegia
|
|
hereditary spastic paraplegia 10
|
|
hereditary spastic paraplegia 11
|
|
hereditary spastic paraplegia 12
|
|
hereditary spastic paraplegia 13
|
|
hereditary spastic paraplegia 15
|
|
hereditary spastic paraplegia 17
|
|
hereditary spastic paraplegia 18
|
|
hereditary spastic paraplegia 2
|
|
hereditary spastic paraplegia 23
|
|
hereditary spastic paraplegia 26
|
|
hereditary spastic paraplegia 28
|
|
hereditary spastic paraplegia 30
|
|
hereditary spastic paraplegia 31
|
|
hereditary spastic paraplegia 33
|
|
hereditary spastic paraplegia 35
|
|
hereditary spastic paraplegia 39
|
|
hereditary spastic paraplegia 3A
|
|
hereditary spastic paraplegia 4
|
|
hereditary spastic paraplegia 42
|
|
hereditary spastic paraplegia 43
|
|
hereditary spastic paraplegia 44
|
|
hereditary spastic paraplegia 45
|
|
hereditary spastic paraplegia 46
|
|
hereditary spastic paraplegia 47
|
|
hereditary spastic paraplegia 48
|
|
hereditary spastic paraplegia 49
|
|
hereditary spastic paraplegia 50
|
|
hereditary spastic paraplegia 51
|
|
hereditary spastic paraplegia 52
|
|
hereditary spastic paraplegia 53
|
|
hereditary spastic paraplegia 54
|
|
hereditary spastic paraplegia 55
|
|
hereditary spastic paraplegia 56
|
|
hereditary spastic paraplegia 57
|
|
hereditary spastic paraplegia 5A
|
|
hereditary spastic paraplegia 6
|
|
hereditary spastic paraplegia 61
|
|
hereditary spastic paraplegia 62
|
|
hereditary spastic paraplegia 63
|
|
hereditary spastic paraplegia 64
|
|
hereditary spastic paraplegia 7
|
|
hereditary spastic paraplegia 72
|
|
hereditary spastic paraplegia 73
|
|
hereditary spastic paraplegia 74
|
|
hereditary spastic paraplegia 75
|
|
hereditary spastic paraplegia 77
|
|
hereditary spastic paraplegia 8
|
|
hereditary spastic paraplegia 9A
|
|
hereditary spherocytosis
|
|
hereditary spherocytosis type 1
|
|
hereditary spherocytosis type 2
|
|
hereditary spherocytosis type 3
|
|
hereditary spherocytosis type 4
|
|
hereditary spherocytosis type 5
|
|
hereditary stomatocytosis
|
|
hereditary thrombocytopenia and hematologic cancer predisposition syndrome
|
|
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
|
|
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
|
|
hereditary thrombophilia due to congenital protein C deficiency
|
|
hereditary thrombophilia due to congenital protein S deficiency
|
|
hereditary von Willebrand disease
|
|
hereditary xanthinuria
|
|
heritable pulmonary arterial hypertension
|
|
hernia, anterior diaphragmatic
|
|
herpes simplex encephalitis
|
|
herpes simplex encephalitis, susceptibility to, 1
|
|
herpes simplex encephalitis, susceptibility to, 3
|
|
herpes simplex encephalitis, susceptibility to, 4
|
|
herpes simplex encephalitis, susceptibility to, 7
|
|
herpes simplex infectious disease
|
|
heterochromia iridis
|
|
heterotaxy, visceral, 1, X-linked
|
|
heterotaxy, visceral, 10, autosomal, with male infertility
|
|
heterotaxy, visceral, 11, autosomal, with male infertility
|
|
heterotaxy, visceral, 12, autosomal
|
|
heterotaxy, visceral, 2, autosomal
|
|
heterotaxy, visceral, 4, autosomal
|
|
heterotaxy, visceral, 5, autosomal
|
|
heterotaxy, visceral, 6, autosomal
|
|
heterotaxy, visceral, 7, autosomal
|
|
heterotaxy, visceral, 8, autosomal
|
|
heterotaxy, visceral, 9, autosomal, with male infertility
|
|
heterotopia, periventricular, X-linked dominant
|
|
hiatus hernia
|
|
hidradenitis
|
|
hidradenitis suppurativa
|
|
high grade astrocytic tumor
|
|
high grade malignant neoplasm
|
|
high grade surface osteosarcoma
|
|
high myopia-sensorineural deafness syndrome
|
|
high-grade astrocytoma with piloid features
|
|
hilar cholangiocarcinoma
|
|
hip dysplasia, Beukes type
|
|
histidinemia
|
|
histiocytoid cardiomyopathy
|
|
histiocytoma
|
|
histiocytosis
|
|
holocarboxylase synthetase deficiency
|
|
holoprosencephaly
|
|
holoprosencephaly 1
|
|
holoprosencephaly 11
|
|
holoprosencephaly 12 with or without pancreatic agenesis
|
|
holoprosencephaly 13, X-linked
|
|
holoprosencephaly 14
|
|
holoprosencephaly 2
|
|
holoprosencephaly 3
|
|
holoprosencephaly 4
|
|
holoprosencephaly 5
|
|
holoprosencephaly 7
|
|
holoprosencephaly 9
|
|
holoprosencephaly-hypokinesia-congenital contractures syndrome
|
|
homocystinuria
|
|
homocystinuria due to methylene tetrahydrofolate reductase deficiency
|
|
homocystinuria without methylmalonic aciduria
|
|
homozygous familial hypercholesterolemia
|
|
horizontal gaze palsy with progressive scoliosis
|
|
human HOXA1 syndromes
|
|
human disease
|
|
human herpesvirus 8-related tumor
|
|
human prion disease
|
|
humerofemoral hypoplasia with radiotibial ray deficiency
|
|
hyaline body myopathy
|
|
hyaline fibromatosis syndrome
|
|
hydatidiform mole
|
|
hydatidiform mole, recurrent, 1
|
|
hydatidiform mole, recurrent, 2
|
|
hydatidiform mole, recurrent, 3
|
|
hydatidiform mole, recurrent, 4
|
|
hydranencephaly
|
|
hydrocephalus
|
|
hydrocephalus, congenital communicating, 1
|
|
hydrocephalus, congenital, 3, with brain anomalies
|
|
hydrocephalus, congenital, 5, susceptibility to
|
|
hydrocephalus, nonsyndromic, autosomal recessive 1
|
|
hydrocephalus, nonsyndromic, autosomal recessive 2
|
|
hydrolethalus syndrome
|
|
hydrolethalus syndrome 1
|
|
hydrolethalus syndrome 2
|
|
hydronephrosis
|
|
hydrops fetalis
|
|
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
|
|
hydroxyprolinemia
|
|
hyper-IgE recurrent infection syndrome 1, autosomal dominant
|
|
hyper-IgE recurrent infection syndrome 3, autosomal recessive
|
|
hyper-IgE recurrent infection syndrome 4, autosomal recessive
|
|
hyper-IgE recurrent infection syndrome 4A, autosomal dominant
|
|
hyper-IgE recurrent infection syndrome 5, autosomal recessive
|
|
hyper-IgE syndrome
|
|
hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
|
|
hyper-IgM syndrome
|
|
hyper-IgM syndrome type 1
|
|
hyper-IgM syndrome type 2
|
|
hyper-IgM syndrome type 3
|
|
hyper-IgM syndrome type 5
|
|
hyperaldosteronism
|
|
hyperaldosteronism, familial, type IV
|
|
hyperalphalipoproteinemia
|
|
hyperammonemia due to N-acetylglutamate synthase deficiency
|
|
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
|
|
hyperargininemia
|
|
hyperbilirubinemia
|
|
hyperbiliverdinemia
|
|
hypercalcemia disease
|
|
hypercalcemia, infantile
|
|
hypercalcemia, infantile, 1
|
|
hypercalcemia, infantile, 2
|
|
hypercalciuria, absorptive, 2
|
|
hypercholanemia, familial
|
|
hypercholanemia, familial 1
|
|
hypercholanemia, familial, 2
|
|
hypercholesterolemia, autosomal dominant, 3
|
|
hypercholesterolemia, autosomal dominant, type B
|
|
hypercholesterolemia, familial, 1
|
|
hypercholesterolemia, familial, 4
|
|
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
|
|
hyperekplexia
|
|
hyperekplexia 1
|
|
hyperekplexia 2
|
|
hyperekplexia 3
|
|
hyperekplexia 4
|
|
hyperemesis gravidarum, susceptibility to
|
|
hypereosinophilic syndrome
|
|
hyperglycemia
|
|
hyperglycinuria
|
|
hyperhidrosis palmaris ET plantaris
|
|
hyperhomocysteinemia
|
|
hyperimmunoglobulin syndrome
|
|
hyperimmunoglobulinemia D with periodic fever
|
|
hyperinsulinemic hypoglycemia
|
|
hyperinsulinemic hypoglycemia, familial, 1
|
|
hyperinsulinemic hypoglycemia, familial, 2
|
|
hyperinsulinemic hypoglycemia, familial, 4
|
|
hyperinsulinemic hypoglycemia, familial, 8
|
|
hyperinsulinism
|
|
hyperinsulinism due to HNF1A deficiency
|
|
hyperinsulinism due to HNF4A deficiency
|
|
hyperinsulinism due to INSR deficiency
|
|
hyperinsulinism due to glucokinase deficiency
|
|
hyperinsulinism-hyperammonemia syndrome
|
|
hyperkalemic periodic paralysis
|
|
hyperlipidemia
|
|
hyperlipidemia due to hepatic triglyceride lipase deficiency
|
|
hyperlipidemia, combined, 1
|
|
hyperlipidemia, familial combined, LPL related
|
|
hyperlipoproteinemia
|
|
hyperlipoproteinemia type 3
|
|
hyperlipoproteinemia type V
|
|
hyperlipoproteinemia, type 1D
|
|
hyperlysinemia
|
|
hypermanganesemia with dystonia
|
|
hypermanganesemia with dystonia 2
|
|
hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
|
|
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
|
|
hyperopia
|
|
hyperopia, high
|
|
hyperostosis
|
|
hyperostosis corticalis generalisata
|
|
hyperostosis cranialis interna
|
|
hyperparathyroidism
|
|
hyperparathyroidism 1
|
|
hyperparathyroidism 2 with jaw tumors
|
|
hyperparathyroidism 4
|
|
hyperparathyroidism, transient neonatal
|
|
hyperphenylalaninemia due to DNAJC12 deficiency
|
|
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
|
|
hyperphosphatasia with intellectual disability syndrome 1
|
|
hyperphosphatasia with intellectual disability syndrome 2
|
|
hyperphosphatasia with intellectual disability syndrome 3
|
|
hyperphosphatasia with intellectual disability syndrome 4
|
|
hyperphosphatasia with intellectual disability syndrome 5
|
|
hyperphosphatasia with intellectual disability syndrome 6
|
|
hyperphosphatasia-intellectual disability syndrome
|
|
hyperpigmentation of the skin
|
|
hyperpigmentation with or without hypopigmentation, familial progressive
|
|
hyperpituitarism
|
|
hyperplasia
|
|
hyperplastic polyposis syndrome
|
|
hyperproinsulinemia
|
|
hyperprolactinemia
|
|
hyperprolinemia
|
|
hyperprolinemia type 1
|
|
hyperprolinemia type 2
|
|
hyperreflexia
|
|
hypersensitivity reaction disease
|
|
hypersulfaturia
|
|
hypertelorism and tetralogy of fallot
|
|
hypertension, pregnancy-induced
|
|
hypertensive disorder
|
|
hyperthyroidism
|
|
hyperthyroxinemia
|
|
hyperthyroxinemia, dystransthyretinemic
|
|
hyperthyroxinemia, familial dysalbuminemic
|
|
hypertrichosis
|
|
hypertrichosis of eyelid
|
|
hypertrichotic osteochondrodysplasia Cantu type
|
|
hypertriglyceridemia
|
|
hypertriglyceridemia 1
|
|
hypertriglyceridemia 2
|
|
hypertrophic cardiomyopathy
|
|
hypertrophic cardiomyopathy 1
|
|
hypertrophic cardiomyopathy 10
|
|
hypertrophic cardiomyopathy 11
|
|
hypertrophic cardiomyopathy 12
|
|
hypertrophic cardiomyopathy 13
|
|
hypertrophic cardiomyopathy 14
|
|
hypertrophic cardiomyopathy 15
|
|
hypertrophic cardiomyopathy 16
|
|
hypertrophic cardiomyopathy 17
|
|
hypertrophic cardiomyopathy 18
|
|
hypertrophic cardiomyopathy 19
|
|
hypertrophic cardiomyopathy 2
|
|
hypertrophic cardiomyopathy 20
|
|
hypertrophic cardiomyopathy 21
|
|
hypertrophic cardiomyopathy 25
|
|
hypertrophic cardiomyopathy 26
|
|
hypertrophic cardiomyopathy 3
|
|
hypertrophic cardiomyopathy 4
|
|
hypertrophic cardiomyopathy 6
|
|
hypertrophic cardiomyopathy 7
|
|
hypertrophic cardiomyopathy 8
|
|
hypertrophic cardiomyopathy 9
|
|
hypertrophic osteoarthropathy, primary, autosomal dominant
|
|
hypertrophic osteoarthropathy, primary, autosomal recessive, 1
|
|
hypertrophic osteoarthropathy, primary, autosomal recessive, 2
|
|
hypertrophic pyloric stenosis
|
|
hypertrophy of breast
|
|
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
|
|
hyperuricemic nephropathy, familial juvenile type 3
|
|
hyperuricemic nephropathy, familial juvenile type 4
|
|
hypervalinemia and hyperleucine-isoleucinemia
|
|
hypnic headache
|
|
hypoaldosteronism disease
|
|
hypoalphalipoproteinemia
|
|
hypoalphalipoproteinemia, primary, 1
|
|
hypoalphalipoproteinemia, primary, 2
|
|
hypoalphalipoproteinemia, primary, 2, intermediate
|
|
hypobetalipoproteinemia
|
|
hypocalcemic rickets
|
|
hypochondrogenesis
|
|
hypochondroplasia
|
|
hypochromic anemia
|
|
hypochromic microcytic anemia
|
|
hypoglycemia
|
|
hypoglycemia, leucine-induced
|
|
hypogonadism
|
|
hypogonadotropic hypogonadism
|
|
hypogonadotropic hypogonadism 1 with or without anosmia
|
|
hypogonadotropic hypogonadism 10 with or without anosmia
|
|
hypogonadotropic hypogonadism 11 with or without anosmia
|
|
hypogonadotropic hypogonadism 12 with or without anosmia
|
|
hypogonadotropic hypogonadism 13 with or without anosmia
|
|
hypogonadotropic hypogonadism 14 with or without anosmia
|
|
hypogonadotropic hypogonadism 15 with or without anosmia
|
|
hypogonadotropic hypogonadism 16 with or without anosmia
|
|
hypogonadotropic hypogonadism 17 with or without anosmia
|
|
hypogonadotropic hypogonadism 18 with or without anosmia
|
|
hypogonadotropic hypogonadism 19 with or without anosmia
|
|
hypogonadotropic hypogonadism 2 with or without anosmia
|
|
hypogonadotropic hypogonadism 20 with or without anosmia
|
|
hypogonadotropic hypogonadism 21 with or without anosmia
|
|
hypogonadotropic hypogonadism 22 with or without anosmia
|
|
hypogonadotropic hypogonadism 23 with or without anosmia
|
|
hypogonadotropic hypogonadism 24 without anosmia
|
|
hypogonadotropic hypogonadism 25 with anosmia
|
|
hypogonadotropic hypogonadism 26 with or without anosmia
|
|
hypogonadotropic hypogonadism 27 without anosmia
|
|
hypogonadotropic hypogonadism 3 with or without anosmia
|
|
hypogonadotropic hypogonadism 4 with or without anosmia
|
|
hypogonadotropic hypogonadism 5 with or without anosmia
|
|
hypogonadotropic hypogonadism 6 with or without anosmia
|
|
hypogonadotropic hypogonadism 7 with or without anosmia
|
|
hypogonadotropic hypogonadism 8 with or without anosmia
|
|
hypogonadotropic hypogonadism 9 with or without anosmia
|
|
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
|
|
hypohidrotic ectodermal dysplasia
|
|
hypoinsulinemic hypoglycemia and body hemihypertrophy
|
|
hypokalemic periodic paralysis
|
|
hypokalemic periodic paralysis, type 1
|
|
hypokalemic periodic paralysis, type 2
|
|
hypokalemic tubulopathy and deafness
|
|
hypolipoproteinemia
|
|
hypomagnesemia 7, renal, with or without dilated cardiomyopathy
|
|
hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
|
|
hypomagnesemia, seizures, and intellectual disability
|
|
hypomagnesemia, seizures, and intellectual disability 1
|
|
hypomagnesemia, seizures, and intellectual disability 2
|
|
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
|
|
hypomyelinating leukodystrophy 10
|
|
hypomyelinating leukodystrophy 11
|
|
hypomyelinating leukodystrophy 12
|
|
hypomyelinating leukodystrophy 13
|
|
hypomyelinating leukodystrophy 2
|
|
hypomyelinating leukodystrophy 3
|
|
hypomyelinating leukodystrophy 4
|
|
hypomyelinating leukodystrophy 5
|
|
hypomyelinating leukodystrophy 6
|
|
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
|
|
hypomyelinating leukodystrophy 9
|
|
hypomyelination with brain stem and spinal cord involvement and leg spasticity
|
|
hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
|
|
hypoparathyroidism
|
|
hypoparathyroidism, familial isolated 1
|
|
hypoparathyroidism, familial isolated, 2
|
|
hypoparathyroidism-deafness-renal disease syndrome
|
|
hypoparathyroidism-retardation-dysmorphism syndrome
|
|
hypophosphatasia
|
|
hypophosphatemia
|
|
hypophosphatemic nephrolithiasis/osteoporosis 1
|
|
hypophosphatemic nephrolithiasis/osteoporosis 2
|
|
hypophosphatemic rickets
|
|
hypophosphatemic rickets, X-linked recessive
|
|
hypophosphatemic rickets, autosomal recessive, 1
|
|
hypophosphatemic rickets, autosomal recessive, 2
|
|
hypopigmentation of the skin
|
|
hypopigmentation, organomegaly, and delayed myelination and development
|
|
hypopigmentation-punctate palmoplantar keratoderma syndrome
|
|
hypopituitarism
|
|
hypoplasminogenemia
|
|
hypoplastic left heart syndrome
|
|
hypoplastic left heart syndrome 1
|
|
hypoplastic left heart syndrome 2
|
|
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
|
|
hypoplastic right heart syndrome
|
|
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
|
hypoproteinemia, hypercatabolic
|
|
hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
|
|
hypospadias
|
|
hypospadias 1, X-linked
|
|
hypospadias 2, X-linked
|
|
hypotaurinemic retinal degeneration and cardiomyopathy
|
|
hypotensive disorder
|
|
hypothalamic disorder
|
|
hypothalamic neoplasm
|
|
hypothyroidism
|
|
hypothyroidism due to TSH receptor mutations
|
|
hypothyroidism, congenital, nongoitrous
|
|
hypothyroidism, congenital, nongoitrous, 2
|
|
hypothyroidism, congenital, nongoitrous, 5
|
|
hypothyroidism, congenital, nongoitrous, 7
|
|
hypothyroidism, congenital, nongoitrous, 8
|
|
hypothyroidism, congenital, nongoitrous, 9
|
|
hypotonia with lactic acidemia and hyperammonemia
|
|
hypotonia, ataxia, and delayed development syndrome
|
|
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
|
|
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
|
|
hypotonia, infantile, with psychomotor retardation and characteristic facies
|
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 1
|
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
|
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
|
|
hypotonia-failure to thrive-microcephaly syndrome
|
|
hypotrichosis
|
|
hypotrichosis 1
|
|
hypotrichosis 11
|
|
hypotrichosis 12
|
|
hypotrichosis 13
|
|
hypotrichosis 14
|
|
hypotrichosis 15
|
|
hypotrichosis 2
|
|
hypotrichosis 3
|
|
hypotrichosis 4
|
|
hypotrichosis 5
|
|
hypotrichosis 6
|
|
hypotrichosis 7
|
|
hypotrichosis 8
|
|
hypotrichosis simplex
|
|
hypotrichosis simplex of the scalp
|
|
hypotrichosis-lymphedema-telangiectasia syndrome
|
|
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
|
|
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
|
|
hypouricemia, renal 1
|
|
hypouricemia, renal, 2
|
|
hypoxanthine guanine phosphoribosyltransferase partial deficiency
|
|
hypoxanthine-guanine phosphoribosyltransferase deficiency
|
|
ichthyosiform erythroderma, corneal involvement, and hearing loss
|
|
ichthyosis
|
|
ichthyosis histrix, Lambert type
|
|
ichthyosis hystrix
|
|
ichthyosis hystrix of Curth-Macklin
|
|
ichthyosis linearis circumflexa
|
|
ichthyosis prematurity syndrome
|
|
ichthyosis vulgaris
|
|
ichthyosis with erythrokeratoderma
|
|
ichthyosis, annular epidermolytic 1
|
|
ichthyosis, annular epidermolytic, 2
|
|
ichthyosis, congenital, autosomal recessive 12
|
|
ichthyosis, congenital, autosomal recessive 13
|
|
ichthyosis, congenital, autosomal recessive 14
|
|
ichthyosis, hystrix-like, with hearing loss
|
|
ichthyosis, lamellar, autosomal dominant
|
|
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
|
|
idiopathic CD4 lymphocytopenia
|
|
idiopathic aplastic anemia
|
|
idiopathic bronchiectasis
|
|
idiopathic camptocormia
|
|
idiopathic cardiomyopathy
|
|
idiopathic copper-associated cirrhosis
|
|
idiopathic disease
|
|
idiopathic hypereosinophilic syndrome
|
|
idiopathic inflammatory myopathy
|
|
idiopathic interstitial pneumonia
|
|
idiopathic juvenile osteoporosis
|
|
idiopathic nephrotic syndrome
|
|
idiopathic pulmonary arterial hypertension
|
|
idiopathic scoliosis
|
|
ileus
|
|
iminoglycinuria
|
|
immune deficiency disease
|
|
immune deficiency, familial variable
|
|
immune dysregulation, autoimmunity, and autoinflammation
|
|
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
|
|
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
|
|
immune system cancer
|
|
immune system disorder
|
|
immuno-osseous dysplasia
|
|
immunodeficiency 101 (varicella zoster virus-specific)
|
|
immunodeficiency 102
|
|
immunodeficiency 104
|
|
immunodeficiency 105
|
|
immunodeficiency 106, susceptibility to viral infections
|
|
immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
|
|
immunodeficiency 109 with lymphoproliferation
|
|
immunodeficiency 113 with autoimmunity and autoinflammation
|
|
immunodeficiency 114, folate-responsive
|
|
immunodeficiency 115 with autoinflammation
|
|
immunodeficiency 117
|
|
immunodeficiency 118
|
|
immunodeficiency 11b with atopic dermatitis
|
|
immunodeficiency 14
|
|
immunodeficiency 14b, autosomal recessive
|
|
immunodeficiency 15a
|
|
immunodeficiency 18
|
|
immunodeficiency 19
|
|
immunodeficiency 23
|
|
immunodeficiency 25
|
|
immunodeficiency 27A
|
|
immunodeficiency 28
|
|
immunodeficiency 31B
|
|
immunodeficiency 32B
|
|
immunodeficiency 33
|
|
immunodeficiency 35
|
|
immunodeficiency 36
|
|
immunodeficiency 37
|
|
immunodeficiency 39
|
|
immunodeficiency 45
|
|
immunodeficiency 47
|
|
immunodeficiency 49
|
|
immunodeficiency 51
|
|
immunodeficiency 53
|
|
immunodeficiency 57
|
|
immunodeficiency 60
|
|
immunodeficiency 61
|
|
immunodeficiency 62
|
|
immunodeficiency 63 with lymphoproliferation and autoimmunity
|
|
immunodeficiency 64
|
|
immunodeficiency 65, susceptibility to viral infections
|
|
immunodeficiency 66
|
|
immunodeficiency 67
|
|
immunodeficiency 69
|
|
immunodeficiency 70
|
|
immunodeficiency 72 with autoinflammation
|
|
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
|
|
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
|
|
immunodeficiency 74, COVID-19-related, X-linked
|
|
immunodeficiency 75
|
|
immunodeficiency 76
|
|
immunodeficiency 77
|
|
immunodeficiency 78 with autoimmunity and developmental delay
|
|
immunodeficiency 79
|
|
immunodeficiency 80 with or without congenital cardiomyopathy
|
|
immunodeficiency 81
|
|
immunodeficiency 82 with systemic inflammation
|
|
immunodeficiency 83, susceptibility to viral infections
|
|
immunodeficiency 84
|
|
immunodeficiency 85 and autoimmunity
|
|
immunodeficiency 86
|
|
immunodeficiency 87 and autoimmunity
|
|
immunodeficiency 88
|
|
immunodeficiency 89 and autoimmunity
|
|
immunodeficiency 91 and hyperinflammation
|
|
immunodeficiency 92
|
|
immunodeficiency 93 and hypertrophic cardiomyopathy
|
|
immunodeficiency 94 with autoinflammation and dysmorphic facies
|
|
immunodeficiency 95
|
|
immunodeficiency 96
|
|
immunodeficiency 97 with autoinflammation
|
|
immunodeficiency 98 with autoinflammation, X-linked
|
|
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
|
|
immunodeficiency disease
|
|
immunodeficiency due to CD25 deficiency
|
|
immunodeficiency due to MASP-2 deficiency
|
|
immunodeficiency due to a classical component pathway complement deficiency
|
|
immunodeficiency due to a late component of complement deficiency
|
|
immunodeficiency due to ficolin3 deficiency
|
|
immunodeficiency, common variable, 1
|
|
immunodeficiency, common variable, 10
|
|
immunodeficiency, common variable, 12
|
|
immunodeficiency, common variable, 14
|
|
immunodeficiency, common variable, 15
|
|
immunodeficiency, common variable, 2
|
|
immunodeficiency, common variable, 3
|
|
immunodeficiency, common variable, 4
|
|
immunodeficiency, common variable, 5
|
|
immunodeficiency, common variable, 6
|
|
immunodeficiency, common variable, 7
|
|
immunodeficiency, developmental delay, and hypohomocysteinemia
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome 1
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome 2
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome 3
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome 4
|
|
immunoglobulin A deficiency 2
|
|
immunoglobulin-mediated membranoproliferative glomerulonephritis
|
|
immunoskeletal dysplasia with neurodevelopmental abnormalities
|
|
impaired renal function disease
|
|
imperforate anus
|
|
impulse control disorder
|
|
in situ carcinoma
|
|
inborn aminoacylase deficiency
|
|
inborn carbohydrate metabolic disorder
|
|
inborn disorder of amino acid and other organic acid metabolism
|
|
inborn disorder of amino acid metabolism
|
|
inborn disorder of amino acid transport
|
|
inborn disorder of aspartate family metabolism
|
|
inborn disorder of bile acid synthesis
|
|
inborn disorder of bilirubin metabolism
|
|
inborn disorder of biogenic amine metabolism and transport
|
|
inborn disorder of branched-chain amino acid metabolism
|
|
inborn disorder of cobalamin metabolism and transport
|
|
inborn disorder of energy metabolism
|
|
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
|
|
inborn disorder of histidine metabolism
|
|
inborn disorder of ketolysis
|
|
inborn disorder of lysine and hydroxylysine metabolism
|
|
inborn disorder of lysosomal amino acid transport
|
|
inborn disorder of methionine cycle and sulfur amino acid metabolism
|
|
inborn disorder of neurotransmitter metabolism and transport
|
|
inborn disorder of ornithine metabolism
|
|
inborn disorder of ornithine or proline metabolism
|
|
inborn disorder of pentose phosphate metabolism
|
|
inborn disorder of peptide metabolism
|
|
inborn disorder of phenylalanine and tyrosine metabolism
|
|
inborn disorder of porphyrin metabolism
|
|
inborn disorder of proline metabolism
|
|
inborn disorder of purine metabolism
|
|
inborn disorder of purine or pyrimidine metabolism
|
|
inborn disorder of pyridoxine metabolism
|
|
inborn disorder of pyrimidine metabolism
|
|
inborn disorder of serine family metabolism
|
|
inborn disorder of the gamma-glutamyl cycle
|
|
inborn disorder of tryptophan metabolism
|
|
inborn error of biotin metabolism
|
|
inborn error of immunity
|
|
inborn errors of metabolism
|
|
inborn glycerol kinase deficiency
|
|
inborn metal metabolism disorder
|
|
inborn mitochondrial metabolism disorder
|
|
inborn mitochondrial myopathy
|
|
inborn organic aciduria
|
|
inborn serine deficiency
|
|
inborn vitamin B12 deficiency
|
|
inborn vitamin metabolic disorder
|
|
inclusion body myopathy and brain white matter abnormalities
|
|
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
|
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
|
|
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
|
|
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
|
|
inclusion body myositis
|
|
incontinentia pigmenti
|
|
indeterminate sex and/or pseudohermaphroditism
|
|
indifference to pain, congenital, autosomal dominant
|
|
indolent B-cell non-Hodgkin lymphoma
|
|
indolent primary cutaneous T-cell lymphoma
|
|
infancy electroclinical syndrome
|
|
infant-type hemispheric glioma
|
|
infantile bilateral striatal necrosis
|
|
infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
|
|
infantile cerebellar-retinal degeneration
|
|
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
|
|
infantile convulsions and choreoathetosis
|
|
infantile epilepsy syndrome
|
|
infantile hemangioma of rare localization
|
|
infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
|
|
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
|
|
infantile liver failure
|
|
infantile liver failure syndrome 1
|
|
infantile liver failure syndrome 2
|
|
infantile liver failure syndrome 3
|
|
infantile myofibromatosis
|
|
infantile neuronal ceroid lipofuscinosis
|
|
infantile osteopetrosis with neuroaxonal dysplasia
|
|
infantile-onset X-linked spinal muscular atrophy
|
|
infantile-onset ascending hereditary spastic paralysis
|
|
infantile-onset epilepsy
|
|
infantile-onset generalized dyskinesia with orofacial involvement
|
|
infantile-onset periodic fever-panniculitis-dermatosis syndrome
|
|
infection-related hemolytic uremic syndrome
|
|
infectious disease
|
|
infectious disorder of the nervous system
|
|
infectious encephalitis
|
|
infertility disorder
|
|
inflammation of heart layer
|
|
inflammatory bowel disease
|
|
inflammatory bowel disease 1
|
|
inflammatory bowel disease 13
|
|
inflammatory bowel disease 17
|
|
inflammatory bowel disease 19
|
|
inflammatory bowel disease 25
|
|
inflammatory bowel disease 28
|
|
inflammatory bowel disease 29
|
|
inflammatory bowel disease 30
|
|
inflammatory bowel disease 5
|
|
inflammatory bowel disease, immunodeficiency, and encephalopathy
|
|
inflammatory disease
|
|
inflammatory poikiloderma with hair abnormalities and acral keratoses
|
|
inflammatory skin and bowel disease, neonatal, 1
|
|
inflammatory skin and bowel disease, neonatal, 2
|
|
influenza, severe, susceptibility to
|
|
infratentorial cancer
|
|
infratentorial neoplasm
|
|
inherited Creutzfeldt-Jakob disease
|
|
inherited Fanconi renotubular syndrome
|
|
inherited acute myeloid leukemia
|
|
inherited aplastic anemia
|
|
inherited auditory system disease
|
|
inherited bleeding disorder, platelet-type
|
|
inherited blood coagulation disorder
|
|
inherited cutis laxa
|
|
inherited deficiency anemia
|
|
inherited disease susceptibility
|
|
inherited dystonia
|
|
inherited epidermolysis bullosa
|
|
inherited fatty acid metabolism disorder
|
|
inherited focal segmental glomerulosclerosis
|
|
inherited glutathione metabolism disease
|
|
inherited glutathione synthetase deficiency
|
|
inherited hemoglobinopathy
|
|
inherited hypertrophic pyloric stenosis
|
|
inherited ichthyosis
|
|
inherited interstitial lung disease
|
|
inherited isolated nail anomaly
|
|
inherited kidney disorder
|
|
inherited lipid metabolism disorder
|
|
inherited lipoic acid biosynthesis defect
|
|
inherited mitral valve disease
|
|
inherited neurodegenerative disorder
|
|
inherited obesity
|
|
inherited oocyte maturation defect
|
|
inherited orthostatic hypotension
|
|
inherited porphyria
|
|
inherited prekallikrein deficiency
|
|
inherited primary ovarian failure
|
|
inherited pseudohypoaldosteronism
|
|
inherited pseudoxanthoma elasticum
|
|
inherited renal tubular disease
|
|
inherited retinal dystrophy
|
|
inherited rippling muscle disease
|
|
inherited sideroblastic anemia
|
|
inherited susceptibility to asthma
|
|
inherited susceptibility to mycobacterial diseases
|
|
inherited thrombocytopenia
|
|
inherited thrombophilia
|
|
inherited thyroid metabolism disease
|
|
inherited torticollis
|
|
inherited vitreoretinopathy
|
|
inner ear disorder
|
|
inosine triphosphatase deficiency
|
|
insomnia
|
|
insulin-resistance syndrome type A
|
|
integumentary system benign neoplasm
|
|
integumentary system cancer
|
|
integumentary system disorder
|
|
intellectual developmental disorder 59
|
|
intellectual developmental disorder 60 with seizures
|
|
intellectual developmental disorder 61
|
|
intellectual developmental disorder 62
|
|
intellectual developmental disorder and retinitis pigmentosa; IDDRP
|
|
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
|
|
intellectual developmental disorder with autism and dysmorphic facies
|
|
intellectual developmental disorder with autism and macrocephaly
|
|
intellectual developmental disorder with autistic features and language delay, with or without seizures
|
|
intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
|
|
intellectual developmental disorder with cardiac defects and dysmorphic facies
|
|
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
|
|
intellectual developmental disorder with dysmorphic facies and ptosis
|
|
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
|
|
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
|
|
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
|
|
intellectual developmental disorder with hypertelorism and distinctive facies
|
|
intellectual developmental disorder with hypotonia and behavioral abnormalities
|
|
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
|
|
intellectual developmental disorder with impaired language and dysmorphic facies
|
|
intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
|
|
intellectual developmental disorder with macrocephaly, seizures, and speech delay
|
|
intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
|
|
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
|
|
intellectual developmental disorder with neuropsychiatric features
|
|
intellectual developmental disorder with ocular anomalies and distinctive facial features
|
|
intellectual developmental disorder with or without epilepsy or cerebellar ataxia
|
|
intellectual developmental disorder with or without peripheral neuropathy
|
|
intellectual developmental disorder with paroxysmal dyskinesia or seizures
|
|
intellectual developmental disorder with poor growth and with or without seizures or ataxia
|
|
intellectual developmental disorder with seizures and language delay
|
|
intellectual developmental disorder with severe speech and ambulation defects
|
|
intellectual developmental disorder with short stature and behavioral abnormalities
|
|
intellectual developmental disorder with short stature and variable skeletal anomalies
|
|
intellectual developmental disorder with speech delay and axonal peripheral neuropathy
|
|
intellectual developmental disorder with speech delay, autism, and dysmorphic facies
|
|
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
|
|
intellectual developmental disorder, X-linked 108
|
|
intellectual developmental disorder, X-linked 110
|
|
intellectual developmental disorder, X-linked 111
|
|
intellectual developmental disorder, X-linked 112
|
|
intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
|
|
intellectual developmental disorder, X-linked, syndromic, Pilorge type
|
|
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
|
|
intellectual developmental disorder, autosomal dominant 63, with macrocephaly
|
|
intellectual developmental disorder, autosomal dominant 64
|
|
intellectual developmental disorder, autosomal dominant 65
|
|
intellectual developmental disorder, autosomal dominant 66
|
|
intellectual developmental disorder, autosomal dominant 67
|
|
intellectual developmental disorder, autosomal dominant 68
|
|
intellectual developmental disorder, autosomal dominant 70
|
|
intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
|
|
intellectual developmental disorder, autosomal dominant 72
|
|
intellectual developmental disorder, autosomal dominant 74
|
|
intellectual developmental disorder, autosomal recessive 67
|
|
intellectual developmental disorder, autosomal recessive 68
|
|
intellectual developmental disorder, autosomal recessive 69
|
|
intellectual developmental disorder, autosomal recessive 70
|
|
intellectual developmental disorder, autosomal recessive 71
|
|
intellectual developmental disorder, autosomal recessive 72
|
|
intellectual developmental disorder, autosomal recessive 73
|
|
intellectual developmental disorder, autosomal recessive 74
|
|
intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
|
|
intellectual developmental disorder, autosomal recessive 76
|
|
intellectual developmental disorder, autosomal recessive 77
|
|
intellectual developmental disorder, autosomal recessive 78
|
|
intellectual developmental disorder, autosomal recessive 79
|
|
intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
|
|
intellectual developmental disorder, autosomal recessive 81
|
|
intellectual developmental disorder, x-linked 113
|
|
intellectual disability
|
|
intellectual disability and myopathy syndrome
|
|
intellectual disability syndrome due to a DYRK1A point mutation
|
|
intellectual disability, FRA12A type
|
|
intellectual disability, Wolff type
|
|
intellectual disability, X-linked 1
|
|
intellectual disability, X-linked 100
|
|
intellectual disability, X-linked 101
|
|
intellectual disability, X-linked 102
|
|
intellectual disability, X-linked 103
|
|
intellectual disability, X-linked 104
|
|
intellectual disability, X-linked 105
|
|
intellectual disability, X-linked 106
|
|
intellectual disability, X-linked 107
|
|
intellectual disability, X-linked 19
|
|
intellectual disability, X-linked 21
|
|
intellectual disability, X-linked 30
|
|
intellectual disability, X-linked 41
|
|
intellectual disability, X-linked 45
|
|
intellectual disability, X-linked 46
|
|
intellectual disability, X-linked 49
|
|
intellectual disability, X-linked 50
|
|
intellectual disability, X-linked 58
|
|
intellectual disability, X-linked 61
|
|
intellectual disability, X-linked 63
|
|
intellectual disability, X-linked 72
|
|
intellectual disability, X-linked 88
|
|
intellectual disability, X-linked 9
|
|
intellectual disability, X-linked 90
|
|
intellectual disability, X-linked 91
|
|
intellectual disability, X-linked 93
|
|
intellectual disability, X-linked 96
|
|
intellectual disability, X-linked 97
|
|
intellectual disability, X-linked 99
|
|
intellectual disability, X-linked 99, syndromic, female-restricted
|
|
intellectual disability, X-linked syndromic, Turner type
|
|
intellectual disability, X-linked, syndromic 33
|
|
intellectual disability, X-linked, syndromic, 35
|
|
intellectual disability, X-linked, syndromic, Bain type
|
|
intellectual disability, X-linked, syndromic, Houge type
|
|
intellectual disability, X-linked, with or without seizures, arx-related
|
|
intellectual disability, X-linked, with panhypopituitarism
|
|
intellectual disability, anterior maxillary protrusion, and strabismus
|
|
intellectual disability, autosomal dominant
|
|
intellectual disability, autosomal dominant 1
|
|
intellectual disability, autosomal dominant 10
|
|
intellectual disability, autosomal dominant 11
|
|
intellectual disability, autosomal dominant 13
|
|
intellectual disability, autosomal dominant 14
|
|
intellectual disability, autosomal dominant 15
|
|
intellectual disability, autosomal dominant 16
|
|
intellectual disability, autosomal dominant 2
|
|
intellectual disability, autosomal dominant 20
|
|
intellectual disability, autosomal dominant 22
|
|
intellectual disability, autosomal dominant 24
|
|
intellectual disability, autosomal dominant 27
|
|
intellectual disability, autosomal dominant 29
|
|
intellectual disability, autosomal dominant 3
|
|
intellectual disability, autosomal dominant 30
|
|
intellectual disability, autosomal dominant 33
|
|
intellectual disability, autosomal dominant 34
|
|
intellectual disability, autosomal dominant 38
|
|
intellectual disability, autosomal dominant 39
|
|
intellectual disability, autosomal dominant 4
|
|
intellectual disability, autosomal dominant 40
|
|
intellectual disability, autosomal dominant 41
|
|
intellectual disability, autosomal dominant 42
|
|
intellectual disability, autosomal dominant 43
|
|
intellectual disability, autosomal dominant 45
|
|
intellectual disability, autosomal dominant 46
|
|
intellectual disability, autosomal dominant 47
|
|
intellectual disability, autosomal dominant 48
|
|
intellectual disability, autosomal dominant 5
|
|
intellectual disability, autosomal dominant 50
|
|
intellectual disability, autosomal dominant 51
|
|
intellectual disability, autosomal dominant 52
|
|
intellectual disability, autosomal dominant 53
|
|
intellectual disability, autosomal dominant 54
|
|
intellectual disability, autosomal dominant 55, with seizures
|
|
intellectual disability, autosomal dominant 56
|
|
intellectual disability, autosomal dominant 57
|
|
intellectual disability, autosomal dominant 58
|
|
intellectual disability, autosomal dominant 6
|
|
intellectual disability, autosomal dominant 8
|
|
intellectual disability, autosomal dominant 9
|
|
intellectual disability, autosomal recessive 1
|
|
intellectual disability, autosomal recessive 12
|
|
intellectual disability, autosomal recessive 13
|
|
intellectual disability, autosomal recessive 14
|
|
intellectual disability, autosomal recessive 18
|
|
intellectual disability, autosomal recessive 2
|
|
intellectual disability, autosomal recessive 24
|
|
intellectual disability, autosomal recessive 27
|
|
intellectual disability, autosomal recessive 3
|
|
intellectual disability, autosomal recessive 34
|
|
intellectual disability, autosomal recessive 42
|
|
intellectual disability, autosomal recessive 43
|
|
intellectual disability, autosomal recessive 44
|
|
intellectual disability, autosomal recessive 45
|
|
intellectual disability, autosomal recessive 46
|
|
intellectual disability, autosomal recessive 47
|
|
intellectual disability, autosomal recessive 5
|
|
intellectual disability, autosomal recessive 50
|
|
intellectual disability, autosomal recessive 51
|
|
intellectual disability, autosomal recessive 52
|
|
intellectual disability, autosomal recessive 53
|
|
intellectual disability, autosomal recessive 54
|
|
intellectual disability, autosomal recessive 56
|
|
intellectual disability, autosomal recessive 57
|
|
intellectual disability, autosomal recessive 58
|
|
intellectual disability, autosomal recessive 59
|
|
intellectual disability, autosomal recessive 6
|
|
intellectual disability, autosomal recessive 60
|
|
intellectual disability, autosomal recessive 61
|
|
intellectual disability, autosomal recessive 63
|
|
intellectual disability, autosomal recessive 64
|
|
intellectual disability, autosomal recessive 65
|
|
intellectual disability, autosomal recessive 66
|
|
intellectual disability, autosomal recessive 7
|
|
intellectual disability, short stature, facial anomalies, and joint dislocations
|
|
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
|
|
intellectual disability-epilepsy-extrapyramidal syndrome
|
|
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
|
|
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
|
|
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
|
|
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
|
|
intellectual disability-hypotonic facies syndrome, X-linked, 1
|
|
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
|
|
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
|
|
intellectual disability-severe speech delay-mild dysmorphism syndrome
|
|
intellectual disability-sparse hair-brachydactyly syndrome
|
|
intellectual disability-strabismus syndrome
|
|
intermediate Charcot-Marie-Tooth disease
|
|
intermediate nemaline myopathy
|
|
intermediate severe Salla disease
|
|
interstitial lung disease
|
|
interstitial lung disease 1
|
|
interstitial lung disease 2
|
|
interstitial lung disease due to ABCA3 deficiency
|
|
interstitial lung disease specific to childhood
|
|
interstitial nephritis
|
|
intervertebral disk degenerative disorder
|
|
intestinal atresia
|
|
intestinal cancer
|
|
intestinal disaccharidase deficiency
|
|
intestinal disorder
|
|
intestinal dysmotility syndrome
|
|
intestinal hypomagnesemia 1
|
|
intestinal motility disease
|
|
intestinal neoplasm
|
|
intestinal neuroendocrine neoplasm
|
|
intestinal neuroendocrine tumor G1
|
|
intestinal obstruction
|
|
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
|
|
intestinal polyp
|
|
intestinal polyposis syndrome
|
|
intestinal pseudo-obstruction
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
|
|
intra-abdominal hemangioma
|
|
intracranial arterial disease
|
|
intracranial berry aneurysm
|
|
intracranial hemangioma
|
|
intracranial hypertension
|
|
intraductal breast neoplasm
|
|
intrahepatic bile duct cancer
|
|
intrahepatic cholangiocarcinoma
|
|
intrahepatic cholestasis
|
|
intrahepatic cholestasis of pregnancy
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
|
|
intrinsic cardiomyopathy
|
|
invasive breast carcinoma
|
|
invasive carcinoma
|
|
invasive ductal breast carcinoma
|
|
invasive lobular breast carcinoma
|
|
iridogoniodysgenesis
|
|
iris cancer
|
|
iris disorder
|
|
iris neoplasm
|
|
iron deficiency anemia
|
|
iron metabolism disease
|
|
iron overload, susceptibility to
|
|
iron poisoning
|
|
ischemic disease
|
|
islet cell adenomatosis
|
|
isobutyryl-CoA dehydrogenase deficiency
|
|
isolated Pierre-Robin syndrome
|
|
isolated agammaglobulinemia
|
|
isolated agenesis of gallbladder
|
|
isolated anhidrosis with normal sweat glands
|
|
isolated aniridia
|
|
isolated anophthalmia-microphthalmia syndrome
|
|
isolated cerebellar hypoplasia/agenesis
|
|
isolated cleft lip
|
|
isolated cleft palate
|
|
isolated congenital adermatoglyphia
|
|
isolated congenital anonychia
|
|
isolated congenital breast hypoplasia/aplasia
|
|
isolated congenital digital clubbing
|
|
isolated congenital growth hormone deficiency
|
|
isolated congenital hypogonadotropic hypogonadism
|
|
isolated congenital megalocornea
|
|
isolated congenital microcephaly
|
|
isolated craniosynostosis
|
|
isolated cryptophthalmia
|
|
isolated dystonia
|
|
isolated ectopia lentis
|
|
isolated encephalocele
|
|
isolated familial wooly hair disorder
|
|
isolated focal cortical dysplasia
|
|
isolated focal cortical dysplasia type II
|
|
isolated focal non-epidermolytic palmoplantar keratoderma
|
|
isolated glycerol kinase deficiency
|
|
isolated growth hormone deficiency type IA
|
|
isolated growth hormone deficiency type IB
|
|
isolated growth hormone deficiency type II
|
|
isolated growth hormone deficiency type III
|
|
isolated growth hormone deficiency, type 4
|
|
isolated growth hormone deficiency, type 5
|
|
isolated hemihyperplasia
|
|
isolated hyperchlorhidrosis
|
|
isolated hyperferritinemia
|
|
isolated macular dystrophy
|
|
isolated microphthalmia
|
|
isolated microphthalmia 2
|
|
isolated microphthalmia 3
|
|
isolated microphthalmia 4
|
|
isolated microphthalmia 5
|
|
isolated microphthalmia 6
|
|
isolated microphthalmia 7
|
|
isolated microphthalmia 8
|
|
isolated neonatal sclerosing cholangitis
|
|
isolated optic nerve hypoplasia
|
|
isolated oxycephaly
|
|
isolated sedoheptulokinase deficiency
|
|
isolated spina bifida
|
|
isolated sulfite oxidase deficiency
|
|
isolated thyroid-stimulating hormone deficiency
|
|
isolated thyrotropin-releasing hormone deficiency
|
|
isolated tracheo-esophageal fistula
|
|
isolated trigonocephaly
|
|
isovaleric acidemia
|
|
jaw-winking syndrome
|
|
joint contractures, osteochondromas, and B-cell lymphoma
|
|
joint laxity, short stature, and myopia
|
|
junctional epidermolysis bullosa
|
|
junctional epidermolysis bullosa Herlitz type
|
|
junctional epidermolysis bullosa inversa
|
|
junctional epidermolysis bullosa with pyloric atresia
|
|
junctional epidermolysis bullosa, non-Herlitz type
|
|
juvenile Huntington disease
|
|
juvenile Paget disease
|
|
juvenile absence epilepsy
|
|
juvenile amyotrophic lateral sclerosis
|
|
juvenile arthritis due to defect in LACC1
|
|
juvenile cataract-microcornea-renal glucosuria syndrome
|
|
juvenile hyaline fibromatosis
|
|
juvenile idiopathic arthritis
|
|
juvenile myelomonocytic leukemia
|
|
juvenile myoclonic epilepsy
|
|
juvenile nasopharyngeal angiofibroma
|
|
juvenile nephropathic cystinosis
|
|
juvenile neuronal ceroid lipofuscinosis
|
|
juvenile onset Parkinson disease 19A
|
|
juvenile open angle glaucoma
|
|
juvenile polyposis syndrome
|
|
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
|
|
juvenile primary lateral sclerosis
|
|
juvenile-onset Parkinson disease
|
|
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
|
|
kallikrein, decreased urinary activity of
|
|
kaposiform hemangioendothelioma
|
|
karyomegalic interstitial nephritis
|
|
keloid formation
|
|
keratinization disease
|
|
keratinopathic ichthyosis
|
|
keratitis
|
|
keratitis fugax hereditaria
|
|
keratoacanthoma
|
|
keratoconus
|
|
keratoconus 1
|
|
keratoconus 9
|
|
keratoderma hereditarium mutilans
|
|
keratoderma-ichthyosis-deafness syndrome, autosomal recessive
|
|
keratolytic winter erythema
|
|
keratosis
|
|
keratosis follicularis spinulosa decalvans
|
|
keratosis follicularis spinulosa decalvans, X-linked
|
|
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
|
|
keratosis palmoplantaris striata 2
|
|
keratosis palmoplantaris striata 3
|
|
keratosis pilaris
|
|
keratosis pilaris atrophicans
|
|
ketoacidosis due to monocarboxylate transporter-1 deficiency
|
|
kidney Wilms tumor
|
|
kidney angiomyolipoma
|
|
kidney benign neoplasm
|
|
kidney cancer
|
|
kidney disorder
|
|
kidney failure
|
|
kidney medullary carcinoma
|
|
kidney neoplasm
|
|
kuru
|
|
kuru, susceptibility to
|
|
lacrimoauriculodentodigital syndrome 2
|
|
lacrimoauriculodentodigital syndrome 3
|
|
lactic acidosis
|
|
lactic aciduria due to D-lactic acid
|
|
lactose intolerance
|
|
lactose intolerance adult type
|
|
lamellar ichthyosis
|
|
laminopathy
|
|
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
|
|
language disorder
|
|
large cell carcinoma
|
|
large congenital melanocytic nevus
|
|
large intestine disorder
|
|
laryngeal carcinoma
|
|
laryngeal disorder
|
|
laryngeal neoplasm
|
|
laryngeal squamous cell carcinoma
|
|
laryngo-onycho-cutaneous syndrome
|
|
larynx cancer
|
|
late infantile neuronal ceroid lipofuscinosis
|
|
late-onset Parkinson disease
|
|
late-onset junctional epidermolysis bullosa
|
|
late-onset retinal degeneration
|
|
lateral meningocele syndrome
|
|
lateral sclerosis
|
|
lathosterolosis
|
|
lattice corneal dystrophy
|
|
lattice corneal dystrophy type I
|
|
laurin-Sandrow syndrome
|
|
learning disability
|
|
leber congenital amaurosis 19
|
|
left ventricular noncompaction
|
|
left ventricular noncompaction 1
|
|
left ventricular noncompaction 10
|
|
left ventricular noncompaction 2
|
|
left ventricular noncompaction 4
|
|
left ventricular noncompaction 5
|
|
left ventricular noncompaction 7
|
|
left ventricular noncompaction 8
|
|
left ventricular noncompaction 9
|
|
legionnaire disease, susceptibility to
|
|
leiomyoma
|
|
leiomyoma cutis
|
|
leiomyosarcoma
|
|
lens disorder
|
|
lens subluxation
|
|
leprosy
|
|
leprosy, susceptibility to, 1
|
|
leprosy, susceptibility to, 2
|
|
leprosy, susceptibility to, 3
|
|
leprosy, susceptibility to, 5
|
|
lessel-kubisch syndrome
|
|
lethal acantholytic epidermolysis bullosa
|
|
lethal arthrogryposis-anterior horn cell disease syndrome
|
|
lethal congenital contracture syndrome
|
|
lethal congenital contracture syndrome 1
|
|
lethal congenital contracture syndrome 11
|
|
lethal congenital contracture syndrome 2
|
|
lethal congenital contracture syndrome 3
|
|
lethal congenital contracture syndrome 4
|
|
lethal congenital contracture syndrome 6
|
|
lethal congenital contracture syndrome 7
|
|
lethal congenital contracture syndrome 8
|
|
lethal congenital contracture syndrome 9
|
|
lethal congenital glycogen storage disease of heart
|
|
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
|
|
lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
|
|
lethal multiple pterygium syndrome
|
|
lethal occipital encephalocele-skeletal dysplasia syndrome
|
|
lethal osteosclerotic bone dysplasia
|
|
lethal polymalformative syndrome, Boissel type
|
|
lethal short-limb skeletal dysplasia, Al Gazali type
|
|
leukemia
|
|
leukemia, acute lymphoblastic, susceptibility to, 3
|
|
leukemia, acute lymphocytic, susceptibility to, 1
|
|
leukemia, acute lymphocytic, susceptibility to, 2
|
|
leukemia, acute myeloid, susceptibility to
|
|
leukemia, acute, X-linked
|
|
leukemoid reaction
|
|
leukocyte adhesion deficiency
|
|
leukocyte adhesion deficiency 1
|
|
leukocyte adhesion deficiency 3
|
|
leukocyte adhesion deficiency type II
|
|
leukocyte disorder
|
|
leukodystrophy
|
|
leukodystrophy and acquired microcephaly with or without dystonia;
|
|
leukodystrophy, childhood-onset, remitting
|
|
leukodystrophy, hypomyelinating, 14
|
|
leukodystrophy, hypomyelinating, 15
|
|
leukodystrophy, hypomyelinating, 16
|
|
leukodystrophy, hypomyelinating, 17
|
|
leukodystrophy, hypomyelinating, 18
|
|
leukodystrophy, hypomyelinating, 19, transient infantile
|
|
leukodystrophy, hypomyelinating, 20
|
|
leukodystrophy, hypomyelinating, 21
|
|
leukodystrophy, hypomyelinating, 22
|
|
leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
|
|
leukodystrophy, hypomyelinating, 24
|
|
leukodystrophy, hypomyelinating, 25
|
|
leukodystrophy, hypomyelinating, 26, with chondrodysplasia
|
|
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
|
|
leukoencephalopathy with calcifications and cysts
|
|
leukoencephalopathy with mild cerebellar ataxia and white matter edema
|
|
leukoencephalopathy with vanishing white matter
|
|
leukoencephalopathy with vanishing white matter 1
|
|
leukoencephalopathy with vanishing white matter 2
|
|
leukoencephalopathy with vanishing white matter 3
|
|
leukoencephalopathy with vanishing white matter 4
|
|
leukoencephalopathy with vanishing white matter 5
|
|
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
|
|
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
|
|
leukoencephalopathy, diffuse hereditary, with spheroids 1
|
|
leukoencephalopathy, hereditary diffuse, with spheroids
|
|
leukoencephalopathy, hereditary diffuse, with spheroids 2
|
|
leukoencephalopathy, megalencephalic
|
|
leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
|
|
leukoencephalopathy, porphyria-related
|
|
leukoencephalopathy, progressive, infantile-onset, with or without deafness
|
|
leukoencephalopathy, progressive, with ovarian failure
|
|
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
|
|
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
|
leukopenia
|
|
lichen planopilaris
|
|
limb-girdle muscular dystrophy
|
|
limb-girdle muscular dystrophy due to POMK deficiency
|
|
limb-mammary syndrome
|
|
linear nevus sebaceous syndrome
|
|
linear porokeratosis
|
|
linear skin defects with multiple congenital anomalies
|
|
linear skin defects with multiple congenital anomalies 1
|
|
linear skin defects with multiple congenital anomalies 2
|
|
linear skin defects with multiple congenital anomalies 3
|
|
lingual-facial-buccal dyskinesia
|
|
lip and oral cavity carcinoma
|
|
lipase deficiency, combined
|
|
lipodystrophy
|
|
lipodystrophy, congenital generalized, type 5
|
|
lipodystrophy, familial partial, type 8
|
|
lipodystrophy, familial partial, type 9
|
|
lipodystrophy, partial, acquired, susceptibility to
|
|
lipoic acid synthetase deficiency
|
|
lipoid nephrosis
|
|
lipoid proteinosis
|
|
lipoma
|
|
lipomatosis
|
|
lipoprotein glomerulopathy
|
|
lipoyl transferase 1 deficiency
|
|
lissencephaly 10
|
|
lissencephaly 4
|
|
lissencephaly 6 with microcephaly
|
|
lissencephaly 7 with cerebellar hypoplasia
|
|
lissencephaly 8
|
|
lissencephaly 9 with complex brainstem malformation
|
|
lissencephaly due to LIS1 mutation
|
|
lissencephaly due to TUBA1A mutation
|
|
lissencephaly spectrum disorder with complex brainstem malformation
|
|
lissencephaly spectrum disorders
|
|
lissencephaly type 1 due to doublecortin gene mutation
|
|
lissencephaly type 3
|
|
liver and intrahepatic bile duct neoplasm
|
|
liver cancer
|
|
liver disease, severe congenital
|
|
liver disorder
|
|
liver failure
|
|
liver hemangioma
|
|
lobar holoprosencephaly
|
|
localized junctional epidermolysis bullosa, non-Herlitz type
|
|
long COVID-19
|
|
long QT syndrome
|
|
long QT syndrome 1
|
|
long QT syndrome 10
|
|
long QT syndrome 11
|
|
long QT syndrome 12
|
|
long QT syndrome 13
|
|
long QT syndrome 14
|
|
long QT syndrome 15
|
|
long QT syndrome 16
|
|
long QT syndrome 2
|
|
long QT syndrome 3
|
|
long QT syndrome 4
|
|
long QT syndrome 5
|
|
long QT syndrome 6
|
|
long QT syndrome 9
|
|
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
|
long chain acyl-CoA dehydrogenase deficiency
|
|
long qt syndrome 8
|
|
loose anagen syndrome
|
|
loricrin keratoderma
|
|
low grade astrocytic tumor
|
|
low grade ependymoma
|
|
low grade glioma
|
|
low phospholipid associated cholelithiasis
|
|
low-grade astrocytoma
|
|
lower motor neuron syndrome with late-adult onset
|
|
lower respiratory tract disorder
|
|
lower urinary tract obstruction, congenital
|
|
lumbar disk degeneration, susceptibility to
|
|
lumbar disk degenerative disorder
|
|
lumbar disk herniation, susceptibility to
|
|
lung PEComa
|
|
lung adenocarcinoma
|
|
lung cancer
|
|
lung carcinoid tumor
|
|
lung carcinoma
|
|
lung disease, immunodeficiency, and chromosome breakage syndrome;
|
|
lung disorder
|
|
lung large cell carcinoma
|
|
lung lymphangioleiomyomatosis
|
|
lung neoplasm
|
|
lung neuroendocrine neoplasm
|
|
lung sarcomatoid carcinoma
|
|
lupus erythematosus
|
|
lymphangioleiomyomatosis
|
|
lymphangioma
|
|
lymphatic malformation
|
|
lymphatic malformation 1
|
|
lymphatic malformation 10
|
|
lymphatic malformation 11
|
|
lymphatic malformation 12
|
|
lymphatic malformation 13
|
|
lymphatic malformation 14
|
|
lymphatic malformation 3
|
|
lymphatic malformation 4
|
|
lymphatic malformation 6
|
|
lymphatic malformation 7
|
|
lymphatic malformation 8
|
|
lymphatic malformation 9
|
|
lymphatic system disorder
|
|
lymphatic vessel neoplasm
|
|
lymphedema
|
|
lymphedema-distichiasis syndrome
|
|
lymphedema-posterior choanal atresia syndrome
|
|
lymphoblastic leukemia, acute, with lymphomatous features
|
|
lymphoid hemopathy
|
|
lymphoid leukemia
|
|
lymphoid neoplasm
|
|
lymphoid system disorder
|
|
lymphoma
|
|
lymphoma, non-Hodgkin, familial
|
|
lymphopenia
|
|
lymphoplasmacytic lymphoma
|
|
lymphoproliferative syndrome
|
|
lymphoproliferative syndrome 1
|
|
lymphoproliferative syndrome 2
|
|
lysinuric protein intolerance
|
|
lysosomal acid lipase deficiency
|
|
lysosomal glycogen storage disease
|
|
lysosomal lipid storage disorder
|
|
lysosomal storage disease
|
|
lysosomal storage disease with skeletal involvement
|
|
macrocephaly, acquired, with impaired intellectual development
|
|
macrocephaly, dysmorphic facies, and psychomotor retardation
|
|
macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
|
|
macrocephaly-autism syndrome
|
|
macrocephaly-developmental delay syndrome
|
|
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
|
|
macrocephaly/megalencephaly syndrome, autosomal recessive
|
|
macrocytic anemia
|
|
macrodactyly of toes
|
|
macroglobulinemia, Waldenstrom, 1
|
|
macroglossia
|
|
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
|
|
macrothrombocytopenia, isolated
|
|
macrothrombocytopenia, isolated, 1, autosomal dominant
|
|
macrothrombocytopenia, isolated, 2, autosomal dominant
|
|
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
|
|
macular corneal dystrophy
|
|
macular degeneration
|
|
macular degeneration, X-linked atrophic
|
|
macular degeneration, age-related, 3
|
|
macular degeneration, early-onset
|
|
macular dystrophy with central cone involvement
|
|
macular dystrophy, retinal
|
|
macular dystrophy, retinal, 4
|
|
macular retinal edema
|
|
major affective disorder 7
|
|
major depressive disorder
|
|
mal de Meleda
|
|
malabsorption syndrome
|
|
malaria
|
|
malaria, mild, susceptibility to
|
|
malaria, susceptibility to
|
|
male breast carcinoma
|
|
male infertility
|
|
male infertility due to globozoospermia
|
|
male infertility with teratozoospermia due to single gene mutation
|
|
male reproductive organ cancer
|
|
male reproductive system disorder
|
|
male reproductive system neoplasm
|
|
maleylacetoacetate isomerase deficiency
|
|
malignant choroid melanoma
|
|
malignant colon neoplasm
|
|
malignant endocrine neoplasm
|
|
malignant epithelial tumor of ovary
|
|
malignant exocrine pancreas neoplasm
|
|
malignant germ cell tumor
|
|
malignant germ cell tumor of ovary
|
|
malignant glioma
|
|
malignant histiocytosis
|
|
malignant hyperthermia of anesthesia
|
|
malignant hyperthermia, susceptibility to
|
|
malignant hyperthermia, susceptibility to, 1
|
|
malignant hyperthermia, susceptibility to, 5
|
|
malignant mesothelioma
|
|
malignant migrating partial seizures of infancy
|
|
malignant mixed neoplasm
|
|
malignant non-epithelial tumor of ovary
|
|
malignant ovarian serous tumor
|
|
malignant pancreatic neoplasm
|
|
malignant peritoneal mesothelioma
|
|
malignant soft tissue neoplasm
|
|
malignant spindle cell neoplasm
|
|
malignant testicular germ cell tumor
|
|
malignant tumor of adrenal cortex
|
|
malignant tumor of extrahepatic bile duct
|
|
malignant tumor of floor of mouth
|
|
malignant tumor of nasopharynx
|
|
malignant tumor of neck
|
|
malignant tumor of parathyroid gland
|
|
malignant urinary system neoplasm
|
|
malonic aciduria
|
|
mandibular hypoplasia-deafness-progeroid syndrome
|
|
mandibuloacral dysplasia
|
|
mandibuloacral dysplasia progeroid syndrome
|
|
mandibuloacral dysplasia with type A lipodystrophy
|
|
mandibuloacral dysplasia with type B lipodystrophy
|
|
mandibulofacial dysostosis
|
|
mandibulofacial dysostosis with alopecia
|
|
mandibulofacial dysostosis with mental deficiency
|
|
mandibulofacial dysostosis-microcephaly syndrome
|
|
mannose-binding lectin deficiency
|
|
mantle cell lymphoma
|
|
maple syrup urine disease
|
|
maple syrup urine disease type 1A
|
|
maple syrup urine disease type 1B
|
|
maple syrup urine disease type 2
|
|
maple syrup urine disease, mild variant
|
|
marginal zone lymphoma
|
|
mast cell leukemia
|
|
mast cell neoplasm
|
|
mast syndrome
|
|
mastocytosis
|
|
maternal riboflavin deficiency
|
|
maternally-inherited diabetes and deafness
|
|
maternally-inherited spastic paraplegia
|
|
mature T-cell and NK-cell non-Hodgkin lymphoma
|
|
maturity-onset diabetes of the young
|
|
maturity-onset diabetes of the young type 1
|
|
maturity-onset diabetes of the young type 10
|
|
maturity-onset diabetes of the young type 11
|
|
maturity-onset diabetes of the young type 13
|
|
maturity-onset diabetes of the young type 14
|
|
maturity-onset diabetes of the young type 2
|
|
maturity-onset diabetes of the young type 3
|
|
maturity-onset diabetes of the young type 4
|
|
maturity-onset diabetes of the young type 6
|
|
maturity-onset diabetes of the young type 7
|
|
maturity-onset diabetes of the young type 8
|
|
maturity-onset diabetes of the young type 9
|
|
mechanical strabismus
|
|
meckel syndrome 14
|
|
meconium ileus
|
|
mediastinal germ cell tumor
|
|
medium chain acyl-CoA dehydrogenase deficiency
|
|
medullary breast carcinoma
|
|
medullary thyroid gland carcinoma
|
|
medulloblastoma
|
|
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
|
|
megabladder, congenital
|
|
megacolon
|
|
megaconial type congenital muscular dystrophy
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome 1
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome 2
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome 3
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome 4
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome 5
|
|
megalencephalic leukoencephalopathy with subcortical cysts
|
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
megalencephalic leukoencephalopathy with subcortical cysts 2A
|
|
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
|
|
megalencephalic leukoencephalopathy with subcortical cysts 3
|
|
megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
|
|
megalencephaly
|
|
megalencephaly, autosomal dominant
|
|
megalencephaly-capillary malformation-polymicrogyria syndrome
|
|
megalencephaly-polydactyly syndrome
|
|
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
|
|
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
|
|
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
|
|
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
|
|
megalencephaly-severe kyphoscoliosis-overgrowth syndrome
|
|
megaloblastic anemia
|
|
megaloblastic anemia, folate-responsive
|
|
megalocornea
|
|
megalodactyly
|
|
melanocytic neoplasm
|
|
melanocytic nevus
|
|
melanocytic skin neoplasm
|
|
melanoma
|
|
melanoma and neural system tumor syndrome
|
|
melanoma, cutaneous malignant, susceptibility to, 1
|
|
melanoma, cutaneous malignant, susceptibility to, 2
|
|
melanoma, cutaneous malignant, susceptibility to, 3
|
|
melanoma, cutaneous malignant, susceptibility to, 5
|
|
melanoma, cutaneous malignant, susceptibility to, 6
|
|
melanoma, cutaneous malignant, susceptibility to, 8
|
|
melanoma, cutaneous malignant, susceptibility to, 9
|
|
melanoma, uveal, susceptibility to, 1
|
|
melanoma, uveal, susceptibility to, 2
|
|
melanoma-pancreatic cancer syndrome
|
|
melorheostosis
|
|
melorheostosis with osteopoikilosis
|
|
membranoproliferative glomerulonephritis
|
|
meningioma
|
|
menstrual cycle-dependent periodic fever
|
|
mental disorder
|
|
mesenchymal cell neoplasm
|
|
mesenchymal tumor of small intestine
|
|
mesoaxial synostotic syndactyly with phalangeal reduction
|
|
mesomelic dysplasia
|
|
mesothelial neoplasm
|
|
mesothelioma
|
|
metabolic bone disorder
|
|
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
|
|
metabolic disease
|
|
metabolic disease involving other neurotransmitter deficiency
|
|
metabolic dysfunction-associated steatotic liver disease
|
|
metabolic epilepsy
|
|
metabolic myopathy
|
|
metabolic myopathy due to lactate transporter defect
|
|
metabolic syndrome X
|
|
metachondromatosis
|
|
metachromatic leukodystrophy
|
|
metachromatic leukodystrophy due to saposin B deficiency
|
|
metachromatic leukodystrophy, juvenile form
|
|
metachromatic leukodystrophy, late infantile form
|
|
metaphyseal anadysplasia
|
|
metaphyseal anadysplasia 2
|
|
metaphyseal chondrodysplasia
|
|
metaphyseal chondrodysplasia, Jansen type
|
|
metaphyseal chondrodysplasia, Spahr type
|
|
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
|
|
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
|
|
metaphyseal dysplasia without hypotrichosis
|
|
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
|
|
metatropic dysplasia
|
|
methemoglobinemia
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
|
methemoglobinemia type 4
|
|
methemoglobinemia, alpha type
|
|
methionine adenosyltransferase deficiency
|
|
methylcobalamin deficiency type cblE
|
|
methylcobalamin deficiency type cblG
|
|
methylmalonate semialdehyde dehydrogenase deficiency
|
|
methylmalonic acidemia
|
|
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
|
|
methylmalonic acidemia due to transcobalamin receptor defect
|
|
methylmalonic acidemia with homocystinuria, type cblJ
|
|
methylmalonic acidemia with homocystinuria, type cblX
|
|
methylmalonic aciduria and homocystinuria
|
|
methylmalonic aciduria and homocystinuria type cblC
|
|
methylmalonic aciduria and homocystinuria type cblD
|
|
methylmalonic aciduria and homocystinuria type cblF
|
|
methylmalonic aciduria and/or homocystinuria, cblD type
|
|
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
|
|
methylmalonic aciduria, cblA type
|
|
methylmalonic aciduria, cblB type
|
|
metopic ridging-ptosis-facial dysmorphism syndrome
|
|
mevalonate kinase deficiency
|
|
mevalonic aciduria
|
|
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
|
|
microcephalic osteodysplastic dysplasia, Saul-Wilson type
|
|
microcephalic osteodysplastic primordial dwarfism
|
|
microcephalic osteodysplastic primordial dwarfism type I
|
|
microcephalic osteodysplastic primordial dwarfism type II
|
|
microcephalic osteodysplastic primordial dwarfism types I and III
|
|
microcephalic primordial dwarfism due to RTTN deficiency
|
|
microcephalic primordial dwarfism due to ZNF335 deficiency
|
|
microcephalic primordial dwarfism, Alazami type
|
|
microcephaly
|
|
microcephaly 1, primary, autosomal recessive
|
|
microcephaly 11, primary, autosomal recessive
|
|
microcephaly 12, primary, autosomal recessive
|
|
microcephaly 13, primary, autosomal recessive
|
|
microcephaly 14, primary, autosomal recessive
|
|
microcephaly 15, primary, autosomal recessive
|
|
microcephaly 16, primary, autosomal recessive
|
|
microcephaly 17, primary, autosomal recessive
|
|
microcephaly 18, primary, autosomal dominant
|
|
microcephaly 19, primary, autosomal recessive
|
|
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
|
|
microcephaly 20, primary, autosomal recessive
|
|
microcephaly 21, primary, autosomal recessive
|
|
microcephaly 22, primary, autosomal recessive
|
|
microcephaly 23, primary, autosomal recessive
|
|
microcephaly 24, primary, autosomal recessive
|
|
microcephaly 25, primary, autosomal recessive
|
|
microcephaly 26, primary, autosomal dominant
|
|
microcephaly 27, primary, autosomal dominant
|
|
microcephaly 28, primary, autosomal recessive
|
|
microcephaly 29, primary, autosomal recessive
|
|
microcephaly 3, primary, autosomal recessive
|
|
microcephaly 30, primary, autosomal recessive
|
|
microcephaly 4, primary, autosomal recessive
|
|
microcephaly 5, primary, autosomal recessive
|
|
microcephaly 6 with or without short stature
|
|
microcephaly 6, primary, autosomal recessive
|
|
microcephaly 7, primary, autosomal recessive
|
|
microcephaly 8, primary, autosomal recessive
|
|
microcephaly 9, primary, autosomal recessive
|
|
microcephaly and chorioretinopathy
|
|
microcephaly and chorioretinopathy 1
|
|
microcephaly and chorioretinopathy 2
|
|
microcephaly and chorioretinopathy 3
|
|
microcephaly with intellectual disability
|
|
microcephaly with lissencephaly and/or hydranencephaly
|
|
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
|
|
microcephaly with or without short stature
|
|
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
|
|
microcephaly, developmental delay, and brittle hair syndrome
|
|
microcephaly, epilepsy, and diabetes syndrome
|
|
microcephaly, epilepsy, and diabetes syndrome 1
|
|
microcephaly, epilepsy, and diabetes syndrome 2
|
|
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
|
|
microcephaly, growth deficiency, seizures, and brain malformations
|
|
microcephaly, growth restriction and increased sister chromatid exchange
|
|
microcephaly, growth restriction, and increased sister chromatid exchange 2
|
|
microcephaly, seizures, and developmental delay
|
|
microcephaly, short stature, and impaired glucose metabolism
|
|
microcephaly, short stature, and impaired glucose metabolism 1
|
|
microcephaly, short stature, and impaired glucose metabolism 2
|
|
microcephaly, short stature, and limb abnormalities
|
|
microcephaly-capillary malformation syndrome
|
|
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
|
|
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
|
|
microcephaly-micromelia syndrome
|
|
microcephaly-thin corpus callosum-intellectual disability syndrome
|
|
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
|
|
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
|
|
microcornea-myopic chorioretinal atrophy
|
|
microcytic anemia
|
|
microcytic anemia with liver iron overload
|
|
microform holoprosencephaly
|
|
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
|
|
microlissencephaly
|
|
microphthalmia
|
|
microphthalmia with brain and digit anomalies
|
|
microphthalmia with limb anomalies
|
|
microphthalmia, Lenz type
|
|
microphthalmia, isolated, with coloboma
|
|
microphthalmia, isolated, with coloboma 10
|
|
microphthalmia, isolated, with coloboma 3
|
|
microphthalmia, isolated, with coloboma 5
|
|
microphthalmia, isolated, with coloboma 6
|
|
microphthalmia, isolated, with coloboma 7
|
|
microphthalmia, isolated, with coloboma 8
|
|
microphthalmia, isolated, with coloboma 9
|
|
microphthalmia, syndromic 1
|
|
microphthalmia, syndromic 11
|
|
microphthalmia, syndromic 12
|
|
microphthalmia, syndromic 2
|
|
microphthalmia/coloboma 11
|
|
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
|
|
microvascular complications of diabetes, susceptibility
|
|
microvascular complications of diabetes, susceptibility to, 1
|
|
microvascular complications of diabetes, susceptibility to, 2
|
|
microvascular complications of diabetes, susceptibility to, 3
|
|
microvascular complications of diabetes, susceptibility to, 4
|
|
microvascular complications of diabetes, susceptibility to, 5
|
|
microvascular complications of diabetes, susceptibility to, 6
|
|
microvascular complications of diabetes, susceptibility to, 7
|
|
microvillus inclusion disease
|
|
middle ear disorder
|
|
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
|
|
migraine disorder
|
|
migraine with aura
|
|
migraine with or without aura, susceptibility to
|
|
migraine with or without aura, susceptibility to, 1
|
|
migraine without aura
|
|
migraine without aura, susceptibility to, 4
|
|
migraine, familial hemiplegic, 1
|
|
migraine, familial hemiplegic, 2
|
|
migraine, familial hemiplegic, 3
|
|
migraine, with or without aura, susceptibility to, 13
|
|
mild Canavan disease
|
|
mild hemophilia A
|
|
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
|
|
mineral metabolism disease
|
|
mirror movements 1
|
|
mirror movements 1 and/or agenesis of the corpus callosum
|
|
mirror movements 2
|
|
mirror movements 3
|
|
mirror movements 4
|
|
mismatch repair cancer syndrome
|
|
mismatch repair cancer syndrome 1
|
|
mismatch repair cancer syndrome 2
|
|
mismatch repair cancer syndrome 3
|
|
mismatch repair cancer syndrome 4
|
|
mitochondrial DNA deletion syndrome with progressive myopathy
|
|
mitochondrial DNA depletion syndrome
|
|
mitochondrial DNA depletion syndrome 1
|
|
mitochondrial DNA depletion syndrome 11
|
|
mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
|
|
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
|
|
mitochondrial DNA depletion syndrome 13
|
|
mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
|
|
mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
|
|
mitochondrial DNA depletion syndrome 16 (hepatic type)
|
|
mitochondrial DNA depletion syndrome 17
|
|
mitochondrial DNA depletion syndrome 18
|
|
mitochondrial DNA depletion syndrome 19
|
|
mitochondrial DNA depletion syndrome 20 (mngie type)
|
|
mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
|
|
mitochondrial DNA depletion syndrome 4a
|
|
mitochondrial DNA depletion syndrome 4b
|
|
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
|
|
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
|
|
mitochondrial DNA depletion syndrome 8a
|
|
mitochondrial DNA depletion syndrome 9
|
|
mitochondrial DNA depletion syndrome, encephalomyopathic form
|
|
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
|
mitochondrial DNA depletion syndrome, hepatocerebral form
|
|
mitochondrial DNA depletion syndrome, myopathic form
|
|
mitochondrial complex 1 deficiency, mitochondrial type 1
|
|
mitochondrial complex 1 deficiency, nuclear type 10
|
|
mitochondrial complex 1 deficiency, nuclear type 11
|
|
mitochondrial complex 1 deficiency, nuclear type 12
|
|
mitochondrial complex 1 deficiency, nuclear type 13
|
|
mitochondrial complex 1 deficiency, nuclear type 14
|
|
mitochondrial complex 1 deficiency, nuclear type 15
|
|
mitochondrial complex 1 deficiency, nuclear type 16
|
|
mitochondrial complex 1 deficiency, nuclear type 17
|
|
mitochondrial complex 1 deficiency, nuclear type 18
|
|
mitochondrial complex 1 deficiency, nuclear type 19
|
|
mitochondrial complex 1 deficiency, nuclear type 2
|
|
mitochondrial complex 1 deficiency, nuclear type 21
|
|
mitochondrial complex 1 deficiency, nuclear type 22
|
|
mitochondrial complex 1 deficiency, nuclear type 23
|
|
mitochondrial complex 1 deficiency, nuclear type 24
|
|
mitochondrial complex 1 deficiency, nuclear type 25
|
|
mitochondrial complex 1 deficiency, nuclear type 26
|
|
mitochondrial complex 1 deficiency, nuclear type 27
|
|
mitochondrial complex 1 deficiency, nuclear type 28
|
|
mitochondrial complex 1 deficiency, nuclear type 29
|
|
mitochondrial complex 1 deficiency, nuclear type 3
|
|
mitochondrial complex 1 deficiency, nuclear type 30
|
|
mitochondrial complex 1 deficiency, nuclear type 31
|
|
mitochondrial complex 1 deficiency, nuclear type 32
|
|
mitochondrial complex 1 deficiency, nuclear type 33
|
|
mitochondrial complex 1 deficiency, nuclear type 34
|
|
mitochondrial complex 1 deficiency, nuclear type 35
|
|
mitochondrial complex 1 deficiency, nuclear type 36
|
|
mitochondrial complex 1 deficiency, nuclear type 37
|
|
mitochondrial complex 1 deficiency, nuclear type 4
|
|
mitochondrial complex 1 deficiency, nuclear type 5
|
|
mitochondrial complex 1 deficiency, nuclear type 6
|
|
mitochondrial complex 1 deficiency, nuclear type 7
|
|
mitochondrial complex 1 deficiency, nuclear type 8
|
|
mitochondrial complex 1 deficiency, nuclear type 9
|
|
mitochondrial complex 2 deficiency, nuclear type 2
|
|
mitochondrial complex 2 deficiency, nuclear type 3
|
|
mitochondrial complex 2 deficiency, nuclear type 4
|
|
mitochondrial complex 3 deficiency, nuclear type 10
|
|
mitochondrial complex 3 deficiency, nuclear type 11
|
|
mitochondrial complex 4 deficiency, nuclear type 10
|
|
mitochondrial complex 4 deficiency, nuclear type 11
|
|
mitochondrial complex 4 deficiency, nuclear type 12
|
|
mitochondrial complex 4 deficiency, nuclear type 14
|
|
mitochondrial complex 4 deficiency, nuclear type 15
|
|
mitochondrial complex 4 deficiency, nuclear type 16
|
|
mitochondrial complex 4 deficiency, nuclear type 17
|
|
mitochondrial complex 4 deficiency, nuclear type 18
|
|
mitochondrial complex 4 deficiency, nuclear type 19
|
|
mitochondrial complex 4 deficiency, nuclear type 20
|
|
mitochondrial complex 4 deficiency, nuclear type 21
|
|
mitochondrial complex 4 deficiency, nuclear type 3
|
|
mitochondrial complex 4 deficiency, nuclear type 4
|
|
mitochondrial complex 4 deficiency, nuclear type 7
|
|
mitochondrial complex 4 deficiency, nuclear type 8
|
|
mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
|
|
mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
|
|
mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
|
|
mitochondrial complex I deficiency
|
|
mitochondrial complex I deficiency, mitochondrial type
|
|
mitochondrial complex I deficiency, nuclear type
|
|
mitochondrial complex I deficiency, nuclear type 1
|
|
mitochondrial complex I deficiency, nuclear type 39
|
|
mitochondrial complex II deficiency, nuclear type
|
|
mitochondrial complex II deficiency, nuclear type 1
|
|
mitochondrial complex III deficiency
|
|
mitochondrial complex III deficiency nuclear type 1
|
|
mitochondrial complex III deficiency nuclear type 2
|
|
mitochondrial complex III deficiency nuclear type 3
|
|
mitochondrial complex III deficiency nuclear type 4
|
|
mitochondrial complex III deficiency nuclear type 5
|
|
mitochondrial complex III deficiency nuclear type 6
|
|
mitochondrial complex III deficiency nuclear type 7
|
|
mitochondrial complex III deficiency nuclear type 8
|
|
mitochondrial complex III deficiency nuclear type 9
|
|
mitochondrial complex III deficiency, nuclear type
|
|
mitochondrial complex IV deficiency, nuclear type 1
|
|
mitochondrial complex IV deficiency, nuclear type 22
|
|
mitochondrial complex IV deficiency, nuclear type 23
|
|
mitochondrial complex IV deficiency, nuclear-type
|
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
|
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
|
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
|
|
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
|
|
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
|
|
mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
|
|
mitochondrial complex deficiency
|
|
mitochondrial disease
|
|
mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
|
|
mitochondrial encephalomyopathy
|
|
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
|
|
mitochondrial membrane transport disorder
|
|
mitochondrial myopathy with reversible cytochrome C oxidase deficiency
|
|
mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
|
|
mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
|
|
mitochondrial myopathy-lactic acidosis-deafness syndrome
|
|
mitochondrial neurogastrointestinal encephalomyopathy
|
|
mitochondrial non-syndromic sensorineural hearing loss
|
|
mitochondrial oxidative phosphorylation disorder
|
|
mitochondrial proton-transporting ATP synthase complex deficiency
|
|
mitochondrial pyruvate carrier deficiency
|
|
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
|
|
mitochondrial substrate carrier disorder
|
|
mitochondrial trifunctional protein deficiency
|
|
mitochondrial trifunctional protein deficiency 2
|
|
mitral atresia disorder
|
|
mitral valve disorder
|
|
mitral valve prolapse
|
|
mitral valve prolapse, myxomatous 2
|
|
mitral valve prolapse, myxomatous 3
|
|
mitral valve stenosis
|
|
mixed dermis disorder
|
|
mixed glioma
|
|
mixed neoplasm
|
|
mixed neuronal-glial tumor
|
|
monilethrix
|
|
monocytic leukemia
|
|
monocytopenia with susceptibility to infections
|
|
monogenic diabetes
|
|
monogenic epilepsy
|
|
monomelic amyotrophy
|
|
monosomy 13q34
|
|
monosomy 21
|
|
monosomy 7 myelodysplasia and leukemia syndrome 1
|
|
monosomy 7 myelodysplasia and leukemia syndrome 2
|
|
mood disorder
|
|
morbid obesity
|
|
morning glory syndrome
|
|
mosaic trisomy 2
|
|
mosaic variegated aneuploidy syndrome
|
|
mosaic variegated aneuploidy syndrome 1
|
|
mosaic variegated aneuploidy syndrome 2
|
|
mosaic variegated aneuploidy syndrome 3
|
|
mosaic variegated aneuploidy syndrome 4
|
|
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
|
|
motor developmental delay due to 14q32.2 paternally expressed gene defect
|
|
motor neuron disorder
|
|
motor peripheral neuropathy
|
|
mouth disorder
|
|
mouth mucosa disorder
|
|
movement disorder
|
|
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
|
|
moyamoya disease 1
|
|
moyamoya disease 7
|
|
mucocutaneous ulceration, chronic
|
|
mucolipidosis
|
|
mucolipidosis type II
|
|
mucolipidosis type III, alpha/beta
|
|
mucolipidosis type IV
|
|
mucopolysaccharidosis
|
|
mucopolysaccharidosis or mucopolysaccharidosis-like disorder
|
|
mucopolysaccharidosis type 1
|
|
mucopolysaccharidosis type 2
|
|
mucopolysaccharidosis type 2, severe form
|
|
mucopolysaccharidosis type 3
|
|
mucopolysaccharidosis type 3A
|
|
mucopolysaccharidosis type 3B
|
|
mucopolysaccharidosis type 3C
|
|
mucopolysaccharidosis type 3D
|
|
mucopolysaccharidosis type 4
|
|
mucopolysaccharidosis type 4A
|
|
mucopolysaccharidosis type 4B
|
|
mucopolysaccharidosis type 6
|
|
mucopolysaccharidosis type 7
|
|
mucopolysaccharidosis type 9
|
|
mucopolysaccharidosis, type 10
|
|
mucopolysaccharidosis-plus syndrome
|
|
mucosulfatidosis
|
|
mulibrey nanism
|
|
mullerian aplasia
|
|
mullerian aplasia and hyperandrogenism
|
|
multicentric carpo-tarsal osteolysis with or without nephropathy
|
|
multicentric osteolysis, nodulosis, and arthropathy
|
|
multicentric osteolysis-nodulosis-arthropathy spectrum
|
|
multicystic dysplastic kidney
|
|
multifocal dystonia
|
|
multifocal pattern dystrophy simulating fundus flavimaculatus
|
|
multiminicore myopathy
|
|
multinodular goiter
|
|
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
|
|
multiple acyl-CoA dehydrogenase deficiency
|
|
multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
|
|
multiple benign circumferential skin creases on limbs
|
|
multiple benign circumferential skin creases on limbs 1
|
|
multiple carboxylase deficiency
|
|
multiple congenital anomalies due to 14q32.2 imprinting defect
|
|
multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
|
|
multiple congenital anomalies-hypotonia-seizures syndrome
|
|
multiple congenital anomalies-hypotonia-seizures syndrome 1
|
|
multiple congenital anomalies-hypotonia-seizures syndrome 2
|
|
multiple congenital anomalies-hypotonia-seizures syndrome 3
|
|
multiple congenital anomalies-neurodevelopmental syndrome, X-linked
|
|
multiple congenital anomalies/dysmorphic syndrome
|
|
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
|
|
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
|
|
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
|
|
multiple cutaneous and mucosal venous malformations
|
|
multiple endocrine neoplasia
|
|
multiple endocrine neoplasia type 1
|
|
multiple endocrine neoplasia type 2
|
|
multiple endocrine neoplasia type 2A
|
|
multiple endocrine neoplasia type 2B
|
|
multiple endocrine neoplasia type 4
|
|
multiple epiphyseal dysplasia
|
|
multiple epiphyseal dysplasia due to collagen 9 anomaly
|
|
multiple epiphyseal dysplasia type 1
|
|
multiple epiphyseal dysplasia type 4
|
|
multiple epiphyseal dysplasia type 5
|
|
multiple epiphyseal dysplasia, Al-Gazali type
|
|
multiple epiphyseal dysplasia, Beighton type
|
|
multiple fibroadenoma of the breast
|
|
multiple intestinal atresia
|
|
multiple mitochondrial dysfunctions syndrome 1
|
|
multiple mitochondrial dysfunctions syndrome 2
|
|
multiple mitochondrial dysfunctions syndrome 3
|
|
multiple mitochondrial dysfunctions syndrome 4
|
|
multiple mitochondrial dysfunctions syndrome 5
|
|
multiple mitochondrial dysfunctions syndrome 6
|
|
multiple mitochondrial dysfunctions syndrome 7
|
|
multiple polyglandular tumor
|
|
multiple pterygium syndrome
|
|
multiple sclerosis
|
|
multiple sclerosis, susceptibility to
|
|
multiple sclerosis, susceptibility to 1
|
|
multiple sclerosis, susceptibility to, 3
|
|
multiple sclerosis, susceptibility to, 5
|
|
multiple self-healing squamous epithelioma
|
|
multiple symmetric lipomatosis
|
|
multiple synostoses syndrome
|
|
multiple synostoses syndrome 1
|
|
multiple synostoses syndrome 2
|
|
multiple synostoses syndrome 3
|
|
multiple synostoses syndrome 4
|
|
multiple system atrophy
|
|
multiple system atrophy 1, susceptibility to
|
|
multiple system atrophy, cerebellar type
|
|
multisystem inflammatory syndrome in children and adults
|
|
multisystemic smooth muscle dysfunction syndrome
|
|
muscle cancer
|
|
muscle tissue disorder
|
|
muscle-eye-brain disease
|
|
muscle-eye-brain disease with bilateral multicystic leucodystrophy
|
|
muscular atrophy
|
|
muscular channelopathy
|
|
muscular dystrophy
|
|
muscular dystrophy, adult-onset, with leukoencephalopathy
|
|
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
|
|
muscular dystrophy, congenital, with or without seizures
|
|
muscular dystrophy, congenital, with rapid progression
|
|
muscular dystrophy, limb-girdle, autosomal dominant
|
|
muscular dystrophy, limb-girdle, autosomal dominant 4
|
|
muscular dystrophy, limb-girdle, autosomal recessive 23
|
|
muscular dystrophy, limb-girdle, autosomal recessive 26
|
|
muscular dystrophy, limb-girdle, autosomal recessive 27
|
|
muscular dystrophy, limb-girdle, autosomal recessive 28
|
|
muscular dystrophy, scapulohumeral
|
|
muscular dystrophy-dystroglycanopathy
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
|
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
|
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
|
|
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
|
|
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
|
|
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
|
|
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
|
|
muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
|
|
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
|
|
muscular dystrophy-dystroglycanopathy type B5
|
|
muscular dystrophy-dystroglycanopathy type B6
|
|
muscular dystrophy-dystroglycanopathy, type A
|
|
muscular dystrophy-dystroglycanopathy, type B
|
|
muscular dystrophy-dystroglycanopathy, type C
|
|
musculoskeletal system benign neoplasm
|
|
musculoskeletal system cancer
|
|
musculoskeletal system disorder
|
|
mutism
|
|
myasthenic syndrome, congenital, 1B, fast-channel
|
|
myasthenic syndrome, congenital, 22
|
|
myasthenic syndrome, congenital, 23, presynaptic
|
|
myasthenic syndrome, congenital, 24, presynaptic
|
|
myasthenic syndrome, congenital, 25, presynaptic
|
|
myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
|
|
mycobacterial infectious disease
|
|
mycobacterium tuberculosis, susceptibility
|
|
mycobacterium tuberculosis, susceptibility to
|
|
myelitis
|
|
myelodysplastic syndrome
|
|
myelodysplastic syndrome associated with isolated del(5q)
|
|
myelodysplastic syndrome with ring sideroblasts
|
|
myelodysplastic/myeloproliferative disease
|
|
myelodysplastic/myeloproliferative neoplasm
|
|
myelofibrosis with myeloid metaplasia
|
|
myeloid hemopathy
|
|
myeloid leukemia
|
|
myeloid neoplasm
|
|
myeloid neoplasm associated with FGFR1 rearrangement
|
|
myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
|
|
myeloperoxidase deficiency
|
|
myeloproliferative disorder, chronic, with eosinophilia
|
|
myeloproliferative neoplasm
|
|
myeloproliferative neoplasm, unclassifiable
|
|
myocardial disorder
|
|
myocardial infarction
|
|
myocardial infarction, susceptibility to
|
|
myocardial ischemia
|
|
myocarditis
|
|
myoclonic dystonia 11
|
|
myoclonic dystonia 26
|
|
myoclonic epilepsy of Lafora 1
|
|
myoclonic epilepsy of Lafora 2
|
|
myoclonic epilepsy, juvenile, susceptibility to, 1
|
|
myoclonic-astatic epilepsy
|
|
myoclonic-atonic epilepsy
|
|
myoclonus, familial
|
|
myoclonus, familial, 1
|
|
myoclonus, familial, 2
|
|
myoclonus, intractable, neonatal
|
|
myoclonus-dystonia syndrome
|
|
myoepithelial tumor
|
|
myofibrillar myopathy
|
|
myofibrillar myopathy 1
|
|
myofibrillar myopathy 10
|
|
myofibrillar myopathy 11
|
|
myofibrillar myopathy 2
|
|
myofibrillar myopathy 3
|
|
myofibrillar myopathy 4
|
|
myofibrillar myopathy 5
|
|
myofibrillar myopathy 6
|
|
myofibrillar myopathy 7
|
|
myofibrillar myopathy 8
|
|
myofibromatosis, infantile, 1
|
|
myofibromatosis, infantile, 2
|
|
myoglobinuria, acute recurrent, autosomal recessive
|
|
myoglobinuria, recurrent
|
|
myomatous neoplasm
|
|
myopathy
|
|
myopathy caused by variation in CRPPA
|
|
myopathy caused by variation in FKRP
|
|
myopathy caused by variation in FKTN
|
|
myopathy caused by variation in GMPPB
|
|
myopathy caused by variation in POMGNT1
|
|
myopathy caused by variation in POMGNT2
|
|
myopathy caused by variation in POMT1
|
|
myopathy caused by variation in POMT2
|
|
myopathy due to calsequestrin and SERCA1 protein overload
|
|
myopathy due to myoadenylate deaminase deficiency
|
|
myopathy of extraocular muscle
|
|
myopathy with abnormal lipid metabolism
|
|
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
|
|
myopathy, centronuclear, 2
|
|
myopathy, centronuclear, 5
|
|
myopathy, centronuclear, 6, with fiber-type disproportion
|
|
myopathy, congenital proximal, with minicore lesions
|
|
myopathy, congenital, progressive, with scoliosis
|
|
myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
|
|
myopathy, congenital, with excess of muscle spindles
|
|
myopathy, congenital, with respiratory insufficiency and bone fractures
|
|
myopathy, congenital, with structured cores and z-line abnormalities
|
|
myopathy, congenital, with tremor
|
|
myopathy, distal, 5
|
|
myopathy, distal, 6, adult-onset, autosomal dominant
|
|
myopathy, distal, 7, adult-onset, X-linked
|
|
myopathy, distal, with rimmed vacuoles
|
|
myopathy, epilepsy, and progressive cerebral atrophy
|
|
myopathy, lactic acidosis, and sideroblastic anemia
|
|
myopathy, lactic acidosis, and sideroblastic anemia 1
|
|
myopathy, lactic acidosis, and sideroblastic anemia 2
|
|
myopathy, lactic acidosis, and sideroblastic anemia 3
|
|
myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
|
|
myopathy, myofibrillar, 9, with early respiratory failure
|
|
myopathy, myosin storage, autosomal recessive
|
|
myopathy, proximal, and ophthalmoplegia
|
|
myopathy, reducing body, X-linked, childhood-onset
|
|
myopathy, reducing body, X-linked, early-onset, severe
|
|
myopathy, sarcoplasmic body
|
|
myopathy, tubular aggregate, 1
|
|
myopathy, tubular aggregate, 2
|
|
myopia
|
|
myopia 2, autosomal dominant
|
|
myopia 21, autosomal dominant
|
|
myopia 22, autosomal dominant
|
|
myopia 23, autosomal recessive
|
|
myopia 24, autosomal dominant
|
|
myopia 25, autosomal dominant
|
|
myopia 26, X-linked, female-limited
|
|
myopia 27
|
|
myopia 28, autosomal recessive
|
|
myopia 6
|
|
myopia, high, with cataract and vitreoretinal degeneration
|
|
myosclerosis
|
|
myositis disease
|
|
myostatin-related muscle hypertrophy
|
|
myotonia congenita, autosomal dominant
|
|
myotonia congenita, autosomal recessive
|
|
myotonia fluctuans
|
|
myotonia permanens
|
|
myotonic dystrophy
|
|
myotonic dystrophy type 1
|
|
myotonic dystrophy type 2
|
|
myotonic syndrome
|
|
myxopapillary ependymoma
|
|
nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
|
|
nail disorder
|
|
nail-patella syndrome
|
|
nail-patella-like renal disease
|
|
nanophthalmia
|
|
nanophthalmos 1
|
|
nanophthalmos 2
|
|
nanophthalmos 4
|
|
narcolepsy
|
|
narcolepsy 1
|
|
narcolepsy 7
|
|
narcolepsy-cataplexy syndrome
|
|
nasal disorder
|
|
nasopalpebral lipoma-coloboma syndrome
|
|
nasopharyngeal carcinoma
|
|
nasopharyngeal carcinoma, susceptibility to, 1
|
|
nasopharyngeal carcinoma, susceptibility to, 3
|
|
nasopharyngeal disorder
|
|
nasopharyngeal neoplasm
|
|
nebulin-related early-onset distal myopathy
|
|
nemaline myopathy
|
|
nemaline myopathy 10
|
|
nemaline myopathy 2
|
|
nemaline myopathy 3
|
|
nemaline myopathy 5
|
|
nemaline myopathy 5B, autosomal recessive, childhood-onset
|
|
nemaline myopathy 5C, autosomal dominant
|
|
nemaline myopathy 6
|
|
nemaline myopathy 7
|
|
nemaline myopathy 8
|
|
nemaline myopathy 9
|
|
neonatal Marfan syndrome
|
|
neonatal diabetes mellitus
|
|
neonatal diabetes mellitus with congenital hypothyroidism
|
|
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
|
|
neonatal epilepsy syndrome
|
|
neonatal hemochromatosis
|
|
neonatal ichthyosis-sclerosing cholangitis syndrome
|
|
neonatal inflammatory skin and bowel disease
|
|
neonatal intrahepatic cholestasis due to citrin deficiency
|
|
neonatal osteosclerotic dysplasia
|
|
neonatal period electroclinical syndrome
|
|
neonatal severe primary hyperparathyroidism
|
|
neonatal-onset developmental and epileptic encephalopathy
|
|
neonatal-onset encephalopathy with rigidity and seizures
|
|
neonatal/infantile epilepsy syndrome
|
|
neoplasm
|
|
neoplasm of cerebral hemisphere
|
|
neoplasm of esophagus
|
|
neoplasm of floor of mouth
|
|
neoplasm of immature B and T cells
|
|
neoplasm of mature B-cells
|
|
neoplasm of mature T-cells or NK-cells
|
|
neoplasm of mediastinum
|
|
neoplasm of neck
|
|
neoplasm of testis
|
|
neoplasm of thorax
|
|
neoplasm with perivascular epithelioid cell differentiation
|
|
neoplastic disease or syndrome
|
|
neoplastic polyp
|
|
neoplastic syndrome
|
|
nephritis
|
|
nephrocalcinosis
|
|
nephrogenic diabetes insipidus
|
|
nephrogenic syndrome of inappropriate antidiuresis
|
|
nephrolithiasis
|
|
nephrolithiasis susceptibility caused by SLC26A1
|
|
nephrolithiasis, X-linked recessive, with renal failure
|
|
nephrolithiasis, calcium oxalate
|
|
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
|
|
nephrolithiasis, uric acid, susceptibility to
|
|
nephrolithiasis/osteoporosis, hypophosphatemic
|
|
nephronophthisis
|
|
nephronophthisis 1
|
|
nephronophthisis 11
|
|
nephronophthisis 12
|
|
nephronophthisis 13
|
|
nephronophthisis 14
|
|
nephronophthisis 15
|
|
nephronophthisis 16
|
|
nephronophthisis 18
|
|
nephronophthisis 19
|
|
nephronophthisis 2
|
|
nephronophthisis 20
|
|
nephronophthisis 3
|
|
nephronophthisis 4
|
|
nephronophthisis 7
|
|
nephronophthisis 9
|
|
nephronophthisis-like nephropathy 1
|
|
nephronophthisis-like nephropathy 2
|
|
nephropathic cystinosis
|
|
nephropathic infantile cystinosis
|
|
nephropathy, chronic tubulointerstitial
|
|
nephrosis
|
|
nephrotic syndrome
|
|
nephrotic syndrome 14
|
|
nephrotic syndrome 15
|
|
nephrotic syndrome 16
|
|
nephrotic syndrome, IIa 26
|
|
nephrotic syndrome, type 10
|
|
nephrotic syndrome, type 11
|
|
nephrotic syndrome, type 12
|
|
nephrotic syndrome, type 13
|
|
nephrotic syndrome, type 17
|
|
nephrotic syndrome, type 18
|
|
nephrotic syndrome, type 19
|
|
nephrotic syndrome, type 2
|
|
nephrotic syndrome, type 20
|
|
nephrotic syndrome, type 21
|
|
nephrotic syndrome, type 22
|
|
nephrotic syndrome, type 23
|
|
nephrotic syndrome, type 24
|
|
nephrotic syndrome, type 3
|
|
nephrotic syndrome, type 4
|
|
nephrotic syndrome, type 6
|
|
nephrotic syndrome, type 8
|
|
nephrotic syndrome, type 9
|
|
nerve compression syndrome
|
|
nerve plexus disorder
|
|
nerve sheath neoplasm
|
|
nervous system benign neoplasm
|
|
nervous system cancer
|
|
nervous system disorder
|
|
nervous system neoplasm
|
|
neural tube defect
|
|
neural tube defects, folate-sensitive
|
|
neural tube defects, susceptibility to
|
|
neuralgia
|
|
neuralgic amyotrophy
|
|
neuroacanthocytosis
|
|
neuroaxonal dystrophy
|
|
neuroblastic tumor
|
|
neuroblastoma
|
|
neuroblastoma, susceptibility to, 1
|
|
neuroblastoma, susceptibility to, 2
|
|
neuroblastoma, susceptibility to, 3
|
|
neuroblastoma, susceptibility to, 6
|
|
neurocardiofaciodigital syndrome
|
|
neurocirculatory asthenia
|
|
neurocristopathy
|
|
neurocutaneous melanocytosis
|
|
neurocutaneous syndrome
|
|
neurodegeneration and seizures due to copper transport defect
|
|
neurodegeneration with ataxia and late-onset optic atrophy
|
|
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
|
|
neurodegeneration with brain iron accumulation
|
|
neurodegeneration with brain iron accumulation 2A
|
|
neurodegeneration with brain iron accumulation 2B
|
|
neurodegeneration with brain iron accumulation 4
|
|
neurodegeneration with brain iron accumulation 5
|
|
neurodegeneration with brain iron accumulation 6
|
|
neurodegeneration with brain iron accumulation 7
|
|
neurodegeneration with brain iron accumulation 8
|
|
neurodegeneration with brain iron accumulation 9
|
|
neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
|
|
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
|
|
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
|
|
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
|
|
neurodegeneration, childhood-onset, with cerebellar atrophy
|
|
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
|
|
neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
|
|
neurodegeneration, childhood-onset, with progressive microcephaly
|
|
neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
|
|
neurodegeneration, infantile-onset, biotin-responsive
|
|
neurodegenerative disease
|
|
neurodegenerative syndrome due to cerebral folate transport deficiency
|
|
neurodevelopmental disorder
|
|
neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
|
|
neurodevelopmental disorder with absent language and variable seizures
|
|
neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
|
|
neurodevelopmental disorder with alopecia and brain abnormalities
|
|
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
|
|
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
|
|
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
|
|
neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
|
|
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
|
|
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
|
|
neurodevelopmental disorder with central and peripheral motor dysfunction
|
|
neurodevelopmental disorder with central hypotonia and dysmorphic facies
|
|
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
|
|
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
|
|
neurodevelopmental disorder with cerebellar hypoplasia and spasticity
|
|
neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
|
|
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
|
|
neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
|
|
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
|
|
neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
|
|
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
|
|
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
|
|
neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
|
|
neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
|
|
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
|
|
neurodevelopmental disorder with dysmorphic facies and variable seizures
|
|
neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
|
|
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
|
|
neurodevelopmental disorder with dystonia and seizures
|
|
neurodevelopmental disorder with epilepsy and brain atrophy
|
|
neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
|
|
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
|
|
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
|
|
neurodevelopmental disorder with eye movement abnormalities and ataxia
|
|
neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
|
|
neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
|
|
neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
|
|
neurodevelopmental disorder with hearing loss and spasticity
|
|
neurodevelopmental disorder with hyperkinetic movements and dyskinesia
|
|
neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
|
|
neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
|
|
neurodevelopmental disorder with hypotonia and brain abnormalities
|
|
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
|
|
neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
|
|
neurodevelopmental disorder with hypotonia and dysmorphic facies
|
|
neurodevelopmental disorder with hypotonia and gross motor and speech delay
|
|
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
|
|
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
|
|
neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
|
|
neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
|
|
neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
|
|
neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
|
|
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
|
|
neurodevelopmental disorder with hypotonia, microcephaly, and seizures
|
|
neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
|
|
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
|
|
neurodevelopmental disorder with hypotonia, seizures, and absent language
|
|
neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
|
|
neurodevelopmental disorder with impaired language and ataxia and with or without seizures
|
|
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
|
|
neurodevelopmental disorder with impaired speech and hyperkinetic movements
|
|
neurodevelopmental disorder with infantile epileptic spasms
|
|
neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
|
|
neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
|
|
neurodevelopmental disorder with involuntary movements
|
|
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
|
|
neurodevelopmental disorder with language delay and seizures
|
|
neurodevelopmental disorder with language delay and variable cognitive abnormalities
|
|
neurodevelopmental disorder with language impairment and behavioral abnormalities
|
|
neurodevelopmental disorder with microcephaly and dysmorphic facies
|
|
neurodevelopmental disorder with microcephaly and movement abnormalities
|
|
neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
|
|
neurodevelopmental disorder with microcephaly and structural brain anomalies
|
|
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
|
|
neurodevelopmental disorder with microcephaly, ataxia, and seizures
|
|
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
|
|
neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
|
|
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
|
|
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
|
|
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
|
|
neurodevelopmental disorder with microcephaly, hypotonia, and absent language
|
|
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
|
|
neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
|
|
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
|
|
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
|
|
neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
|
|
neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
|
|
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
|
|
neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
|
|
neurodevelopmental disorder with microcephaly, short stature, and speech delay
|
|
neurodevelopmental disorder with midbrain and hindbrain malformations
|
|
neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
|
|
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
|
|
neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
|
|
neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
|
|
neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
|
|
neurodevelopmental disorder with neuromuscular and skeletal abnormalities
|
|
neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
|
|
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
|
|
neurodevelopmental disorder with or without autism or seizures
|
|
neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
|
|
neurodevelopmental disorder with or without early-onset generalized epilepsy
|
|
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
|
|
neurodevelopmental disorder with or without seizures and gait abnormalities
|
|
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
|
|
neurodevelopmental disorder with or without variable movement or behavioral abnormalities
|
|
neurodevelopmental disorder with poor growth and behavioral abnormalities
|
|
neurodevelopmental disorder with poor growth and skeletal anomalies
|
|
neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
|
|
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
|
|
neurodevelopmental disorder with poor language and loss of hand skills
|
|
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
|
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
|
|
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
|
|
neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
|
|
neurodevelopmental disorder with seizures and brain abnormalities
|
|
neurodevelopmental disorder with seizures and brain atrophy
|
|
neurodevelopmental disorder with seizures and gingival overgrowth
|
|
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
|
|
neurodevelopmental disorder with seizures and speech and walking impairment
|
|
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
|
|
neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
|
|
neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
|
|
neurodevelopmental disorder with severe motor impairment and absent language
|
|
neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
|
|
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
|
|
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
|
|
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
|
|
neurodevelopmental disorder with spasticity and poor growth
|
|
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
|
|
neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
|
|
neurodevelopmental disorder with speech delay and variable ocular anomalies
|
|
neurodevelopmental disorder with speech impairment and dysmorphic facies
|
|
neurodevelopmental disorder with speech impairment and with or without seizures
|
|
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
|
|
neurodevelopmental disorder with visual defects and brain anomalies
|
|
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
|
|
neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
|
|
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
|
|
neurodevelopmental, jaw, eye, and digital syndrome
|
|
neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
|
|
neuroendocrine carcinoma
|
|
neuroendocrine disorder
|
|
neuroendocrine neoplasm
|
|
neuroepithelial neoplasm
|
|
neuroepithelioma
|
|
neurofacioskeletal syndrome with or without renal agenesis
|
|
neuroferritinopathy
|
|
neurofibroma
|
|
neurofibromatosis
|
|
neurofibromatosis type 1
|
|
neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
|
|
neurofibromatosis type 2
|
|
neurofibromatosis, familial spinal
|
|
neurofibromatosis-Noonan syndrome
|
|
neurofibrosarcoma
|
|
neurogenic scapuloperoneal syndrome, Kaeser type
|
|
neurohypophyseal diabetes insipidus
|
|
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
|
|
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
|
|
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
|
|
neurological pain disorder
|
|
neurometabolic disorder due to serine deficiency
|
|
neuromuscular disease
|
|
neuromuscular disease and ocular or auditory anomalies with or without seizures
|
|
neuromuscular junction disease
|
|
neuronal ceroid lipofuscinosis
|
|
neuronal ceroid lipofuscinosis 1
|
|
neuronal ceroid lipofuscinosis 10
|
|
neuronal ceroid lipofuscinosis 11
|
|
neuronal ceroid lipofuscinosis 13
|
|
neuronal ceroid lipofuscinosis 2
|
|
neuronal ceroid lipofuscinosis 3
|
|
neuronal ceroid lipofuscinosis 5
|
|
neuronal ceroid lipofuscinosis 7
|
|
neuronal ceroid lipofuscinosis 8
|
|
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
|
|
neuronal intestinal dysplasia
|
|
neuronal intranuclear inclusion disease
|
|
neuronopathy, distal hereditary motor, autosomal dominant
|
|
neuronopathy, distal hereditary motor, autosomal dominant 1
|
|
neuronopathy, distal hereditary motor, autosomal dominant 10
|
|
neuronopathy, distal hereditary motor, autosomal dominant 11
|
|
neuronopathy, distal hereditary motor, autosomal dominant 8
|
|
neuronopathy, distal hereditary motor, autosomal recessive
|
|
neuronopathy, distal hereditary motor, autosomal recessive 10
|
|
neuronopathy, distal hereditary motor, autosomal recessive 4
|
|
neuronopathy, distal hereditary motor, autosomal recessive 5
|
|
neuronopathy, distal hereditary motor, autosomal recessive 7
|
|
neuronopathy, distal hereditary motor, autosomal recessive 8
|
|
neuronopathy, distal hereditary motor, autosomal recessive 9
|
|
neuronopathy, distal hereditary motor, type 2A
|
|
neuronopathy, distal hereditary motor, type 2B
|
|
neuronopathy, distal hereditary motor, type 2C
|
|
neuronopathy, distal hereditary motor, type 2D
|
|
neuronopathy, distal hereditary motor, type 5
|
|
neuronopathy, distal hereditary motor, type 5A
|
|
neuronopathy, distal hereditary motor, type 5B
|
|
neuronopathy, distal hereditary motor, type 5C
|
|
neuronopathy, distal hereditary motor, type 7A
|
|
neuronopathy, distal hereditary motor, type 7B
|
|
neuronopathy, distal hereditary motor, type 9
|
|
neuroocular syndrome
|
|
neurooculocardiogenitourinary syndrome
|
|
neurooculorenal syndrome
|
|
neuropathy, congenital hypomelinating
|
|
neuropathy, congenital hypomyelinating, 2
|
|
neuropathy, congenital hypomyelinating, 3
|
|
neuropathy, hereditary motor and sensory, type 6A
|
|
neuropathy, hereditary motor and sensory, type 6B
|
|
neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
|
|
neuropathy, hereditary sensory and autonomic, type 1A
|
|
neuropathy, hereditary sensory and autonomic, type 1C
|
|
neuropathy, hereditary sensory and autonomic, type 2A
|
|
neuropathy, hereditary sensory and autonomic, type 2B
|
|
neuropathy, hereditary sensory and autonomic, type IId
|
|
neuropathy, hereditary sensory, type 1D
|
|
neuropathy, hereditary sensory, type 1F
|
|
neuropathy, hereditary sensory, type 2C
|
|
neurotic disorder
|
|
neurovascular disorder
|
|
neutral lipid storage disease
|
|
neutral lipid storage myopathy
|
|
neutropenia
|
|
neutropenia, severe congenital, 1, autosomal dominant
|
|
neutropenia, severe congenital, 10, autosomal recessive
|
|
neutropenia, severe congenital, 11, autosomal dominant
|
|
neutropenia, severe congenital, 2, autosomal dominant
|
|
neutropenia, severe congenital, 8, autosomal dominant
|
|
neutropenia, severe congenital, 9, autosomal dominant
|
|
neutrophil immunodeficiency syndrome
|
|
nevoid basal cell carcinoma syndrome
|
|
nevus comedonicus syndrome
|
|
nevus, epidermal
|
|
newborn respiratory distress syndrome
|
|
night blindness
|
|
night blindness, congenital stationary, type1i
|
|
nipples inverted
|
|
nodular goiter
|
|
nodular neuronal heterotopia
|
|
noise induced hearing loss
|
|
non-Hodgkin lymphoma
|
|
non-Langerhans cell histiocytosis
|
|
non-SCID combined immunodeficiency
|
|
non-Zellweger spectrum disorder
|
|
non-acquired combined pituitary hormone deficiency
|
|
non-acquired combined pituitary hormone deficiency with spine abnormalities
|
|
non-acquired pituitary hormone deficiency
|
|
non-familial hypertrophic cardiomyopathy
|
|
non-familial restrictive cardiomyopathy
|
|
non-immune hydrops fetalis
|
|
non-immunoglobulin-mediated membranoproliferative glomerulonephritis
|
|
non-neoplastic bile duct disorder
|
|
non-rhizomelic chondrodysplasia punctata
|
|
non-small cell lung carcinoma
|
|
non-spherocytic hemolytic anemia due to hexokinase deficiency
|
|
non-syndromic X-linked intellectual disability
|
|
non-syndromic intellectual disability
|
|
non-syndromic limb reduction defect
|
|
non-syndromic polydactyly
|
|
non-syndromic syndactyly
|
|
non-syndromic synpolydactyly
|
|
nonarteritic anterior ischemic optic neuropathy, susceptibility to
|
|
nongerminomatous germ cell tumor
|
|
nonimmune chronic idiopathic neutropenia of adults
|
|
nonpapillary renal cell carcinoma
|
|
nonsyndromic congenital nail disorder 1
|
|
nonsyndromic congenital nail disorder 3
|
|
nonsyndromic congenital nail disorder 4
|
|
nonsyndromic congenital nail disorder 8
|
|
nonsyndromic deafness, Y-linked
|
|
nonsyndromic genetic hearing loss
|
|
nontoxic goiter
|
|
noonan syndrome 12
|
|
normal pressure hydrocephalus
|
|
normocytic anemia
|
|
normophosphatemic familial tumoral calcinosis
|
|
notochordal tumor
|
|
nuclear oculomotor paralysis
|
|
nutritional biotin deficiency
|
|
nutritional deficiency disease
|
|
nutritional disorder
|
|
nystagmus 1, congenital, X-linked
|
|
nystagmus 6, congenital, X-linked
|
|
nystagmus, congenital, autosomal recessive
|
|
obesity disorder
|
|
obesity due to CEP19 deficiency
|
|
obesity due to SIM1 deficiency
|
|
obesity due to congenital leptin deficiency
|
|
obesity due to leptin receptor gene deficiency
|
|
obesity due to melanocortin 4 receptor deficiency
|
|
obesity due to pro-opiomelanocortin deficiency
|
|
obesity due to prohormone convertase I deficiency
|
|
obesity, hyperphagia, and developmental delay
|
|
obsessive-compulsive disorder
|
|
obsolete AP4-related intellectual disability and spastic paraplegia
|
|
obsolete Bombay phenotype
|
|
obsolete Chitotriosidase deficiency
|
|
obsolete DICER1 syndrome
|
|
obsolete Duchenne and Becker muscular dystrophy
|
|
obsolete Ehlers-Danlos syndrome with periventricular heterotopia
|
|
obsolete Heimler syndrome
|
|
obsolete Heimler syndrome 1
|
|
obsolete Heimler syndrome 2
|
|
obsolete Holmes-Gang syndrome
|
|
obsolete Juberg-Marsidi syndrome
|
|
obsolete Leigh syndrome with leukodystrophy
|
|
obsolete Leigh syndrome with nephrotic syndrome
|
|
obsolete Li-Fraumeni syndrome 1
|
|
obsolete Li-Fraumeni syndrome 2
|
|
obsolete MRX52
|
|
obsolete MRX78
|
|
obsolete Noonan-like/multiple giant cell lesion syndrome
|
|
obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
|
|
obsolete Renier-Gabreels-Jasper syndrome
|
|
obsolete Torg-Winchester syndrome
|
|
obsolete accelerated tumor formation, susceptibility to
|
|
obsolete acrodysostosis with multiple hormone resistance
|
|
obsolete actn3 deficiency
|
|
obsolete adrenal hyperplasia
|
|
obsolete adult hypophosphatasia
|
|
obsolete anophthalmia-microphthalmia syndrome
|
|
obsolete apnea, central sleep
|
|
obsolete apocrine gland secretion, variation 1n
|
|
obsolete apolipoprotein A-I deficiency
|
|
obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
|
|
obsolete autosomal dominant secondary polycythemia
|
|
obsolete autosomal recessive Stickler syndrome
|
|
obsolete autosomal recessive lymphoproliferative disease
|
|
obsolete autosomal recessive nail dysplasia
|
|
obsolete autosomal recessive optic atrophy
|
|
obsolete bilirubin, serum level of, quantitative trait locus 1
|
|
obsolete bleeding diathesis due to a collagen receptor defect
|
|
obsolete blood group system, landsteiner-wiener
|
|
obsolete blood group, 1 system
|
|
obsolete blood group, diego system
|
|
obsolete blood group, duffy system
|
|
obsolete blood group, gerbich system
|
|
obsolete blood group, kidd system
|
|
obsolete blood group, langereis system
|
|
obsolete blood group, ss
|
|
obsolete blood group, vel system
|
|
obsolete blood group--kell system
|
|
obsolete blood group--lutheran inhibitor
|
|
obsolete blood group--lutheran system
|
|
obsolete blood group--ok
|
|
obsolete blood group--scianna system
|
|
obsolete blood group--waldner type
|
|
obsolete blood group--wright antigen
|
|
obsolete body mass index quantitative trait locus 18
|
|
obsolete body mass index quantitative trait locus 19
|
|
obsolete body mass index quantitative trait locus 9
|
|
obsolete bone mineral density quantitative trait locus 1
|
|
obsolete bone mineral density quantitative trait locus 15
|
|
obsolete c3hex, ability to smell
|
|
obsolete carotid intimal medial thickness 1
|
|
obsolete channelopathy
|
|
obsolete childhood hypophosphatasia
|
|
obsolete colchicine resistance
|
|
obsolete congenital cornea plana
|
|
obsolete congenital deficiency in alpha-fetoprotein
|
|
obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
|
|
obsolete congenital myasthenic syndromes with glycosylation defect
|
|
obsolete conjunctival telangiectasia
|
|
obsolete deafness, nonsyndromic, modifier 1
|
|
obsolete deafness-onychodystrophy syndrome
|
|
obsolete dilated cardiomyopathy 1T
|
|
obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis
|
|
obsolete eculizumab, poor response to
|
|
obsolete efavirenz, poor metabolism of
|
|
obsolete epiblepharon of lower 51d
|
|
obsolete erythrocyte AMP deaminase deficiency
|
|
obsolete facial hypertrichosis
|
|
obsolete familial infantile gigantism
|
|
obsolete familial isolated dilated cardiomyopathy
|
|
obsolete familial isolated restrictive cardiomyopathy
|
|
obsolete glaucoma 1, open angle, B
|
|
obsolete glaucoma 1, open angle, F
|
|
obsolete glaucoma 1, open angle, G
|
|
obsolete glaucoma 1, open angle, H
|
|
obsolete glycerol quantitative trait locus
|
|
obsolete glycogen storage disease due to phosphorylase kinase deficiency
|
|
obsolete hair whorl
|
|
obsolete hemifacial microsomia
|
|
obsolete hemoglobin, high altitude adaptation
|
|
obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary
|
|
obsolete hereditary persistence of alpha-fetoprotein
|
|
obsolete hereditary thrombocytopenia with normal platelets
|
|
obsolete high density lipoprotein cholesterol level quantitative trait locus 7
|
|
obsolete hypertelorism
|
|
obsolete hypertension, diastolic, resistance to
|
|
obsolete hypohidrosis
|
|
obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
|
|
obsolete idiopathic and/or familial pulmonary arterial hypertension
|
|
obsolete infantile hypophosphatasia
|
|
obsolete inguinal hernia
|
|
obsolete inherited genitourinary tract anomalies
|
|
obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome
|
|
obsolete invasive pneumococcal disease, recurrent isolated
|
|
obsolete isolated Klippel-Feil syndrome
|
|
obsolete isolated anorectal malformation
|
|
obsolete isolated brachycephaly
|
|
obsolete isolated corpus callosum agenesis
|
|
obsolete isolated plagiocephaly
|
|
obsolete isolated scaphocephaly
|
|
obsolete lens position anomaly
|
|
obsolete leukoencephalopathy with vanishing white matter
|
|
obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
|
|
obsolete lutheran null
|
|
obsolete microcephalic primordial dwarfism
|
|
obsolete microcephalic primordial dwarfism-insulin resistance syndrome
|
|
obsolete microcephaly-digital anomalies-intellectual disability syndrome
|
|
obsolete molybdenum cofactor deficiency
|
|
obsolete multiple chemical sensitivity
|
|
obsolete muscular lipidosis
|
|
obsolete myoclonic epilepsy, progressive, X-linked
|
|
obsolete neonatal adrenoleukodystrophy
|
|
obsolete neurogenic bladder
|
|
obsolete non-syndromic male infertility due to sperm motility disorder
|
|
obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency
|
|
obsolete ovarioleukodystrophy
|
|
obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome
|
|
obsolete patella aplasia, coxa vara, and tarsal synostosis
|
|
obsolete preimplantation embryonic lethality 1
|
|
obsolete preimplantation embryonic lethality 2
|
|
obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome
|
|
obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
|
|
obsolete progressive cerebello-cerebral atrophy
|
|
obsolete pulmonary arterial hypertension associated with HIV infection
|
|
obsolete pulmonary arterial hypertension associated with congenital heart disease
|
|
obsolete pulmonary arterial hypertension associated with connective tissue disease
|
|
obsolete pulmonary arteriovenous malformation
|
|
obsolete radin blood group antigen
|
|
obsolete rare arteriovenous malformation
|
|
obsolete rare disorder with ptosis
|
|
obsolete rare genetic deafness
|
|
obsolete rare genetic intellectual disability
|
|
obsolete rare head and neck tumor
|
|
obsolete rare isolated myopia
|
|
obsolete rare malignant breast tumor
|
|
obsolete rare pervasive developmental disorder
|
|
obsolete rare renal tubular disease
|
|
obsolete rare syndromic intellectual disability
|
|
obsolete rare tumor of liver and intrahepatic biliary tract
|
|
obsolete rhabdomyolysis
|
|
obsolete right bundle branch block
|
|
obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
|
|
obsolete short sleep, familial natural, 1
|
|
obsolete short sleep, familial natural, 2
|
|
obsolete skeletal muscle glycogen content and metabolism quantitative trait locus
|
|
obsolete skin/hair/eye pigmentation, variation in, 1
|
|
obsolete skin/hair/eye pigmentation, variation in, 11
|
|
obsolete skin/hair/eye pigmentation, variation in, 2
|
|
obsolete skin/hair/eye pigmentation, variation in, 5
|
|
obsolete skin/hair/eye pigmentation, variation in, 6
|
|
obsolete sodium channelopathy-related small fiber neuropathy
|
|
obsolete spherocytosis
|
|
obsolete sudden cardiac death
|
|
obsolete sudden infant death syndrome
|
|
obsolete susceptibility to ischemic stroke
|
|
obsolete syndromic anorectal malformation
|
|
obsolete syndromic retinitis pigmentosa
|
|
obsolete teratozoospermia
|
|
obsolete thiourea tasting
|
|
obsolete trichorhinophalangeal syndrome type I or III
|
|
obsolete umbilical hernia
|
|
obsolete uric acid concentration, serum, quantitative trait locus 4
|
|
obsolete warfarin sensitivity, X-linked
|
|
obstetric disorder
|
|
obstructive lung disease
|
|
obstructive sleep apnea syndrome
|
|
occipital encephalocele
|
|
occipital horn syndrome
|
|
occipital pachygyria and polymicrogyria
|
|
occlusion precerebral artery
|
|
occult macular dystrophy
|
|
ocular albinism
|
|
ocular cancer
|
|
ocular cystinosis
|
|
ocular melanoma
|
|
ocular motility disease
|
|
ocular vascular disorder
|
|
oculoauricular syndrome
|
|
oculoauriculovertebral spectrum with radial defects
|
|
oculocerebrodental syndrome
|
|
oculocerebrofacial syndrome, Kaufman type
|
|
oculocerebrorenal syndrome
|
|
oculocutaneous albinism
|
|
oculocutaneous albinism type 1
|
|
oculocutaneous albinism type 1A
|
|
oculocutaneous albinism type 1B
|
|
oculocutaneous albinism type 2
|
|
oculocutaneous albinism type 3
|
|
oculocutaneous albinism type 4
|
|
oculocutaneous albinism type 6
|
|
oculocutaneous albinism type 7
|
|
oculocutaneous albinism type 8
|
|
oculodentodigital dysplasia
|
|
oculodentodigital dysplasia, autosomal recessive
|
|
oculogastrointestinal-neurodevelopmental syndrome
|
|
oculomaxillofacial dysostosis
|
|
oculomotor nerve paralysis
|
|
oculomotor-abducens synkinesis
|
|
oculopharyngeal muscular dystrophy
|
|
oculopharyngeal muscular dystrophy 2
|
|
oculopharyngeal myopathy with leukoencephalopathy 1
|
|
oculopharyngodistal myopathy
|
|
oculopharyngodistal myopathy 1
|
|
oculopharyngodistal myopathy 2
|
|
oculopharyngodistal myopathy 3
|
|
oculopharyngodistal myopathy 4
|
|
oculotrichoanal syndrome
|
|
odonto-onycho-dermal dysplasia
|
|
odontochondrodysplasia
|
|
odontochondrodysplasia 1
|
|
odontochondrodysplasia 2 with hearing loss and diabetes
|
|
odontohypophosphatasia
|
|
odontoleukodystrophy
|
|
oligoastrocytoma
|
|
oligodendroglial tumor
|
|
oligodendroglioma
|
|
oligodontia-cancer predisposition syndrome
|
|
oligohydramnios
|
|
oligosaccharidosis
|
|
oligospermia
|
|
olivopontocerebellar atrophy
|
|
omodysplasia
|
|
omphalocele
|
|
oncocytic adenoma
|
|
oncocytic neoplasm
|
|
onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
|
|
oocyte maturation defect 10
|
|
oocyte maturation defect 11
|
|
oocyte maturation defect 12
|
|
oocyte maturation defect 13
|
|
oocyte maturation defect 14
|
|
oocyte maturation defect 2
|
|
oocyte maturation defect 3
|
|
oocyte maturation defect 4
|
|
oocyte maturation defect 5
|
|
oocyte maturation defect 6
|
|
oocyte maturation defect 7
|
|
oocyte maturation defect 8
|
|
oocyte maturation defect 9
|
|
oocyte/zygote/embryo maturation arrest 17
|
|
oocyte/zygote/embryo maturation arrest 18
|
|
oocyte/zygote/embryo maturation arrest 19
|
|
oocyte/zygote/embryo maturation arrest 20
|
|
oocyte/zygote/embryo maturation arrest 21
|
|
open-angle glaucoma
|
|
ophthalmoplegia, external, with rib and vertebral anomalies
|
|
opioid dependence, susceptibility to, 1
|
|
opportunistic mycosis
|
|
oppositional defiant disorder
|
|
opsismodysplasia
|
|
opsoclonus-myoclonus syndrome
|
|
optic atrophy
|
|
optic atrophy 10 with or without ataxia, intellectual disability, and seizures
|
|
optic atrophy 11
|
|
optic atrophy 12
|
|
optic atrophy 13 with retinal and foveal abnormalities
|
|
optic atrophy 14
|
|
optic atrophy 15
|
|
optic atrophy 16
|
|
optic atrophy 2
|
|
optic atrophy 3
|
|
optic atrophy 5
|
|
optic atrophy 9
|
|
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
|
|
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
|
|
optic choroid disorder
|
|
optic disk drusen
|
|
optic nerve disorder
|
|
optic nerve glioma
|
|
optic nerve neoplasm
|
|
optic pathway glioma
|
|
ornithine aminotransferase deficiency
|
|
ornithine carbamoyltransferase deficiency
|
|
ornithine translocase deficiency
|
|
orofacial cleft
|
|
orofacial cleft 1
|
|
orofacial cleft 10
|
|
orofacial cleft 11
|
|
orofacial cleft 13
|
|
orofacial cleft 15
|
|
orofacial cleft 2
|
|
orofacial cleft 3
|
|
orofacial cleft 5
|
|
orofacial cleft 6, susceptibility to
|
|
orofacial cleft 7
|
|
orofacial cleft 8
|
|
orofaciodigital syndrome
|
|
orofaciodigital syndrome 16
|
|
orofaciodigital syndrome 17
|
|
orofaciodigital syndrome 18
|
|
orofaciodigital syndrome 19
|
|
orofaciodigital syndrome 20
|
|
orofaciodigital syndrome I
|
|
orofaciodigital syndrome III
|
|
orofaciodigital syndrome IV
|
|
orofaciodigital syndrome IX
|
|
orofaciodigital syndrome V
|
|
orofaciodigital syndrome XV
|
|
orofaciodigital syndrome type 14
|
|
orofaciodigital syndrome type 6
|
|
orofaciodigital syndrome type II
|
|
oromandibular dystonia
|
|
oromandibular-limb anomalies syndrome
|
|
oromandibular-limb hypogenesis syndrome
|
|
orotic aciduria
|
|
orthostatic hypotension
|
|
orthostatic hypotension 1
|
|
orthostatic hypotension 2
|
|
osteoarthritis
|
|
osteoarthritis susceptibility 1
|
|
osteoarthritis susceptibility 2
|
|
osteoarthritis susceptibility 3
|
|
osteoarthritis susceptibility 5
|
|
osteoarthritis, hip
|
|
osteoblastic osteosarcoma
|
|
osteochondritis dissecans
|
|
osteochondrodysplasia
|
|
osteochondrodysplasia, brachydactyly, and overlapping malformed digits
|
|
osteochondrosis
|
|
osteocraniostenosis
|
|
osteofibrous dysplasia
|
|
osteogenesis imperfecta
|
|
osteogenesis imperfecta and a reduction of bone mineral density.
|
|
osteogenesis imperfecta type 1
|
|
osteogenesis imperfecta type 10
|
|
osteogenesis imperfecta type 11
|
|
osteogenesis imperfecta type 12
|
|
osteogenesis imperfecta type 13
|
|
osteogenesis imperfecta type 14
|
|
osteogenesis imperfecta type 15
|
|
osteogenesis imperfecta type 16
|
|
osteogenesis imperfecta type 17
|
|
osteogenesis imperfecta type 2
|
|
osteogenesis imperfecta type 3
|
|
osteogenesis imperfecta type 4
|
|
osteogenesis imperfecta type 5
|
|
osteogenesis imperfecta type 6
|
|
osteogenesis imperfecta type 7
|
|
osteogenesis imperfecta type 8
|
|
osteogenesis imperfecta type 9
|
|
osteogenesis imperfecta, IIA 22
|
|
osteogenesis imperfecta, type 18
|
|
osteogenesis imperfecta, type 19
|
|
osteogenesis imperfecta, type 20
|
|
osteogenesis imperfecta, type 21
|
|
osteogenesis imperfecta, type 23
|
|
osteoglophonic dwarfism
|
|
osteomyelitis
|
|
osteonecrosis
|
|
osteonecrosis of genetic origin
|
|
osteootohepatoenteric syndrome
|
|
osteopathia striata with cranial sclerosis
|
|
osteopetrosis
|
|
osteopetrosis, autosomal dominant 3
|
|
osteopetrosis, autosomal recessive 9
|
|
osteopoikilosis
|
|
osteoporosis
|
|
osteoporosis, childhood- or juvenile-onset, with developmental delay
|
|
osteoporosis-pseudoglioma syndrome
|
|
osteosarcoma
|
|
osteosclerosis
|
|
osteosclerotic metaphyseal dysplasia
|
|
otitis media
|
|
otitis media, susceptibility to
|
|
otofaciocervical syndrome
|
|
otofaciocervical syndrome 1
|
|
otofaciocervical syndrome 2
|
|
otopalatodigital syndrome
|
|
otopalatodigital syndrome spectrum disorder
|
|
otopalatodigital syndrome type 1
|
|
otopalatodigital syndrome type 2
|
|
otorhinolaryngologic disease
|
|
otosclerosis
|
|
otosclerosis 11
|
|
otospondylomegaepiphyseal dysplasia
|
|
otospondylomegaepiphyseal dysplasia, autosomal dominant
|
|
otospondylomegaepiphyseal dysplasia, autosomal recessive
|
|
ovarian adenocarcinoma
|
|
ovarian cancer
|
|
ovarian carcinoma
|
|
ovarian cyst
|
|
ovarian cystadenocarcinoma
|
|
ovarian disorder
|
|
ovarian dysfunction
|
|
ovarian dysgenesis 1
|
|
ovarian dysgenesis 10
|
|
ovarian dysgenesis 2
|
|
ovarian dysgenesis 3
|
|
ovarian dysgenesis 5
|
|
ovarian dysgenesis 6
|
|
ovarian dysgenesis 7
|
|
ovarian dysgenesis 8
|
|
ovarian dysgenesis 9
|
|
ovarian epithelial tumor
|
|
ovarian germ cell tumor
|
|
ovarian granulosa cell tumor
|
|
ovarian hyperstimulation syndrome
|
|
ovarian neoplasm
|
|
ovarian papillary tumor
|
|
ovarian serous adenocarcinoma
|
|
ovarian serous cystadenocarcinoma
|
|
ovarian serous surface papillary adenocarcinoma
|
|
ovarian serous tumor
|
|
ovarian sex cord-stromal tumor
|
|
overactive bladder
|
|
overgrowth syndrome
|
|
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
|
|
overhydrated hereditary stomatocytosis
|
|
overlapping connective tissue disease
|
|
overnutrition
|
|
oxoglutaricaciduria
|
|
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
|
|
pachyonychia congenita
|
|
pachyonychia congenita 1
|
|
pachyonychia congenita 2
|
|
pachyonychia congenita 3
|
|
pachyonychia congenita 4
|
|
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
|
|
palmoplantar keratoderma i, striate, focal, or diffuse
|
|
palmoplantar keratoderma, Bothnian type
|
|
palmoplantar keratoderma, Nagashima type
|
|
palmoplantar keratoderma, epidermolytic, 2
|
|
palmoplantar keratoderma, nonepidermolytic, focal 1
|
|
palmoplantar keratoderma, nonepidermolytic, focal or diffuse
|
|
palmoplantar keratoderma, punctate type 1A
|
|
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
|
|
palmoplantar keratoderma-deafness syndrome
|
|
palmoplantar keratoderma-esophageal carcinoma syndrome
|
|
palmoplantar keratoderma-sclerodactyly syndrome
|
|
palmoplantar keratosis
|
|
palpebral epidermal tumor
|
|
palpebral nevus
|
|
palsy
|
|
pancreas disorder
|
|
pancreatic adenocarcinoma
|
|
pancreatic agenesis
|
|
pancreatic agenesis 1
|
|
pancreatic agenesis 2
|
|
pancreatic beta cell agenesis with neonatal diabetes mellitus
|
|
pancreatic cancer, susceptibility to, 1
|
|
pancreatic cancer, susceptibility to, 2
|
|
pancreatic cancer, susceptibility to, 3
|
|
pancreatic cancer, susceptibility to, 4
|
|
pancreatic cancer, susceptibility to, 5
|
|
pancreatic exocrine neoplasm
|
|
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
|
|
pancreatic insufficiency-anemia-hyperostosis syndrome
|
|
pancreatic neoplasm
|
|
pancreatic triacylglycerol lipase deficiency
|
|
pancreatitis
|
|
pancytopenia
|
|
pancytopenia due to IKZF1 mutations
|
|
pancytopenia-developmental delay syndrome
|
|
panhypopituitarism
|
|
panhypopituitarism, X-linked
|
|
pantothenate kinase-associated neurodegeneration
|
|
papillary adenocarcinoma
|
|
papillary carcinoma
|
|
papillary carcinoma of the corpus uteri
|
|
papillary epithelial neoplasm
|
|
papillary renal cell carcinoma
|
|
papillary tumor of the pineal region
|
|
papilloma
|
|
paraganglioma
|
|
paragangliomas 1
|
|
paragangliomas 2
|
|
paragangliomas 3
|
|
paragangliomas 4
|
|
paragangliomas 5
|
|
paragangliomas 6
|
|
paragangliomas 7
|
|
paramyotonia congenita of Von Eulenburg
|
|
paranasal sinus disorder
|
|
paraneoplastic neurologic syndrome
|
|
paraneoplastic syndrome
|
|
paraplegia
|
|
paraplegia-intellectual disability-hyperkeratosis syndrome
|
|
parasitic infectious disease
|
|
parastremmatic dwarfism
|
|
parasympathetic nervous system disorder
|
|
parasympathetic paraganglioma
|
|
parathyroid gland adenoma
|
|
parathyroid gland carcinoma
|
|
parathyroid gland disorder
|
|
parenti-mignot neurodevelopmental syndrome
|
|
parietal foramina
|
|
parietal foramina 1
|
|
parietal foramina 2
|
|
parietal foramina with cleidocranial dysplasia
|
|
parkinson disease 19B, early-onset
|
|
parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
|
|
parkinsonian disorder
|
|
parkinsonian-pyramidal syndrome
|
|
parkinsonism due to ATP13A2 deficiency
|
|
parkinsonism with polyneuropathy
|
|
parkinsonism-dystonia 3, childhood-onset
|
|
parkinsonism-dystonia, infantile
|
|
paroxysmal dyskinesia
|
|
paroxysmal dystonia
|
|
paroxysmal extreme pain disorder
|
|
paroxysmal familial ventricular fibrillation
|
|
paroxysmal nocturnal hemoglobinuria
|
|
paroxysmal nocturnal hemoglobinuria 1
|
|
paroxysmal nocturnal hemoglobinuria 2
|
|
paroxysmal nonkinesigenic dyskinesia
|
|
paroxysmal nonkinesigenic dyskinesia 1
|
|
partial androgen insensitivity syndrome
|
|
partial bilateral aplasia of the mullerian ducts
|
|
partial chromosome Y deletion
|
|
partial deletion of chromosome 1
|
|
partial deletion of chromosome 10
|
|
partial deletion of chromosome 11
|
|
partial deletion of chromosome 12
|
|
partial deletion of chromosome 16
|
|
partial deletion of chromosome 17
|
|
partial deletion of chromosome 18
|
|
partial deletion of chromosome 19
|
|
partial deletion of chromosome 2
|
|
partial deletion of chromosome 20
|
|
partial deletion of chromosome 3
|
|
partial deletion of chromosome 4
|
|
partial deletion of chromosome 5
|
|
partial deletion of chromosome 6
|
|
partial deletion of chromosome 7
|
|
partial deletion of chromosome 8
|
|
partial deletion of chromosome 9
|
|
partial deletion of chromosome X
|
|
partial deletion of the long arm of chromosome 11
|
|
partial deletion of the long arm of chromosome 13
|
|
partial deletion of the long arm of chromosome 15
|
|
partial deletion of the long arm of chromosome 16
|
|
partial deletion of the long arm of chromosome 17
|
|
partial deletion of the long arm of chromosome 19
|
|
partial deletion of the long arm of chromosome 2
|
|
partial deletion of the long arm of chromosome 21
|
|
partial deletion of the long arm of chromosome 3
|
|
partial deletion of the long arm of chromosome 4
|
|
partial deletion of the long arm of chromosome 5
|
|
partial deletion of the long arm of chromosome 6
|
|
partial deletion of the long arm of chromosome 7
|
|
partial deletion of the long arm of chromosome 8
|
|
partial deletion of the short arm of chromosome 1
|
|
partial deletion of the short arm of chromosome 10
|
|
partial deletion of the short arm of chromosome 11
|
|
partial deletion of the short arm of chromosome 16
|
|
partial deletion of the short arm of chromosome 19
|
|
partial deletion of the short arm of chromosome 2
|
|
partial deletion of the short arm of chromosome 3
|
|
partial deletion of the short arm of chromosome 5
|
|
partial duplication of chromosome 1
|
|
partial duplication of chromosome 10
|
|
partial duplication of chromosome 11
|
|
partial duplication of chromosome 12
|
|
partial duplication of chromosome 16
|
|
partial duplication of chromosome 17
|
|
partial duplication of chromosome 19
|
|
partial duplication of chromosome 2
|
|
partial duplication of chromosome 3
|
|
partial duplication of chromosome 4
|
|
partial duplication of chromosome 7
|
|
partial duplication of chromosome 8
|
|
partial duplication of chromosome X
|
|
partial duplication of the long arm of chromosome 1
|
|
partial duplication of the long arm of chromosome 10
|
|
partial duplication of the long arm of chromosome 14
|
|
partial duplication of the long arm of chromosome 15
|
|
partial duplication of the long arm of chromosome 17
|
|
partial duplication of the long arm of chromosome 2
|
|
partial duplication of the long arm of chromosome 22
|
|
partial duplication of the long arm of chromosome 3
|
|
partial duplication of the long arm of chromosome 7
|
|
partial duplication of the long arm of chromosome 8
|
|
partial duplication of the long arm of chromosome X
|
|
partial duplication of the short arm of chromosome 1
|
|
partial duplication of the short arm of chromosome 16
|
|
partial duplication of the short arm of chromosome 17
|
|
partial duplication of the short arm of chromosome 19
|
|
partial duplication of the short arm of chromosome 4
|
|
partial duplication of the short arm of chromosome 7
|
|
partial duplication of the short arm of chromosome 8
|
|
partial lipodystrophy
|
|
partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
|
|
partial monosomy of the long arm of chromosome 10
|
|
partial monosomy of the long arm of chromosome 9
|
|
partial monosomy of the short arm of chromosome 20
|
|
partial monosomy of the short arm of chromosome X
|
|
partial trisomy of the long arm of chromosome 5
|
|
partial trisomy/tetrasomy of chromosome 5
|
|
partial trisomy/tetrasomy of chromosome 9
|
|
partial trisomy/tetrasomy of the short arm of chromosome 12
|
|
partial trisomy/tetrasomy of the short arm of chromosome 5
|
|
patent ductus arteriosus
|
|
patent ductus arteriosus 2
|
|
patent ductus arteriosus 3
|
|
patent foramen ovale
|
|
paternal uniparental disomy of chromosome 14
|
|
pathologic nystagmus
|
|
patterned dystrophy of the retinal pigment epithelium
|
|
patterned macular dystrophy
|
|
patterned macular dystrophy 1
|
|
patterned macular dystrophy 2
|
|
patterned macular dystrophy 3
|
|
pectus excavatum
|
|
pediatric acute respiratory distress syndrome
|
|
pediatric fibrosarcoma
|
|
pediatric hepatocellular carcinoma
|
|
peeling skin syndrome
|
|
peeling skin syndrome 1
|
|
peeling skin syndrome 4
|
|
peeling skin syndrome 5
|
|
peeling skin syndrome 6
|
|
peeling skin syndrome type A
|
|
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
|
|
pelvic organ prolapse, susceptibility to
|
|
pelvic varices
|
|
pelviscapular dysplasia
|
|
pemphigus
|
|
penoscrotal transposition
|
|
pentosuria
|
|
perceptual disorders
|
|
periampullary adenoma
|
|
pericardial effusion
|
|
pericardium disorder
|
|
pericytic neoplasm
|
|
perinatal asphyxia
|
|
perinatal lethal hypophosphatasia
|
|
periodic fever syndrome
|
|
periodic fever, immunodeficiency, and thrombocytopenia syndrome
|
|
periodic fever-infantile enterocolitis-autoinflammatory syndrome
|
|
periodic paralysis
|
|
periodontal disorder
|
|
periodontitis
|
|
periodontitis, aggressive 1
|
|
peripheral arterial occlusive disease 1
|
|
peripheral hypothyroidism
|
|
peripheral motor neuropathy, childhood-onset, biotin-responsive
|
|
peripheral nervous system cancer
|
|
peripheral nervous system disorder
|
|
peripheral nervous system neoplasm
|
|
peripheral neuropathy
|
|
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
|
|
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
|
|
peripheral osteosarcoma
|
|
peripheral precocious puberty
|
|
peripheral resistance to thyroid hormones
|
|
peripheral retinal degeneration
|
|
peripheral vascular disease
|
|
peripheral vertigo
|
|
peritoneal carcinoma
|
|
peritoneal mesothelioma
|
|
peritoneal neoplasm
|
|
peritoneum cancer
|
|
periventricular heterotopia with microcephaly, autosomal recessive
|
|
periventricular leukomalacia
|
|
periventricular nodular heterotopia
|
|
periventricular nodular heterotopia 6
|
|
periventricular nodular heterotopia 7
|
|
periventricular nodular heterotopia 8
|
|
periventricular nodular heterotopia 9
|
|
permanent congenital hypothyroidism
|
|
permanent neonatal diabetes mellitus
|
|
permanent neonatal diabetes mellitus 1
|
|
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
|
|
peroxisomal acyl-CoA oxidase deficiency
|
|
peroxisomal disease
|
|
peroxisomal single enzyme/protein defect
|
|
peroxisome biogenesis disorder
|
|
peroxisome biogenesis disorder 10A (Zellweger)
|
|
peroxisome biogenesis disorder 10B
|
|
peroxisome biogenesis disorder 11A (Zellweger)
|
|
peroxisome biogenesis disorder 11B
|
|
peroxisome biogenesis disorder 12A (Zellweger)
|
|
peroxisome biogenesis disorder 13A (Zellweger)
|
|
peroxisome biogenesis disorder 14B
|
|
peroxisome biogenesis disorder 1A (Zellweger)
|
|
peroxisome biogenesis disorder 1B
|
|
peroxisome biogenesis disorder 2A (Zellweger)
|
|
peroxisome biogenesis disorder 2B
|
|
peroxisome biogenesis disorder 3A (Zellweger)
|
|
peroxisome biogenesis disorder 4A (Zellweger)
|
|
peroxisome biogenesis disorder 4B
|
|
peroxisome biogenesis disorder 5A (Zellweger)
|
|
peroxisome biogenesis disorder 5B
|
|
peroxisome biogenesis disorder 6A (Zellweger)
|
|
peroxisome biogenesis disorder 6B
|
|
peroxisome biogenesis disorder 7A (Zellweger)
|
|
peroxisome biogenesis disorder 7B
|
|
peroxisome biogenesis disorder 8A (Zellweger)
|
|
peroxisome biogenesis disorder 8B
|
|
peroxisome biogenesis disorder 9B
|
|
peroxisome biogenesis disorder due to PEX1 defect
|
|
peroxisome biogenesis disorder due to PEX10 defect
|
|
peroxisome biogenesis disorder due to PEX11B defect
|
|
peroxisome biogenesis disorder due to PEX12 defect
|
|
peroxisome biogenesis disorder due to PEX13 defect
|
|
peroxisome biogenesis disorder due to PEX14 defect
|
|
peroxisome biogenesis disorder due to PEX16 defect
|
|
peroxisome biogenesis disorder due to PEX19 defect
|
|
peroxisome biogenesis disorder due to PEX2 defect
|
|
peroxisome biogenesis disorder due to PEX26 defect
|
|
peroxisome biogenesis disorder due to PEX3 defect
|
|
peroxisome biogenesis disorder due to PEX5 defect
|
|
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
|
|
peroxisome biogenesis disorder due to PEX6 defect
|
|
peroxisome biogenesis disorder due to PEX7 defect
|
|
peroxisome biogenesis disorder type 3B
|
|
peroxisome biogenesis disorder, complementation group K
|
|
persistent Mullerian duct syndrome
|
|
persistent hyperplastic primary vitreous
|
|
persistent hyperplastic primary vitreous, autosomal recessive
|
|
persistent truncus arteriosus
|
|
pervasive developmental disorder
|
|
phacogenic glaucoma
|
|
phagocyte bactericidal dysfunction
|
|
phagocytic cell dysfunction
|
|
pharynx cancer
|
|
pharynx neoplasm
|
|
phenylketonuria
|
|
pheochromocytoma
|
|
phocomelia, Schinzel type
|
|
phosphoenolpyruvate carboxykinase deficiency
|
|
phosphoenolpyruvate carboxykinase deficiency, cytosolic
|
|
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
|
|
phosphohydroxylysinuria
|
|
phosphoribosylaminoimidazole carboxylase deficiency
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
|
phosphorus metabolism disease
|
|
photosensitive trichothiodystrophy
|
|
physical urticaria
|
|
phytanoyl-CoA hydroxylase deficiency
|
|
pidermolysis bullosa simplex 5A, Ogna type
|
|
pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
|
|
piebaldism
|
|
pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
|
|
pigmented nodular adrenocortical disease, primary, 1
|
|
pigmented nodular adrenocortical disease, primary, 2
|
|
pigmented nodular adrenocortical disease, primary, 3
|
|
pigmented nodular adrenocortical disease, primary, 4
|
|
pigmented paravenous retinochoroidal atrophy
|
|
pili torti-developmental delay-neurological abnormalities syndrome
|
|
pilocytic astrocytoma
|
|
pilomatrixoma
|
|
pilomyxoid astrocytoma
|
|
pineal body neoplasm
|
|
pineal gland cancer
|
|
pineoblastoma
|
|
pituitary adenocarcinoma
|
|
pituitary adenoma 3, multiple types
|
|
pituitary adenoma 5, multiple types
|
|
pituitary adenoma, growth hormone-secreting, 2
|
|
pituitary cancer
|
|
pituitary deficiency
|
|
pituitary dwarfism
|
|
pituitary gland adenoma
|
|
pituitary gland disorder
|
|
pituitary hormone deficiency, combined or isolated, 8
|
|
pituitary hormone deficiency, combined, 1
|
|
pituitary hormone deficiency, combined, 2
|
|
pituitary hormone deficiency, combined, 6
|
|
pituitary stalk interruption syndrome
|
|
pituitary tumor
|
|
pityriasis rubra pilaris
|
|
placenta disorder
|
|
placenta neoplasm
|
|
plasma cell myeloma
|
|
plasma cell neoplasm
|
|
plasma fibronectin deficiency
|
|
plasma protein metabolism disease
|
|
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
|
|
platelet storage pool deficiency
|
|
platelet-activating factor acetylhydrolase deficiency
|
|
platelet-type bleeding disorder 10
|
|
platelet-type bleeding disorder 11
|
|
platelet-type bleeding disorder 14
|
|
platelet-type bleeding disorder 15
|
|
platelet-type bleeding disorder 16
|
|
platelet-type bleeding disorder 17
|
|
platelet-type bleeding disorder 18
|
|
platelet-type bleeding disorder 19
|
|
platelet-type bleeding disorder 20
|
|
platelet-type bleeding disorder 8
|
|
platelet-type bleeding disorder 9
|
|
platelet-type von Willebrand disease
|
|
platyspondylic dysplasia, Torrance type
|
|
pleomorphic xanthoastrocytoma
|
|
pleural disorder
|
|
pleuropulmonary blastoma
|
|
plexiform neurofibroma
|
|
pneumonia
|
|
pneumonitis
|
|
pneumothorax
|
|
poikiloderma with neutropenia
|
|
poisoning
|
|
polyarteritis nodosa
|
|
polycystic kidney disease
|
|
polycystic kidney disease 1
|
|
polycystic kidney disease 2
|
|
polycystic kidney disease 3 with or without polycystic liver disease
|
|
polycystic kidney disease 4
|
|
polycystic kidney disease 5
|
|
polycystic kidney disease 6 with or without polycystic liver disease
|
|
polycystic kidney disease 7
|
|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
|
|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
|
|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
|
|
polycystic liver disease 1
|
|
polycystic liver disease 2
|
|
polycystic liver disease 3 with or without kidney cysts
|
|
polycystic liver disease 4 with or without kidney cysts
|
|
polycythemia
|
|
polydactyly
|
|
polydactyly of a biphalangeal thumb
|
|
polydactyly of a triphalangeal thumb
|
|
polydactyly, postaxial, type A1
|
|
polydactyly, postaxial, type A6
|
|
polydactyly, postaxial, type A8
|
|
polydactyly, postaxial, type A9
|
|
polydactyly, postaxial, type a10
|
|
polydactyly, postaxial, type a7
|
|
polydactyly-macrocephaly syndrome
|
|
polydactyly-syndactyly-triphalangism
|
|
polyendocrine-polyneuropathy syndrome
|
|
polyendocrinopathy
|
|
polyglucosan body myopathy
|
|
polyglucosan body myopathy 1 with or without immunodeficiency
|
|
polyglucosan body myopathy type 2
|
|
polyhydramnios
|
|
polyhydramnios, megalencephaly, and symptomatic epilepsy
|
|
polymicrogyria
|
|
polymicrogyria with optic nerve hypoplasia
|
|
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
|
|
polymicrogyria, bilateral perisylvian, X-linked
|
|
polymicrogyria, bilateral perisylvian, autosomal recessive
|
|
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
|
|
polymorphic ventricular tachycardia
|
|
polyneuropathy
|
|
polyp
|
|
polyp of colon
|
|
polyp of large intestine
|
|
polyposis
|
|
polyposis syndrome, hereditary mixed, 1
|
|
polyposis syndrome, hereditary mixed, 2
|
|
polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
|
|
polysubstance abuse, susceptibility to
|
|
polysyndactyly 4
|
|
polyvalvular heart disease syndrome
|
|
pontocerebellar hypoplasia
|
|
pontocerebellar hypoplasia type 1
|
|
pontocerebellar hypoplasia type 10
|
|
pontocerebellar hypoplasia type 1A
|
|
pontocerebellar hypoplasia type 1B
|
|
pontocerebellar hypoplasia type 2
|
|
pontocerebellar hypoplasia type 2A
|
|
pontocerebellar hypoplasia type 2B
|
|
pontocerebellar hypoplasia type 2C
|
|
pontocerebellar hypoplasia type 2D
|
|
pontocerebellar hypoplasia type 2E
|
|
pontocerebellar hypoplasia type 3
|
|
pontocerebellar hypoplasia type 4
|
|
pontocerebellar hypoplasia type 5
|
|
pontocerebellar hypoplasia type 6
|
|
pontocerebellar hypoplasia type 7
|
|
pontocerebellar hypoplasia type 8
|
|
pontocerebellar hypoplasia type 9
|
|
pontocerebellar hypoplasia, IIA 17
|
|
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
|
|
pontocerebellar hypoplasia, type 11
|
|
pontocerebellar hypoplasia, type 12
|
|
pontocerebellar hypoplasia, type 13
|
|
pontocerebellar hypoplasia, type 14
|
|
pontocerebellar hypoplasia, type 15
|
|
pontocerebellar hypoplasia, type 16
|
|
pontocerebellar hypoplasia, type 1C
|
|
pontocerebellar hypoplasia, type 1D
|
|
pontocerebellar hypoplasia, type 1E
|
|
pontocerebellar hypoplasia, type 1F
|
|
pontocerebellar hypoplasia, type 2F
|
|
popliteal pterygium syndrome
|
|
porencephaly
|
|
porencephaly 2
|
|
porencephaly-microcephaly-bilateral congenital cataract syndrome
|
|
porokeratosis
|
|
porokeratosis 1, Mibelli type
|
|
porokeratosis 3, disseminated superficial actinic type
|
|
porokeratosis 7, multiple types
|
|
porokeratosis 8, disseminated superficial actinic type
|
|
porokeratosis 9, multiple types
|
|
porokeratosis of Mibelli
|
|
porphyria
|
|
porphyria cutanea tarda
|
|
porphyria due to ALA dehydratase deficiency
|
|
porphyrin metabolism disease
|
|
portal hypertension
|
|
portal hypertension, noncirrhotic
|
|
portal hypertension, noncirrhotic, 1
|
|
portal hypertension, noncirrhotic, 2
|
|
post-COVID-19 disorder
|
|
post-infectious disorder
|
|
post-traumatic stress disorder
|
|
post-viral disorder
|
|
postaxial acrofacial dysostosis
|
|
postaxial polydactyly
|
|
postaxial polydactyly type A
|
|
postaxial polydactyly type B
|
|
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
|
|
posterior column ataxia-retinitis pigmentosa syndrome
|
|
posterior corneal dystrophy
|
|
posterior polymorphous corneal dystrophy
|
|
posterior polymorphous corneal dystrophy 1
|
|
posterior polymorphous corneal dystrophy 2
|
|
posterior polymorphous corneal dystrophy 3
|
|
posterior uveitis
|
|
postlingual non-syndromic genetic hearing loss
|
|
postmenopausal osteoporosis
|
|
postsynaptic congenital myasthenic syndrome
|
|
postural orthostatic tachycardia syndrome
|
|
potassium deficiency disease
|
|
potassium-aggravated myotonia
|
|
preaxial polydactyly of fingers
|
|
precancerous condition
|
|
precocious puberty
|
|
precocious puberty in female
|
|
precocious puberty, central, 2
|
|
precursor B-cell acute lymphoblastic leukemia
|
|
precursor T-lymphoblastic lymphoma/leukemia
|
|
precursor lymphoblastic lymphoma/leukemia
|
|
predisposition to invasive fungal disease due to CARD9 deficiency
|
|
preeclampsia
|
|
preeclampsia/eclampsia 1
|
|
preeclampsia/eclampsia 4
|
|
preeclampsia/eclampsia 5
|
|
pregnancy disorder
|
|
pregnancy loss, recurrent, susceptibility
|
|
pregnancy loss, recurrent, susceptibility to, 1
|
|
pregnancy loss, recurrent, susceptibility to, 2
|
|
pregnancy loss, recurrent, susceptibility to, 3
|
|
prekallikrein deficiency
|
|
prelingual non-syndromic genetic hearing loss
|
|
premalignant hematological system disease
|
|
premature aging syndrome
|
|
premature chromatid separation trait
|
|
premature menopause
|
|
premature ovarian failure 1
|
|
premature ovarian failure 10
|
|
premature ovarian failure 11
|
|
premature ovarian failure 12
|
|
premature ovarian failure 13
|
|
premature ovarian failure 14
|
|
premature ovarian failure 15
|
|
premature ovarian failure 16
|
|
premature ovarian failure 17
|
|
premature ovarian failure 18
|
|
premature ovarian failure 19
|
|
premature ovarian failure 20
|
|
premature ovarian failure 21
|
|
premature ovarian failure 22
|
|
premature ovarian failure 23
|
|
premature ovarian failure 2A
|
|
premature ovarian failure 2B
|
|
premature ovarian failure 3
|
|
premature ovarian failure 4
|
|
premature ovarian failure 5
|
|
premature ovarian failure 6
|
|
premature ovarian failure 7
|
|
premature ovarian failure 8
|
|
premature ovarian failure 9
|
|
prenatal-onset spinal muscular atrophy with congenital bone fractures
|
|
preterm premature rupture of the membranes
|
|
pretibial dystrophic epidermolysis bullosa
|
|
primary CD59 deficiency
|
|
primary Fanconi syndrome
|
|
primary acquired red cell aplasia
|
|
primary adrenal insufficiency
|
|
primary aldosteronism
|
|
primary avascular necrosis
|
|
primary bacterial infectious disease
|
|
primary biliary cholangitis
|
|
primary biliary cholangitis 1
|
|
primary ciliary dyskinesia
|
|
primary ciliary dyskinesia 1
|
|
primary ciliary dyskinesia 10
|
|
primary ciliary dyskinesia 11
|
|
primary ciliary dyskinesia 12
|
|
primary ciliary dyskinesia 13
|
|
primary ciliary dyskinesia 14
|
|
primary ciliary dyskinesia 15
|
|
primary ciliary dyskinesia 16
|
|
primary ciliary dyskinesia 17
|
|
primary ciliary dyskinesia 18
|
|
primary ciliary dyskinesia 19
|
|
primary ciliary dyskinesia 2
|
|
primary ciliary dyskinesia 20
|
|
primary ciliary dyskinesia 21
|
|
primary ciliary dyskinesia 22
|
|
primary ciliary dyskinesia 23
|
|
primary ciliary dyskinesia 24
|
|
primary ciliary dyskinesia 25
|
|
primary ciliary dyskinesia 26
|
|
primary ciliary dyskinesia 27
|
|
primary ciliary dyskinesia 28
|
|
primary ciliary dyskinesia 29
|
|
primary ciliary dyskinesia 3
|
|
primary ciliary dyskinesia 30
|
|
primary ciliary dyskinesia 32
|
|
primary ciliary dyskinesia 33
|
|
primary ciliary dyskinesia 34
|
|
primary ciliary dyskinesia 35
|
|
primary ciliary dyskinesia 5
|
|
primary ciliary dyskinesia 6
|
|
primary ciliary dyskinesia 7
|
|
primary ciliary dyskinesia 9
|
|
primary coenzyme Q10 deficiency 8
|
|
primary congenital glaucoma
|
|
primary cutaneous T-cell lymphoma
|
|
primary cutaneous T-cell non-Hodgkin lymphoma
|
|
primary cutaneous amyloidosis
|
|
primary cutaneous lymphoma
|
|
primary erythermalgia
|
|
primary failure of tooth eruption
|
|
primary familial polycythemia due to EPO receptor mutation
|
|
primary hyperoxaluria
|
|
primary hyperoxaluria type 1
|
|
primary hyperoxaluria type 2
|
|
primary hyperoxaluria type 3
|
|
primary hyperparathyroidism
|
|
primary hypertrophic osteoarthropathy
|
|
primary immunodeficiency syndrome due to p14 deficiency
|
|
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
|
|
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
|
|
primary interstitial lung disease specific to childhood
|
|
primary intraosseous venous malformation
|
|
primary lymphedema
|
|
primary membranoproliferative glomerulonephritis
|
|
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
|
|
primary myelofibrosis
|
|
primary optic atrophy
|
|
primary organ-specific lymphoma
|
|
primary orthostatic hypotension
|
|
primary osteolysis
|
|
primary ovarian failure
|
|
primary peritoneal carcinoma
|
|
primary pigmented nodular adrenocortical disease
|
|
primary polyarteritis nodosa
|
|
primary progressive aphasia
|
|
primary progressive multiple sclerosis
|
|
primary pulmonary hypertension
|
|
primary thrombocytopenia
|
|
primary viral infectious disease
|
|
primitive neuroectodermal tumor
|
|
primordial dwarfism and slender bone disorder
|
|
primordial dwarfism-immunodeficiency-lipodystrophy syndrome
|
|
prion disease
|
|
progeria
|
|
progeroid and marfanoid aspect-lipodystrophy syndrome
|
|
progeroid features-hepatocellular carcinoma predisposition syndrome
|
|
progeroid syndrome
|
|
progesterone-receptor negative breast cancer
|
|
progressive bifocal chorioretinal atrophy
|
|
progressive bulbar palsy
|
|
progressive bulbar palsy of childhood
|
|
progressive deafness with stapes fixation
|
|
progressive demyelinating neuropathy with bilateral striatal necrosis
|
|
progressive encephalopathy with leukodystrophy due to DECR deficiency
|
|
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
|
|
progressive external ophthalmoplegia
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
|
|
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
|
|
progressive familial heart block
|
|
progressive familial heart block type IB
|
|
progressive familial heart block, type 1A
|
|
progressive familial intrahepatic cholestasis
|
|
progressive familial intrahepatic cholestasis type 1
|
|
progressive familial intrahepatic cholestasis type 2
|
|
progressive familial intrahepatic cholestasis type 3
|
|
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
|
|
progressive muscular atrophy
|
|
progressive muscular dystrophy
|
|
progressive myoclonic epilepsy type 3
|
|
progressive myoclonic epilepsy type 6
|
|
progressive myoclonic epilepsy type 7
|
|
progressive myoclonic epilepsy type 8
|
|
progressive myoclonic epilepsy type 9
|
|
progressive myoclonic epilepsy with dystonia
|
|
progressive myoclonus epilepsy
|
|
progressive non-fluent aphasia
|
|
progressive osseous heteroplasia
|
|
progressive pseudorheumatoid arthropathy of childhood
|
|
progressive retinal dystrophy due to retinol transport defect
|
|
progressive scapulohumeroperoneal distal myopathy
|
|
progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
|
|
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
|
|
progressive supranuclear palsy
|
|
progressive supranuclear palsy-parkinsonism syndrome
|
|
prolactin producing pituitary tumor
|
|
prolactin-producing pituitary gland adenoma
|
|
prolidase deficiency
|
|
proliferative glomerulonephritis
|
|
proliferative vitreoretinopathy
|
|
prolonged electroretinal response suppression 2
|
|
prolymphocytic leukemia
|
|
properdin deficiency, X-linked
|
|
propionic acidemia
|
|
prostate adenocarcinoma
|
|
prostate cancer
|
|
prostate cancer, hereditary, 1
|
|
prostate cancer, hereditary, 12
|
|
prostate cancer, hereditary, 13
|
|
prostate cancer, hereditary, 2
|
|
prostate cancer, hereditary, 9
|
|
prostate cancer/brain cancer susceptibility
|
|
prostate carcinoma
|
|
prostate disorder
|
|
prostate neoplasm
|
|
proteasome-associated autoinflammatory syndrome 1
|
|
proteasome-associated autoinflammatory syndrome 2
|
|
proteasome-associated autoinflammatory syndrome 3
|
|
proteasome-associated autoinflammatory syndrome 4
|
|
proteasome-associated autoinflammatory syndrome 5
|
|
protein S deficiency
|
|
protein Z deficiency
|
|
protein-losing enteropathy
|
|
proteinuria
|
|
proteinuria, chronic benign
|
|
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
|
|
proteosome-associated autoinflammatory syndrome
|
|
proteostasis deficiencies
|
|
prothrombin deficiency
|
|
protoporphyria, erythropoietic, 1
|
|
protoporphyria, erythropoietic, 2
|
|
protozoa infectious disease
|
|
proximal 16p11.2 microdeletion syndrome
|
|
proximal myopathy with extrapyramidal signs
|
|
proximal renal tubular acidosis
|
|
proximal spinal muscular atrophy
|
|
proximal symphalangism
|
|
proximal symphalangism 1A
|
|
prune belly syndrome
|
|
pseudo-TORCH syndrome
|
|
pseudo-TORCH syndrome 1
|
|
pseudo-TORCH syndrome 2
|
|
pseudo-TORCH syndrome 3
|
|
pseudoachondroplasia
|
|
pseudohermaphroditism
|
|
pseudohyperaldosteronism type 2
|
|
pseudohypoaldosteronism
|
|
pseudohypoaldosteronism type 1
|
|
pseudohypoaldosteronism type 2
|
|
pseudohypoaldosteronism type 2A
|
|
pseudohypoaldosteronism type 2B
|
|
pseudohypoaldosteronism type 2C
|
|
pseudohypoaldosteronism type 2D
|
|
pseudohypoaldosteronism type 2E
|
|
pseudohypoaldosteronism, type IB2, autosomal recessive
|
|
pseudohypoaldosteronism, type IB3, autosomal recessive
|
|
pseudohypoparathyroidism
|
|
pseudohypoparathyroidism type 1A
|
|
pseudohypoparathyroidism type 1B
|
|
pseudohypoparathyroidism type 1C
|
|
pseudopseudohypoparathyroidism
|
|
pseudoxanthoma elasticum (inherited or acquired)
|
|
pseudoxanthoma elasticum, forme fruste
|
|
psoriasis
|
|
psoriasis 1, susceptibility to
|
|
psoriasis 13, susceptibility to
|
|
psoriasis 14, pustular
|
|
psoriasis 15, pustular, susceptibility to
|
|
psoriasis 2
|
|
psoriasis 7, susceptibility to
|
|
psoriasis, susceptibility to
|
|
psoriatic arthritis, susceptibility to
|
|
psychiatric disorder
|
|
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
|
|
psychomotor retardation, epilepsy, and craniofacial dysmorphism
|
|
psychotic disorder
|
|
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
|
|
ptosis
|
|
ptosis, hereditary congenital, 1
|
|
pulmonary alveolar microlithiasis
|
|
pulmonary alveolar proteinosis
|
|
pulmonary alveolar proteinosis with hypogammaglobulinemia
|
|
pulmonary arterial hypertension
|
|
pulmonary atresia with ventricular septal defect
|
|
pulmonary atresia-intact ventricular septum syndrome
|
|
pulmonary blastoma
|
|
pulmonary disease, chronic obstructive, susceptibility to
|
|
pulmonary embolism
|
|
pulmonary fibrosis
|
|
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
|
|
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
|
|
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
|
|
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
|
|
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
|
|
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
|
|
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
|
|
pulmonary fibrosis and/or bone marrow failure, telomere-related
|
|
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
|
|
pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
|
|
pulmonary hypertension
|
|
pulmonary hypertension, neonatal, susceptibility to
|
|
pulmonary hypertension, primary, 1
|
|
pulmonary hypertension, primary, 2
|
|
pulmonary hypertension, primary, 3
|
|
pulmonary hypertension, primary, 4
|
|
pulmonary hypertension, primary, autosomal recessive
|
|
pulmonary hypoplasia
|
|
pulmonary venoocclusive disease
|
|
pulmonary venoocclusive disease 1
|
|
pulmonary venoocclusive disease 2
|
|
pulmonic stenosis
|
|
pulverulent cataract
|
|
punctate palmoplantar keratoderma
|
|
punctate palmoplantar keratoderma type 1
|
|
punctate palmoplantar keratoderma type 2
|
|
pure hair and nail ectodermal dysplasia
|
|
pure hereditary spastic paraplegia
|
|
pure red-cell aplasia
|
|
purine metabolism disease
|
|
purine nucleoside phosphorylase deficiency
|
|
purpura
|
|
pustular psoriasis
|
|
pycnodysostosis
|
|
pyloric stenosis
|
|
pyloric stenosis, infantile hypertrophic, 1
|
|
pyloric stenosis, infantile hypertrophic, 5
|
|
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
|
|
pyogenic bacterial infections due to MyD88 deficiency
|
|
pyogenic granuloma
|
|
pyridoxal phosphate-responsive seizures
|
|
pyridoxine-dependent epilepsy
|
|
pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
|
|
pyrimidine metabolism disease
|
|
pyropoikilocytosis, hereditary
|
|
pyruvate carboxylase deficiency disease
|
|
pyruvate dehydrogenase E1-alpha deficiency
|
|
pyruvate dehydrogenase E1-beta deficiency
|
|
pyruvate dehydrogenase E2 deficiency
|
|
pyruvate dehydrogenase E3 deficiency
|
|
pyruvate dehydrogenase E3-binding protein deficiency
|
|
pyruvate dehydrogenase deficiency
|
|
pyruvate dehydrogenase phosphatase deficiency
|
|
pyruvate kinase deficiency of red cells
|
|
pyruvate kinase hyperactivity
|
|
pyruvate metabolism disorder
|
|
qualitative or quantitative defects of FKRP
|
|
qualitative or quantitative defects of TRIM32
|
|
qualitative or quantitative defects of alpha-actin
|
|
qualitative or quantitative defects of alpha-dystroglycan
|
|
qualitative or quantitative defects of alpha-sarcoglycan
|
|
qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
|
|
qualitative or quantitative defects of beta-sarcoglycan
|
|
qualitative or quantitative defects of delta-sarcoglycan
|
|
qualitative or quantitative defects of desmin
|
|
qualitative or quantitative defects of dysferlin
|
|
qualitative or quantitative defects of dystrophin
|
|
qualitative or quantitative defects of filamin C
|
|
qualitative or quantitative defects of gamma-sarcoglycan
|
|
qualitative or quantitative defects of myofibrillar proteins
|
|
qualitative or quantitative defects of nebulin
|
|
qualitative or quantitative defects of perlecan
|
|
qualitative or quantitative defects of plectin
|
|
qualitative or quantitative defects of protein O-mannosyltransferase 1
|
|
qualitative or quantitative defects of protein O-mannosyltransferase 2
|
|
qualitative or quantitative defects of protein SERCA1
|
|
qualitative or quantitative defects of protein ZASP
|
|
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
|
|
qualitative or quantitative defects of selenoprotein N1
|
|
qualitative or quantitative defects of telethonin
|
|
qualitative or quantitative defects of titin
|
|
qualitative or quantitative defects of tropomyosin
|
|
qualitative or quantitative protein defects in neuromuscular diseases
|
|
question mark ears, isolated
|
|
radiation-induced disorder
|
|
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
|
|
radioulnar synostosis with amegakaryocytic thrombocytopenia 1
|
|
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
|
|
radioulnar synostosis, nonsyndromic, susceptibility to
|
|
radioulnar synostosis-microcephaly-scoliosis syndrome
|
|
rapadilino syndrome
|
|
reactive cutaneous fibrous lesion
|
|
reading disorder
|
|
recessive X-linked ichthyosis
|
|
recessive dystrophic epidermolysis bullosa
|
|
recessive dystrophic epidermolysis bullosa inversa
|
|
recombinase activating gene 1 deficiency
|
|
recombinase activating gene 2 deficiency
|
|
rectal cancer
|
|
rectal carcinoma
|
|
rectal disorder
|
|
rectal neoplasm
|
|
rectal prolapse
|
|
rectum adenocarcinoma
|
|
recurrent Neisseria infections due to factor D deficiency
|
|
recurrent hypersomnia
|
|
recurrent infections associated with rare immunoglobulin isotypes deficiency
|
|
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
|
|
red color blindness
|
|
red-green color blindness
|
|
reducing body myopathy
|
|
reflex epilepsy
|
|
refractive error
|
|
regressive spondylometaphyseal dysplasia
|
|
relapsing-remitting multiple sclerosis
|
|
renal agenesis
|
|
renal agenesis, unilateral
|
|
renal carcinoma
|
|
renal cell adenocarcinoma
|
|
renal cell carcinoma
|
|
renal cell carcinoma, Xp11-associated
|
|
renal coloboma syndrome
|
|
renal cysts and diabetes syndrome
|
|
renal dysplasia
|
|
renal dysplasia, cystic, susceptibility to
|
|
renal hypertension
|
|
renal hypodysplasia/aplasia 1
|
|
renal hypodysplasia/aplasia 2
|
|
renal hypodysplasia/aplasia 3
|
|
renal hypodysplasia/aplasia 4
|
|
renal hypomagnesemia 2
|
|
renal hypomagnesemia 3
|
|
renal hypomagnesemia 4
|
|
renal hypomagnesemia 5 with ocular involvement
|
|
renal hypomagnesemia 6
|
|
renal hypoplasia
|
|
renal tubular acidosis
|
|
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
|
|
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
|
|
renal tubular acidosis, distal, 4, with hemolytic anemia
|
|
renal tubular dysgenesis
|
|
renal tubular dysgenesis of genetic origin
|
|
renal tubular transport disease
|
|
renal tubule disorder
|
|
renal tubulopathy-encephalopathy-liver failure syndrome
|
|
renal-hepatic-pancreatic dysplasia
|
|
renal-hepatic-pancreatic dysplasia 1
|
|
renal-hepatic-pancreatic dysplasia 2
|
|
renin-angiotensin-aldosterone system-blocker-induced angioedema
|
|
renovascular hypertension
|
|
reproductive system cancer
|
|
reproductive system disorder
|
|
reproductive system neoplasm
|
|
respiratory failure
|
|
respiratory infections, recurrent, and failure to thrive with or without diarrhea
|
|
respiratory or thoracic malformation
|
|
respiratory papillomatosis, juvenile recurrent, congenital
|
|
respiratory system cancer
|
|
respiratory system disorder
|
|
respiratory tract infectious disorder
|
|
respiratory tract neoplasm
|
|
restrictive cardiomyopathy
|
|
restrictive dermopathy
|
|
restrictive dermopathy 2
|
|
reticular dysgenesis
|
|
reticular dystrophy of the retinal pigment epithelium
|
|
reticulate acropigmentation of Kitamura
|
|
reticulate pigment disorder
|
|
retina neoplasm
|
|
retinal arterial tortuosity
|
|
retinal cancer
|
|
retinal cell cancer
|
|
retinal cell neoplasm
|
|
retinal ciliopathy
|
|
retinal cone dystrophy 3A
|
|
retinal cone dystrophy 4
|
|
retinal degeneration
|
|
retinal detachment
|
|
retinal disorder
|
|
retinal drusen
|
|
retinal dystrophies primarily involving Bruch's membrane
|
|
retinal dystrophy and microvillus inclusion disease
|
|
retinal dystrophy and obesity
|
|
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
|
|
retinal dystrophy with leukodystrophy
|
|
retinal dystrophy with or without macular staphyloma
|
|
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
|
|
retinal edema
|
|
retinal hemangioblastoma
|
|
retinal lattice degeneration
|
|
retinal macular dystrophy type 2
|
|
retinal telangiectasia
|
|
retinal vascular disorder
|
|
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
|
|
retinitis
|
|
retinitis pigmentosa
|
|
retinitis pigmentosa 1
|
|
retinitis pigmentosa 10
|
|
retinitis pigmentosa 11
|
|
retinitis pigmentosa 12
|
|
retinitis pigmentosa 13
|
|
retinitis pigmentosa 14
|
|
retinitis pigmentosa 17
|
|
retinitis pigmentosa 18
|
|
retinitis pigmentosa 19
|
|
retinitis pigmentosa 2
|
|
retinitis pigmentosa 20
|
|
retinitis pigmentosa 23
|
|
retinitis pigmentosa 25
|
|
retinitis pigmentosa 26
|
|
retinitis pigmentosa 27
|
|
retinitis pigmentosa 28
|
|
retinitis pigmentosa 3
|
|
retinitis pigmentosa 30
|
|
retinitis pigmentosa 31
|
|
retinitis pigmentosa 32
|
|
retinitis pigmentosa 33
|
|
retinitis pigmentosa 35
|
|
retinitis pigmentosa 36
|
|
retinitis pigmentosa 37
|
|
retinitis pigmentosa 38
|
|
retinitis pigmentosa 39
|
|
retinitis pigmentosa 4
|
|
retinitis pigmentosa 40
|
|
retinitis pigmentosa 41
|
|
retinitis pigmentosa 42
|
|
retinitis pigmentosa 43
|
|
retinitis pigmentosa 44
|
|
retinitis pigmentosa 45
|
|
retinitis pigmentosa 46
|
|
retinitis pigmentosa 47
|
|
retinitis pigmentosa 48
|
|
retinitis pigmentosa 49
|
|
retinitis pigmentosa 50
|
|
retinitis pigmentosa 51
|
|
retinitis pigmentosa 53
|
|
retinitis pigmentosa 54
|
|
retinitis pigmentosa 55
|
|
retinitis pigmentosa 56
|
|
retinitis pigmentosa 57
|
|
retinitis pigmentosa 58
|
|
retinitis pigmentosa 59
|
|
retinitis pigmentosa 6
|
|
retinitis pigmentosa 60
|
|
retinitis pigmentosa 61
|
|
retinitis pigmentosa 62
|
|
retinitis pigmentosa 64
|
|
retinitis pigmentosa 65
|
|
retinitis pigmentosa 66
|
|
retinitis pigmentosa 67
|
|
retinitis pigmentosa 68
|
|
retinitis pigmentosa 69
|
|
retinitis pigmentosa 7
|
|
retinitis pigmentosa 70
|
|
retinitis pigmentosa 71
|
|
retinitis pigmentosa 72
|
|
retinitis pigmentosa 73
|
|
retinitis pigmentosa 74
|
|
retinitis pigmentosa 75
|
|
retinitis pigmentosa 76
|
|
retinitis pigmentosa 77
|
|
retinitis pigmentosa 78
|
|
retinitis pigmentosa 79
|
|
retinitis pigmentosa 80
|
|
retinitis pigmentosa 81
|
|
retinitis pigmentosa 83
|
|
retinitis pigmentosa 84
|
|
retinitis pigmentosa 85
|
|
retinitis pigmentosa 86
|
|
retinitis pigmentosa 87 with choroidal involvement
|
|
retinitis pigmentosa 88
|
|
retinitis pigmentosa 89
|
|
retinitis pigmentosa 9
|
|
retinitis pigmentosa 90
|
|
retinitis pigmentosa 92
|
|
retinitis pigmentosa 93
|
|
retinitis pigmentosa 94, variable age at onset
|
|
retinitis pigmentosa 95
|
|
retinitis pigmentosa 97
|
|
retinitis pigmentosa and erythrocytic microcytosis
|
|
retinitis pigmentosa with or without situs inversus
|
|
retinitis pigmentosa-deafness syndrome
|
|
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
|
|
retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
|
|
retinitis punctata albescens
|
|
retinoblastoma
|
|
retinopathy of prematurity
|
|
retinoschisis
|
|
retroperitoneal cancer
|
|
retroperitoneal neoplasm
|
|
retroperitoneum carcinoma
|
|
rhabdoid tumor
|
|
rhabdoid tumor predisposition syndrome 1
|
|
rhabdoid tumor predisposition syndrome 2
|
|
rhabdomyolysis, susceptibility to, 1
|
|
rhabdomyoma
|
|
rhabdomyosarcoma
|
|
rhabdomyosarcoma, embryonal, 2
|
|
rhegmatogenous retinal detachment
|
|
rheumatic disorder
|
|
rheumatic heart disease
|
|
rheumatoid arthritis
|
|
rhizomelic chondrodysplasia punctata
|
|
rhizomelic chondrodysplasia punctata type 1
|
|
rhizomelic chondrodysplasia punctata type 2
|
|
rhizomelic chondrodysplasia punctata type 3
|
|
rhizomelic chondrodysplasia punctata type 5
|
|
rhizomelic dysplasia, Ain-Naz type
|
|
rhizomelic limb shortening with dysmorphic features
|
|
riboflavin transporter deficiency
|
|
ribose-5-P isomerase deficiency
|
|
rickets
|
|
right aortic arch
|
|
right atrial isomerism
|
|
rigid spine muscular dystrophy 1
|
|
rigid spine syndrome
|
|
ring chromosome 7
|
|
ring chromosome disorder
|
|
ring dermoid of cornea
|
|
rippling muscle disease
|
|
rippling muscle disease 2
|
|
robinow syndrome, autosomal recessive 2
|
|
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
|
|
rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
|
|
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
|
|
rolandic epilepsy-speech dyspraxia syndrome
|
|
rosette-forming glioneuronal tumor of fourth ventricule
|
|
saccharopinuria
|
|
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
|
|
salivary gland disorder
|
|
sandestig-stefanova syndrome
|
|
sarcoglycanopathy
|
|
sarcoidosis
|
|
sarcoidosis, susceptibility to, 1
|
|
sarcoidosis, susceptibility to, 2
|
|
sarcoma
|
|
sarcomatoid carcinoma
|
|
sarcosinemia
|
|
scalp-ear-nipple syndrome
|
|
scapuloperoneal myopathy
|
|
scapuloperoneal spinal muscular atrophy, autosomal dominant
|
|
schizencephaly
|
|
schizophrenia
|
|
schizophrenia 15
|
|
schizophrenia 17
|
|
schizophrenia 18
|
|
schizophrenia 19
|
|
schizophrenia 4
|
|
schizophrenia 9
|
|
schizophrenia, susceptibility to
|
|
schneckenbecken dysplasia
|
|
schwannoma
|
|
schwannomatosis
|
|
schwannomatosis 1
|
|
schwannomatosis 2
|
|
scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities
|
|
scimitar syndrome
|
|
sclerocornea
|
|
scleroderma
|
|
sclerosing cholangitis
|
|
sclerosteosis
|
|
sclerosteosis 1
|
|
sclerosteosis 2
|
|
scoliosis
|
|
scoliosis, isolated, susceptibility to, 1
|
|
scoliosis, isolated, susceptibility to, 3
|
|
scrotal disorder
|
|
sea-blue histiocyte syndrome
|
|
sebaceous gland disorder
|
|
sebocystomatosis
|
|
seborrhea-like dermatitis with psoriasiform elements
|
|
seborrheic keratosis
|
|
secondary avascular necrosis
|
|
secondary hypertension
|
|
secondary polycythemia
|
|
secretory diarrhea
|
|
segmental dystonia
|
|
seizures, benign familial infantile, 2
|
|
seizures, benign familial infantile, 3
|
|
seizures, benign familial infantile, 5
|
|
seizures, benign familial neonatal, 1
|
|
seizures, benign familial neonatal, 2
|
|
seizures, early-onset, with neurodegeneration and brain calcifications
|
|
seizures-scoliosis-macrocephaly syndrome
|
|
selective IgA deficiency disease
|
|
selective immunoglobulin deficiency disease
|
|
selective pituitary resistance to thyroid hormone
|
|
self-healing collodion baby
|
|
self-limited familial infantile epilepsy
|
|
sella turcica neoplasm
|
|
semantic dementia
|
|
seminoma
|
|
senile cataract
|
|
senior-loken syndrome 3
|
|
sensorineural hearing loss disorder
|
|
sensory ataxia
|
|
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
|
sensory organ benign neoplasm
|
|
sensory peripheral neuropathy
|
|
sensory system cancer
|
|
septooptic dysplasia
|
|
serositis
|
|
serous adenocarcinoma
|
|
serous cystadenocarcinoma
|
|
serous neoplasm
|
|
serpinopathy
|
|
sessile serrated polyposis cancer syndrome
|
|
severe X-linked intellectual disability, Gustavson type
|
|
severe X-linked mitochondrial encephalomyopathy
|
|
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
|
|
severe combined immunodeficiency
|
|
severe combined immunodeficiency due to CARD11 deficiency
|
|
severe combined immunodeficiency due to CARMIL2 deficiency
|
|
severe combined immunodeficiency due to CD70 deficiency
|
|
severe combined immunodeficiency due to CORO1A deficiency
|
|
severe combined immunodeficiency due to CTPS1 deficiency
|
|
severe combined immunodeficiency due to DCLRE1C deficiency
|
|
severe combined immunodeficiency due to DNA-PKcs deficiency
|
|
severe combined immunodeficiency due to IKK2 deficiency
|
|
severe combined immunodeficiency due to LAT deficiency
|
|
severe combined immunodeficiency due to LCK deficiency
|
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
|
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
|
severe congenital hypochromic anemia with ringed sideroblasts
|
|
severe congenital nemaline myopathy
|
|
severe congenital neutropenia
|
|
severe dermatitis-multiple allergies-metabolic wasting syndrome
|
|
severe early-childhood-onset retinal dystrophy
|
|
severe early-onset axonal neuropathy due to MFN2 deficiency
|
|
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
|
|
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
|
|
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
|
|
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
|
|
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
|
|
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
|
|
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
|
|
severe intellectual disability-progressive spastic diplegia syndrome
|
|
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
|
|
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
|
|
severe neonatal-onset encephalopathy with microcephaly
|
|
severe neurodegenerative syndrome with lipodystrophy
|
|
severe primary trimethylaminuria
|
|
severe spondylodysplastic dysplasia
|
|
sex chromosome disorder of sex development
|
|
sex cord-stromal tumor
|
|
shone complex
|
|
short QT syndrome
|
|
short QT syndrome 7
|
|
short QT syndrome type 1
|
|
short QT syndrome type 2
|
|
short QT syndrome type 3
|
|
short chain acyl-CoA dehydrogenase deficiency
|
|
short rib dysplasia
|
|
short rib-polydactyly syndrome
|
|
short rib-polydactyly syndrome, Majewski type
|
|
short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
|
|
short stature and microcephaly with genital anomalies
|
|
short stature due to GHSR deficiency
|
|
short stature due to growth hormone qualitative anomaly
|
|
short stature due to partial GHR deficiency
|
|
short stature due to primary acid-labile subunit deficiency
|
|
short stature with microcephaly and distinctive facies
|
|
short stature with nonspecific skeletal abnormalities
|
|
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
|
|
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
|
|
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
|
|
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
|
|
short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
|
|
short stature, microcephaly, and endocrine dysfunction
|
|
short stature, oligodontia, dysmorphic facies, and motor delay
|
|
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
|
|
short stature-advanced bone age-early-onset osteoarthritis syndrome
|
|
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
|
|
short stature-brachydactyly-obesity-global developmental delay syndrome
|
|
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
|
|
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
|
|
short stature-pituitary and cerebellar defects-small sella turcica syndrome
|
|
short-limb skeletal dysplasia with severe combined immunodeficiency
|
|
short-rib thoracic dysplasia 10 with or without polydactyly
|
|
short-rib thoracic dysplasia 11 with or without polydactyly
|
|
short-rib thoracic dysplasia 13 with or without polydactyly
|
|
short-rib thoracic dysplasia 14 with polydactyly
|
|
short-rib thoracic dysplasia 15 with polydactyly
|
|
short-rib thoracic dysplasia 16 with or without polydactyly
|
|
short-rib thoracic dysplasia 17 with or without polydactyly
|
|
short-rib thoracic dysplasia 18 with polydactyly
|
|
short-rib thoracic dysplasia 19 with or without polydactyly
|
|
short-rib thoracic dysplasia 20 with polydactyly
|
|
short-rib thoracic dysplasia 21 without polydactyly
|
|
short-rib thoracic dysplasia 6 with or without polydactyly
|
|
short-rib thoracic dysplasia 7 with or without polydactyly
|
|
short-rib thoracic dysplasia 7/20 with polydactyly, digenic
|
|
short-rib thoracic dysplasia 8 with or without polydactyly
|
|
short-rib thoracic dysplasia 9 with or without polydactyly
|
|
sialidosis
|
|
sialidosis type 1
|
|
sialidosis type 2
|
|
sialuria
|
|
sick sinus syndrome
|
|
sick sinus syndrome 1
|
|
sick sinus syndrome 2, autosomal dominant
|
|
sick sinus syndrome 3, susceptibility to
|
|
sick sinus syndrome 4
|
|
sickle cell anemia
|
|
sickle cell-hemoglobin c disease syndrome
|
|
sideroblastic anemia
|
|
sideroblastic anemia 2
|
|
sideroblastic anemia 3
|
|
sigmoid colon cancer
|
|
sigmoid neoplasm
|
|
silver-russell syndrome 4
|
|
sinoatrial node disorder
|
|
sinoatrial node dysfunction and deafness
|
|
sinus histiocytosis with massive lymphadenopathy
|
|
sinusitis
|
|
sirenomelia
|
|
sitosterolemia
|
|
sitosterolemia 1
|
|
sitosterolemia 2
|
|
situs inversus
|
|
skeletal defects, genital hypoplasia, and intellectual disability
|
|
skeletal dysplasia
|
|
skeletal dysplasia and progressive central nervous system degeneration, lethal
|
|
skeletal dysplasia, mild, with joint laxity and advanced bone age
|
|
skeletal muscle disorder
|
|
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
|
|
skeletal system disorder
|
|
skin appendage carcinoma
|
|
skin appendage disorder
|
|
skin basal cell carcinoma
|
|
skin cancer
|
|
skin carcinoma
|
|
skin creases, congenital symmetric circumferential, 2
|
|
skin disorder
|
|
skin fragility-woolly hair-palmoplantar keratoderma syndrome
|
|
skin hemangioma
|
|
skin neoplasm
|
|
skin pigmentation disorder
|
|
skin squamous cell carcinoma
|
|
skin tag
|
|
skin vascular disease
|
|
skull base meningioma
|
|
skull base neoplasm
|
|
skull cancer
|
|
skull disorder
|
|
skull neoplasm
|
|
sleep apnea syndrome
|
|
sleep disorder
|
|
sleep-related hypermotor epilepsy
|
|
sleep-wake disorder
|
|
small cell carcinoma
|
|
small cell lung carcinoma
|
|
small cell sarcoma
|
|
small intestine adenocarcinoma
|
|
small intestine cancer
|
|
small intestine carcinoma
|
|
small intestine disorder
|
|
small intestine neoplasm
|
|
smooth muscle cancer
|
|
smooth muscle tumor
|
|
snijders blok-fisher syndrome
|
|
snowflake vitreoretinal degeneration
|
|
soft tissue neoplasm
|
|
soft tissue sarcoma
|
|
solitary median maxillary central incisor syndrome
|
|
somatoform disorder
|
|
southeast Asian ovalocytosis
|
|
spastic ataxia
|
|
spastic ataxia 1
|
|
spastic ataxia 10, autosomal recessive
|
|
spastic ataxia 2
|
|
spastic ataxia 3
|
|
spastic ataxia 4
|
|
spastic ataxia 5
|
|
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
|
|
spastic ataxia 9, autosomal recessive
|
|
spastic cerebral palsy
|
|
spastic diplegia
|
|
spastic hemiplegia
|
|
spastic paraparesis-cataracts-speech delay syndrome
|
|
spastic paraplegia 18a, autosomal dominant
|
|
spastic paraplegia 70, autosomal recessive
|
|
spastic paraplegia 72b, autosomal recessive
|
|
spastic paraplegia 79A, autosomal dominant, with ataxia
|
|
spastic paraplegia 80, autosomal dominant
|
|
spastic paraplegia 81, autosomal recessive
|
|
spastic paraplegia 82, autosomal recessive
|
|
spastic paraplegia 83, autosomal recessive
|
|
spastic paraplegia 84, autosomal recessive
|
|
spastic paraplegia 85, autosomal recessive
|
|
spastic paraplegia 86, autosomal recessive
|
|
spastic paraplegia 87, autosomal recessive
|
|
spastic paraplegia 88, autosomal dominant
|
|
spastic paraplegia 89, autosomal recessive
|
|
spastic paraplegia 90A, autosomal dominant
|
|
spastic paraplegia 90B, autosomal recessive
|
|
spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
|
|
spastic paraplegia, intellectual disability, nystagmus, and obesity
|
|
spastic paraplegia, optic atropy, and neuropathy
|
|
spastic paraplegia-Paget disease of bone syndrome
|
|
spastic paraplegia-severe developmental delay-epilepsy syndrome
|
|
spastic quadriplegic cerebral palsy
|
|
spastic tetraplegia and axial hypotonia, progressive
|
|
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
|
|
spasticity-ataxia-gait anomalies syndrome
|
|
specific developmental disorder
|
|
specific granule deficiency
|
|
specific granule deficiency 1
|
|
specific granule deficiency 2
|
|
specific language disorder
|
|
specific language impairment
|
|
specific language impairment 5
|
|
specific learning disability
|
|
speech disorder
|
|
spermatocytic seminoma
|
|
spermatogenic failure
|
|
spermatogenic failure 1
|
|
spermatogenic failure 10
|
|
spermatogenic failure 11
|
|
spermatogenic failure 12
|
|
spermatogenic failure 13
|
|
spermatogenic failure 14
|
|
spermatogenic failure 15
|
|
spermatogenic failure 16
|
|
spermatogenic failure 17
|
|
spermatogenic failure 18
|
|
spermatogenic failure 19
|
|
spermatogenic failure 2
|
|
spermatogenic failure 20
|
|
spermatogenic failure 21
|
|
spermatogenic failure 22
|
|
spermatogenic failure 23
|
|
spermatogenic failure 24
|
|
spermatogenic failure 25
|
|
spermatogenic failure 26
|
|
spermatogenic failure 27
|
|
spermatogenic failure 28
|
|
spermatogenic failure 29
|
|
spermatogenic failure 3
|
|
spermatogenic failure 30
|
|
spermatogenic failure 31
|
|
spermatogenic failure 32
|
|
spermatogenic failure 33
|
|
spermatogenic failure 34
|
|
spermatogenic failure 35
|
|
spermatogenic failure 36
|
|
spermatogenic failure 37
|
|
spermatogenic failure 38
|
|
spermatogenic failure 39
|
|
spermatogenic failure 4
|
|
spermatogenic failure 40
|
|
spermatogenic failure 41
|
|
spermatogenic failure 42
|
|
spermatogenic failure 43
|
|
spermatogenic failure 44
|
|
spermatogenic failure 45
|
|
spermatogenic failure 46
|
|
spermatogenic failure 47
|
|
spermatogenic failure 48
|
|
spermatogenic failure 49
|
|
spermatogenic failure 5
|
|
spermatogenic failure 51
|
|
spermatogenic failure 52
|
|
spermatogenic failure 53
|
|
spermatogenic failure 54
|
|
spermatogenic failure 55
|
|
spermatogenic failure 56
|
|
spermatogenic failure 57
|
|
spermatogenic failure 58
|
|
spermatogenic failure 59
|
|
spermatogenic failure 6
|
|
spermatogenic failure 60
|
|
spermatogenic failure 61
|
|
spermatogenic failure 62
|
|
spermatogenic failure 63
|
|
spermatogenic failure 64
|
|
spermatogenic failure 65
|
|
spermatogenic failure 66
|
|
spermatogenic failure 67
|
|
spermatogenic failure 68
|
|
spermatogenic failure 69
|
|
spermatogenic failure 7
|
|
spermatogenic failure 70
|
|
spermatogenic failure 71
|
|
spermatogenic failure 72
|
|
spermatogenic failure 73
|
|
spermatogenic failure 74
|
|
spermatogenic failure 75
|
|
spermatogenic failure 76
|
|
spermatogenic failure 77
|
|
spermatogenic failure 78
|
|
spermatogenic failure 79
|
|
spermatogenic failure 8
|
|
spermatogenic failure 80
|
|
spermatogenic failure 81
|
|
spermatogenic failure 82
|
|
spermatogenic failure 83
|
|
spermatogenic failure 84
|
|
spermatogenic failure 85
|
|
spermatogenic failure 86
|
|
spermatogenic failure 87
|
|
spermatogenic failure 88
|
|
spermatogenic failure 89
|
|
spermatogenic failure 9
|
|
spermatogenic failure 90
|
|
spermatogenic failure, X-linked, 2
|
|
spermatogenic failure, X-linked, 3
|
|
spermatogenic failure, X-linked, 4
|
|
spermatogenic failure, X-linked, 5
|
|
spermatogenic failure, X-linked, 6
|
|
spermatogenic failure, X-linked, 7
|
|
spermatogenic failure, Y-linked, 1
|
|
spermatogenic failure, Y-linked, 2
|
|
spermatogenic failures 50
|
|
sphingolipidosis
|
|
spina bifida
|
|
spina bifida occulta
|
|
spinal cord cancer
|
|
spinal cord disorder
|
|
spinal cord ependymoma
|
|
spinal cord glioma
|
|
spinal cord neoplasm
|
|
spinal muscular atrophy
|
|
spinal muscular atrophy with congenital bone fractures 1
|
|
spinal muscular atrophy with congenital bone fractures 2
|
|
spinal muscular atrophy, distal, autosomal recessive, 6
|
|
spinal muscular atrophy, facioscapulohumeral type
|
|
spinal muscular atrophy, infantile, James type
|
|
spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
|
|
spinal muscular atrophy, type 1
|
|
spinal muscular atrophy, type II
|
|
spinal muscular atrophy, type III
|
|
spinal muscular atrophy, type IV
|
|
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
|
|
spindle cell neoplasm
|
|
spindle cell sarcoma
|
|
spinocerebellar ataxia 27A
|
|
spinocerebellar ataxia 27B, late-onset
|
|
spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
|
|
spinocerebellar ataxia 43
|
|
spinocerebellar ataxia 44
|
|
spinocerebellar ataxia 45
|
|
spinocerebellar ataxia 46
|
|
spinocerebellar ataxia 47
|
|
spinocerebellar ataxia 48
|
|
spinocerebellar ataxia 49
|
|
spinocerebellar ataxia 50
|
|
spinocerebellar ataxia type 1
|
|
spinocerebellar ataxia type 10
|
|
spinocerebellar ataxia type 11
|
|
spinocerebellar ataxia type 12
|
|
spinocerebellar ataxia type 13
|
|
spinocerebellar ataxia type 14
|
|
spinocerebellar ataxia type 15/16
|
|
spinocerebellar ataxia type 17
|
|
spinocerebellar ataxia type 19/22
|
|
spinocerebellar ataxia type 2
|
|
spinocerebellar ataxia type 21
|
|
spinocerebellar ataxia type 23
|
|
spinocerebellar ataxia type 25
|
|
spinocerebellar ataxia type 26
|
|
spinocerebellar ataxia type 27
|
|
spinocerebellar ataxia type 28
|
|
spinocerebellar ataxia type 29
|
|
spinocerebellar ataxia type 31
|
|
spinocerebellar ataxia type 34
|
|
spinocerebellar ataxia type 35
|
|
spinocerebellar ataxia type 36
|
|
spinocerebellar ataxia type 37
|
|
spinocerebellar ataxia type 38
|
|
spinocerebellar ataxia type 4
|
|
spinocerebellar ataxia type 40
|
|
spinocerebellar ataxia type 41
|
|
spinocerebellar ataxia type 42
|
|
spinocerebellar ataxia type 5
|
|
spinocerebellar ataxia type 6
|
|
spinocerebellar ataxia type 8
|
|
spinocerebellar ataxia with epilepsy
|
|
spinocerebellar ataxia, autosomal recessive 22
|
|
spinocerebellar ataxia, autosomal recessive 23
|
|
spinocerebellar ataxia, autosomal recessive 24
|
|
spinocerebellar ataxia, autosomal recessive 25
|
|
spinocerebellar ataxia, autosomal recessive 26
|
|
spinocerebellar ataxia, autosomal recessive 27
|
|
spinocerebellar ataxia, autosomal recessive 28
|
|
spinocerebellar ataxia, autosomal recessive 29
|
|
spinocerebellar ataxia, autosomal recessive 30
|
|
spinocerebellar ataxia, autosomal recessive 31
|
|
spinocerebellar ataxia, autosomal recessive 32
|
|
spinocerebellar ataxia, autosomal recessive 33
|
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
|
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
|
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
|
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
|
|
spleen neoplasm
|
|
splenic disorder
|
|
split foot
|
|
split hand-foot malformation
|
|
split hand-foot malformation 1
|
|
split hand-foot malformation 1 with sensorineural hearing loss
|
|
split hand-foot malformation 3
|
|
split hand-foot malformation 4
|
|
split hand-foot malformation 5
|
|
split hand-foot malformation 6
|
|
split-foot malformation-mesoaxial polydactyly syndrome
|
|
spondylo-megaepiphyseal-metaphyseal dysplasia
|
|
spondylo-ocular syndrome
|
|
spondyloarthropathy, susceptibility to
|
|
spondyloarthropathy, susceptibility to, 1
|
|
spondylocarpotarsal synostosis syndrome
|
|
spondylocostal dysostosis
|
|
spondylocostal dysostosis 1, autosomal recessive
|
|
spondylocostal dysostosis 2, autosomal recessive
|
|
spondylocostal dysostosis 3, autosomal recessive
|
|
spondylocostal dysostosis 4, autosomal recessive
|
|
spondylocostal dysostosis 5
|
|
spondylocostal dysostosis 6, autosomal recessive
|
|
spondylodysplastic dysplasia
|
|
spondyloepimetaphyseal dysplasia
|
|
spondyloepimetaphyseal dysplasia with joint laxity
|
|
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
|
|
spondyloepimetaphyseal dysplasia with joint laxity, type 3
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
|
spondyloepimetaphyseal dysplasia, Bieganski type
|
|
spondyloepimetaphyseal dysplasia, Genevieve type
|
|
spondyloepimetaphyseal dysplasia, Guo-Campeau type
|
|
spondyloepimetaphyseal dysplasia, Isidor-Toutain type
|
|
spondyloepimetaphyseal dysplasia, Krakow type
|
|
spondyloepimetaphyseal dysplasia, Maroteaux type
|
|
spondyloepimetaphyseal dysplasia, Missouri type
|
|
spondyloepimetaphyseal dysplasia, PAPSS2 type
|
|
spondyloepimetaphyseal dysplasia, Shohat type
|
|
spondyloepimetaphyseal dysplasia, Strudwick type
|
|
spondyloepimetaphyseal dysplasia, aggrecan type
|
|
spondyloepimetaphyseal dysplasia, di rocco type
|
|
spondyloepimetaphyseal dysplasia, matrilin-3 type
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
|
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
|
|
spondyloepiphyseal dysplasia
|
|
spondyloepiphyseal dysplasia congenita
|
|
spondyloepiphyseal dysplasia tarda
|
|
spondyloepiphyseal dysplasia tarda, X-linked
|
|
spondyloepiphyseal dysplasia with congenital joint dislocations
|
|
spondyloepiphyseal dysplasia with metatarsal shortening
|
|
spondyloepiphyseal dysplasia, Kimberley type
|
|
spondyloepiphyseal dysplasia, Stanescu type
|
|
spondyloepiphyseal dysplasia, kondo-fu type
|
|
spondyloepiphyseal dysplasia, nishimura type
|
|
spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
|
|
spondylometaphyseal dysplasia
|
|
spondylometaphyseal dysplasia with corneal dystrophy
|
|
spondylometaphyseal dysplasia, 'corner fracture' type
|
|
spondylometaphyseal dysplasia, Kozlowski type
|
|
spondylometaphyseal dysplasia, Sedaghatian type
|
|
spondylometaphyseal dysplasia, pagnamenta type
|
|
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
|
|
spondyloperipheral dysplasia
|
|
spongiform encephalopathy with neuropsychiatric features
|
|
sporadic Creutzfeldt-Jakob disease
|
|
sporadic fetal brain disruption sequence
|
|
sporadic hemiplegic migraine
|
|
sporadic idiopathic steroid-resistant nephrotic syndrome
|
|
sporadic porphyria cutanea tarda
|
|
squalene synthase deficiency
|
|
squamous cell carcinoma
|
|
squamous cell lung carcinoma
|
|
squamous cell neoplasm
|
|
stapes ankylosis with broad thumbs and toes
|
|
status epilepticus
|
|
sterile multifocal osteomyelitis with periostitis and pustulosis
|
|
steroid inherited metabolic disorder
|
|
steroid metabolism disease
|
|
steroid-resistant nephrotic syndrome
|
|
sterol biosynthesis disorder
|
|
sterol carrier protein 2 deficiency
|
|
sterol metabolism disorder
|
|
stickler syndrome, IIa 6
|
|
stiff skin syndrome
|
|
stomach disorder
|
|
stomach polyp
|
|
strabismus
|
|
strabismus, susceptibility to
|
|
striatal degeneration, autosomal dominant
|
|
striatal degeneration, autosomal dominant 2
|
|
striate palmoplantar keratoderma
|
|
striatonigral degeneration
|
|
striatonigral degeneration, childhood-onset
|
|
striatonigral degeneration, infantile, mitochondrial
|
|
stroke disorder
|
|
stromal corneal dystrophy
|
|
structural brain anomalies with impaired intellectual development and craniosynostosis
|
|
structural congenital heart disease, multiple types - GATA4
|
|
structural heart defects and renal anomalies syndrome
|
|
stutter disorder
|
|
stuttering, familial persistent, 1
|
|
stuttering, familial persistent, 2
|
|
stuttering, familial persistent, 4
|
|
subcortical band heterotopia
|
|
subcutaneous panniculitis-like T-cell lymphoma
|
|
subcutaneous tissue disorder
|
|
subependymal giant cell astrocytoma
|
|
subependymoma
|
|
substance dependence
|
|
substance-related disorder
|
|
subvalvular aortic stenosis
|
|
succinic semialdehyde dehydrogenase deficiency
|
|
succinyl-CoA:3-ketoacid CoA transferase deficiency
|
|
sudden cardiac arrest
|
|
sudden cardiac failure, alcohol-induced
|
|
sudden cardiac failure, infantile
|
|
sudden infant death-dysgenesis of the testes syndrome
|
|
sulfide quinone oxidoreductase deficiency
|
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency
|
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
|
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
|
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
|
|
sulfur metabolism disease
|
|
superficial corneal dystrophy
|
|
superficial epidermolytic ichthyosis
|
|
supine hypotensive syndrome
|
|
suprabasal epidermolysis bullosa simplex
|
|
supranuclear oculomotor palsy
|
|
supranuclear palsy, progressive, 1
|
|
supratentorial cancer
|
|
supratentorial primitive neuroectodermal tumor
|
|
supravalvular aortic stenosis
|
|
surfactant metabolism dysfunction, pulmonary, 1
|
|
surfactant metabolism dysfunction, pulmonary, 2
|
|
surfactant metabolism dysfunction, pulmonary, 4
|
|
surfactant metabolism dysfunction, pulmonary, 5
|
|
susceptibility to HIV infection
|
|
susceptibility to angioedema induced by ACE inhibitors
|
|
susceptibility to familial cutaneous melanoma
|
|
susceptibility to mononeuropathy of the median nerve, mild
|
|
susceptibility to respiratory infections associated with CD8alpha chain mutation
|
|
susceptibility to uveal melanoma
|
|
susceptibility to visceral leishmaniasis, 2
|
|
sweat gland cancer
|
|
sweat gland carcinoma
|
|
sweat gland disorder
|
|
sweat gland neoplasm
|
|
sweet syndrome
|
|
symphalangism
|
|
symphalangism, proximal, 1B
|
|
symptomatic form of fragile X syndrome in female carrier
|
|
synaptopathy
|
|
syndactyly
|
|
syndactyly type 1
|
|
syndactyly type 3
|
|
syndactyly type 4
|
|
syndactyly type 5
|
|
syndactyly type 8
|
|
syndactyly-telecanthus-anogenital and renal malformations syndrome
|
|
syndrome caused by partial chromosomal deletion
|
|
syndrome caused by partial chromosomal duplication
|
|
syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
|
|
syndromic X-linked intellectual disability 14
|
|
syndromic X-linked intellectual disability 34
|
|
syndromic X-linked intellectual disability 5
|
|
syndromic X-linked intellectual disability 94
|
|
syndromic X-linked intellectual disability Claes-Jensen type
|
|
syndromic X-linked intellectual disability Hedera type
|
|
syndromic X-linked intellectual disability Lubs type
|
|
syndromic X-linked intellectual disability Najm type
|
|
syndromic X-linked intellectual disability Nascimento type
|
|
syndromic X-linked intellectual disability Raymond type
|
|
syndromic X-linked intellectual disability Shashi type
|
|
syndromic X-linked intellectual disability Siderius type
|
|
syndromic X-linked intellectual disability Snyder type
|
|
syndromic agammaglobulinemia
|
|
syndromic breast hypoplasia/aplasia
|
|
syndromic constitutional thrombocytopenia
|
|
syndromic craniosynostosis
|
|
syndromic disease
|
|
syndromic dyslipidemia
|
|
syndromic intellectual disability
|
|
syndromic microphthalmia
|
|
syndromic microphthalmia type 5
|
|
syndromic multisystem autoimmune disease due to ITCH deficiency
|
|
syndromic oculocutaneous albinism
|
|
synostosis
|
|
synovial plica syndrome
|
|
synovitis
|
|
synovium disorder
|
|
synpolydactyly
|
|
synpolydactyly type 1
|
|
synpolydactyly type 2
|
|
synucleinopathy
|
|
systemic lupus erythematosus
|
|
systemic lupus erythematosus 17
|
|
systemic lupus erythematosus, susceptibility to, 1
|
|
systemic lupus erythematosus, susceptibility to, 10
|
|
systemic lupus erythematosus, susceptibility to, 11
|
|
systemic lupus erythematosus, susceptibility to, 9
|
|
systemic mastocytosis
|
|
systemic primary carnitine deficiency disease
|
|
systolic heart failure
|
|
tall stature-intellectual disability-renal anomalies syndrome
|
|
tall stature-scoliosis-macrodactyly of the great toes syndrome
|
|
tarsal-carpal coalition syndrome
|
|
tauopathy
|
|
taurodontism, microdontia, and dens invaginatus
|
|
teeth, fused
|
|
teeth, supernumerary
|
|
telangiectasia, hereditary hemorrhagic, type 1
|
|
telangiectasia, hereditary hemorrhagic, type 2
|
|
telangiectasia, hereditary hemorrhagic, type 5
|
|
telangiectasis
|
|
telecanthus
|
|
telomere syndrome
|
|
temperature-sensitive oculocutaneous albinism type 1
|
|
temporal lobe epilepsy
|
|
temporomandibular joint disorder
|
|
temtamy preaxial brachydactyly syndrome
|
|
temtamy syndrome
|
|
teratoma
|
|
terminal osseous dysplasia-pigmentary defects syndrome
|
|
testicular anomalies with or without congenital heart disease
|
|
testicular cancer
|
|
testicular disorder
|
|
testicular germ cell tumor
|
|
testicular pure germ cell tumor
|
|
testicular seminoma
|
|
tetraamelia syndrome 1
|
|
tetraamelia syndrome 2
|
|
tetraamelia-multiple malformations syndrome
|
|
tetrahydrobiopterin metabolic process disease
|
|
tetralogy of fallot
|
|
tetrasomy 12p
|
|
tetrasomy 9p
|
|
thalamic cancer
|
|
thalamic disorder
|
|
thalassemia
|
|
thanatophoric dysplasia
|
|
thanatophoric dysplasia type 1
|
|
thanatophoric dysplasia type 2
|
|
thiamine-responsive dysfunction syndrome
|
|
thiamine-responsive megaloblastic anemia syndrome
|
|
thiopurine S-methyltransferase deficiency
|
|
thiopurine metabolic disease
|
|
third cranial nerve disorder
|
|
third-degree atrioventricular block
|
|
thoracic aortic aneurysm
|
|
thoracic benign neoplasm
|
|
thoracic cancer
|
|
thoracic malformation
|
|
thrombocythemia 1
|
|
thrombocythemia 2
|
|
thrombocythemia 3
|
|
thrombocytopenia
|
|
thrombocytopenia 1
|
|
thrombocytopenia 10
|
|
thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
|
|
thrombocytopenia 2
|
|
thrombocytopenia 3
|
|
thrombocytopenia 4
|
|
thrombocytopenia 5
|
|
thrombocytopenia 6
|
|
thrombocytopenia 7
|
|
thrombocytopenia 9
|
|
thrombocytopenia with congenital dyserythropoietic anemia
|
|
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
|
|
thrombocytopenia, anemia, and myelofibrosis
|
|
thrombocytopenia-absent radius syndrome
|
|
thrombocytopenic purpura
|
|
thrombocytosis disease
|
|
thrombomodulin-related bleeding disorder
|
|
thrombophilia
|
|
thrombophilia due to activated protein C resistance
|
|
thrombophilia due to protein C deficiency, autosomal dominant
|
|
thrombophilia due to protein C deficiency, autosomal recessive
|
|
thrombophilia due to protein S deficiency, autosomal dominant
|
|
thrombophilia due to protein S deficiency, autosomal recessive
|
|
thrombophilia due to thrombin defect
|
|
thrombophilia, X-linked, due to factor 8 defect
|
|
thrombophilia, X-linked, due to factor 9 defect
|
|
thrombotic disease
|
|
thrombotic microangiopathy
|
|
thrombotic thrombocytopenic purpura
|
|
thumb deformity
|
|
thymic epithelial neoplasm
|
|
thymoma
|
|
thymus gland disorder
|
|
thymus neoplasm
|
|
thyroid Hurthle cell carcinoma
|
|
thyroid cancer
|
|
thyroid cancer, nonmedullary, 1
|
|
thyroid cancer, nonmedullary, 2
|
|
thyroid cancer, nonmedullary, 4
|
|
thyroid cancer, nonmedullary, 5
|
|
thyroid dyshormonogenesis 2A
|
|
thyroid dyshormonogenesis 3
|
|
thyroid dyshormonogenesis 4
|
|
thyroid dyshormonogenesis 5
|
|
thyroid dyshormonogenesis 6
|
|
thyroid gland adenocarcinoma
|
|
thyroid gland carcinoma
|
|
thyroid gland disorder
|
|
thyroid gland follicular carcinoma
|
|
thyroid gland oncocytic follicular carcinoma
|
|
thyroid gland papillary carcinoma
|
|
thyroid gland undifferentiated (anaplastic) carcinoma
|
|
thyroid hemiagenesis
|
|
thyroid hormone metabolism, abnormal
|
|
thyroid hormone metabolism, abnormal 1
|
|
thyroid hormone metabolism, abnormal, 2
|
|
thyroid hormone metabolism, abnormal, 3
|
|
thyroid hormone resistance syndrome
|
|
thyroid hormone resistance, generalized, autosomal dominant
|
|
thyroid hormone resistance, generalized, autosomal recessive
|
|
thyroid tumor
|
|
thyroiditis
|
|
thyrotoxic periodic paralysis
|
|
thyrotoxic periodic paralysis, susceptibility to, 1
|
|
thyrotoxic periodic paralysis, susceptibility to, 2
|
|
tibia, hypoplasia or aplasia of, with polydactyly
|
|
tibial aplasia-ectrodactyly syndrome
|
|
tibial muscular dystrophy
|
|
tic disorder
|
|
tobacco addiction, susceptibility to
|
|
tongue disorder
|
|
tooth agenesis
|
|
tooth agenesis, selective, 1
|
|
tooth agenesis, selective, 10
|
|
tooth agenesis, selective, 2
|
|
tooth agenesis, selective, 3
|
|
tooth agenesis, selective, 4
|
|
tooth agenesis, selective, 7
|
|
tooth agenesis, selective, 8
|
|
tooth agenesis, selective, 9
|
|
tooth agenesis, selective, X-linked, 1
|
|
tooth and nail syndrome
|
|
tooth disorder
|
|
tooth hard tissue disease
|
|
torsades de pointes
|
|
torsion dystonia 2
|
|
torsion dystonia 4
|
|
torsion dystonia 6
|
|
total early-onset cataract
|
|
toxemia of pregnancy
|
|
toxic dermatosis
|
|
toxic encephalopathy
|
|
toxic epidermal necrolysis
|
|
trabecular adenocarcinoma
|
|
tracheal disorder
|
|
tracheomalacia
|
|
transaldolase deficiency
|
|
transcobalamin I deficiency
|
|
transcobalamin II deficiency
|
|
transient bullous dermolysis of the newborn
|
|
transient familial neonatal hyperbilirubinemia
|
|
transient infantile hypertriglyceridemia and hepatosteatosis
|
|
transient ischemic attack
|
|
transient myeloproliferative syndrome
|
|
transient neonatal diabetes mellitus
|
|
transitional cell carcinoma
|
|
transitional cell neoplasm
|
|
transketolase deficiency
|
|
transposition of the great arteries
|
|
transposition of the great arteries, dextro-looped
|
|
tremor, hereditary essential, 1
|
|
tremor, hereditary essential, 4
|
|
tremor, hereditary essential, 5
|
|
tremor, hereditary essential, 6
|
|
tremor-ataxia-central hypomyelination syndrome
|
|
triatrial heart
|
|
tricarboxylic acid cycle disorder
|
|
tricho-dento-osseous syndrome
|
|
tricho-oculo-dermo-vertebral syndrome
|
|
trichoepithelioma, multiple familial, 1
|
|
trichoepithelioma, multiple familial, 2
|
|
trichohepatoenteric syndrome
|
|
trichohepatoenteric syndrome 1
|
|
trichohepatoenteric syndrome 2
|
|
trichohepatoneurodevelopmental syndrome
|
|
trichomegaly
|
|
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
|
|
trichorhinophalangeal syndrome
|
|
trichorhinophalangeal syndrome type I
|
|
trichorhinophalangeal syndrome type II
|
|
trichorhinophalangeal syndrome, type III
|
|
trichothiodystrophy
|
|
trichothiodystrophy 1, photosensitive
|
|
trichothiodystrophy 2, photosensitive
|
|
trichothiodystrophy 3, photosensitive
|
|
trichothiodystrophy 4, nonphotosensitive
|
|
trichothiodystrophy 5, nonphotosensitive
|
|
trichothiodystrophy 6, nonphotosensitive
|
|
trichothiodystrophy 7, nonphotosensitive
|
|
trichothiodystrophy 8, nonphotosensitive
|
|
trichothiodystrophy 9, nonphotosensitive
|
|
trichotillomania
|
|
tricuspid atresia
|
|
tricuspid valve disorder
|
|
tricuspid valve insufficiency
|
|
trigonocephaly
|
|
trigonocephaly 1
|
|
trigonocephaly 2
|
|
trigonocephaly-short stature-developmental delay syndrome
|
|
trilateral retinoblastoma
|
|
trimethylaminuria
|
|
triokinase and FMN cyclase deficiency syndrome
|
|
triosephosphate isomerase deficiency
|
|
triphalangeal thumb-polysyndactyly syndrome
|
|
triple-A syndrome
|
|
triple-negative breast carcinoma
|
|
trismus-pseudocamptodactyly syndrome
|
|
trisomy
|
|
trisomy 12p
|
|
trisomy 13
|
|
trisomy 18
|
|
trisomy 9p
|
|
trisomy X
|
|
trophoblastic neoplasm
|
|
tropical pancreatitis
|
|
trypsinogen deficiency
|
|
tuberous sclerosis
|
|
tuberous sclerosis 1
|
|
tuberous sclerosis 2
|
|
tubular aggregate myopathy
|
|
tubulinopathy
|
|
tubulinopathy-associated dysgyria
|
|
tubulointerstitial kidney disease, autosomal dominant, 2
|
|
tufted angioma
|
|
tumor of adipose tissue
|
|
tumor of cranial and spinal nerves
|
|
tumor of duodenum
|
|
tumor of meninges
|
|
tumor of parathyroid gland
|
|
tumor of salivary gland
|
|
tumor of uterus
|
|
tumor predisposition syndrome 2
|
|
tumor predisposition syndrome 3
|
|
tumoral calcinosis, hyperphosphatemic, familial, 1
|
|
tumoral calcinosis, hyperphosphatemic, familial, 2
|
|
tumoral calcinosis, hyperphosphatemic, familial, 3
|
|
turnpenny-fry syndrome
|
|
type 1 diabetes mellitus
|
|
type 1 diabetes mellitus 10
|
|
type 1 diabetes mellitus 12
|
|
type 1 diabetes mellitus 17
|
|
type 1 diabetes mellitus 2
|
|
type 1 diabetes mellitus 20
|
|
type 1 diabetes mellitus 22
|
|
type 1 diabetes mellitus 5
|
|
type 1 interferonopathy
|
|
type 1 interferonopathy of childhood
|
|
type 2 collagenopathy
|
|
type 2 diabetes mellitus
|
|
type I complement component 8 deficiency
|
|
type II complement component 8 deficiency
|
|
type IV hypersensitivity disease
|
|
typical nemaline myopathy
|
|
tyrosine hydroxylase deficiency
|
|
tyrosinemia
|
|
tyrosinemia type I
|
|
tyrosinemia type II
|
|
tyrosinemia type III
|
|
ulerythema ophryogenesis
|
|
ulnar-mammary syndrome
|
|
ulnar/fibula ray defect-brachydactyly syndrome
|
|
uncombable hair syndrome
|
|
uncombable hair syndrome 1
|
|
uncombable hair syndrome 2
|
|
uncombable hair syndrome 3
|
|
undetermined early-onset epileptic encephalopathy
|
|
undifferentiated carcinoma
|
|
undifferentiated pleomorphic sarcoma
|
|
unilateral polymicrogyria
|
|
uniparental disomy
|
|
univentricular cardiopathy
|
|
upper digestive tract disorder
|
|
upper respiratory tract disorder
|
|
urachal cyst
|
|
urea cycle disorder
|
|
urea cycle disorder or inherited hyperammonemia
|
|
ureteral disorder
|
|
urethral disorder
|
|
urethral obstruction
|
|
urethral stricture
|
|
uridine-cytidineuria
|
|
urinary bladder cancer
|
|
urinary bladder carcinoma
|
|
urinary bladder disorder
|
|
urinary bladder neoplasm
|
|
urinary bladder, atony of
|
|
urinary system disorder
|
|
urinary system neoplasm
|
|
urinary tract obstruction
|
|
urocanic aciduria
|
|
urofacial syndrome 2
|
|
urofacial syndrome type 1
|
|
urogenital tract malformation
|
|
urolithiasis
|
|
urothelial carcinoma
|
|
urothelial neoplasm
|
|
urticaria
|
|
uterine benign neoplasm
|
|
uterine cancer
|
|
uterine carcinoma
|
|
uterine carcinosarcoma
|
|
uterine cervix neoplasm
|
|
uterine corpus cancer
|
|
uterine corpus leiomyoma
|
|
uterine disorder
|
|
uvea neoplasm
|
|
uveal cancer
|
|
uveal coloboma-cleft lip and palate-intellectual disability
|
|
uveal disorder
|
|
uveal melanoma
|
|
uveitis
|
|
valine metabolism disease
|
|
van Maldergem syndrome
|
|
van Maldergem syndrome 1
|
|
van Maldergem syndrome 2
|
|
van den Ende-Gupta syndrome
|
|
van der Woude syndrome
|
|
van der Woude syndrome 1
|
|
van der Woude syndrome 2
|
|
variable age onset epilepsy
|
|
varicella, severe recurrent
|
|
varicocele
|
|
varicose disease
|
|
variegate porphyria
|
|
variegate porphyria, childhood-onset
|
|
vas deferens, congenital bilateral aplasia of, X-linked
|
|
vascular bone neoplasm
|
|
vascular cancer
|
|
vascular dementia
|
|
vascular disorder
|
|
vascular ectasia
|
|
vascular hemostatic disease
|
|
vascular insufficiency disorder
|
|
vascular malformation
|
|
vascular neoplasm
|
|
vasculitis
|
|
vasculitis due to ADA2 deficiency
|
|
vector-borne disease
|
|
vein disorder
|
|
vein of Galen aneurysm
|
|
velocardiofacial syndrome
|
|
venous hemangioma
|
|
venous thromboembolism
|
|
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
|
|
ventricular fibrillation
|
|
ventricular fibrillation, paroxysmal familial, 2
|
|
ventricular fibrillation, paroxysmal familial, type 1
|
|
ventricular septal defect
|
|
ventricular septal defect 1
|
|
ventricular septal defect 2
|
|
ventricular septal defect 3
|
|
ventricular tachycardia
|
|
ventricular tachycardia, catecholaminergic polymorphic 6
|
|
ventricular tachycardia, familial
|
|
ventriculomegaly and arthrogryposis
|
|
ventriculomegaly-cystic kidney disease
|
|
verrucous hemangioma
|
|
vertebral anomalies and variable endocrine and T-cell dysfunction
|
|
vertebral column disorder
|
|
vertebral hypersegmentation and orofacial anomalies
|
|
vertebral, cardiac, renal, and limb defects syndrome 1
|
|
vertebral, cardiac, renal, and limb defects syndrome 2
|
|
vertebral, cardiac, renal, and limb defects syndrome 3
|
|
vertebral, cardiac, tracheoesophageal, renal, and limb defects
|
|
very long chain acyl-CoA dehydrogenase deficiency
|
|
vesicoureteral reflux
|
|
vesicoureteral reflux 1
|
|
vesicoureteral reflux 2
|
|
vesicoureteral reflux 3
|
|
vesicoureteral reflux 8
|
|
vesiculobullous skin disease
|
|
vestibular disorder
|
|
vibratory urticaria
|
|
viral encephalitis
|
|
viral infection of central nervous system
|
|
viral infectious disease
|
|
virus associated tumor
|
|
visceral heterotaxy
|
|
visceral myopathy 1
|
|
visceral myopathy 2
|
|
visceral neuropathy, familial
|
|
visceral neuropathy, familial, 1, autosomal recessive
|
|
visceral neuropathy, familial, 2, autosomal recessive
|
|
visceral neuropathy, familial, 3, autosomal dominant
|
|
vision disorder
|
|
visual cortex disorder
|
|
visual epilepsy
|
|
visual impairment and progressive phthisis bulbi
|
|
visual pathway disorder
|
|
vitamin B deficiency
|
|
vitamin B12 deficiency
|
|
vitamin B12- and folate-independent constitutional megaloblastic anemia
|
|
vitamin B12-responsive methylmalonic acidemia
|
|
vitamin B12-responsive methylmalonic acidemia, type cblDv2
|
|
vitamin D deficiency
|
|
vitamin D hydroxylation-deficient rickets, type 1B
|
|
vitamin D-dependent rickets
|
|
vitamin D-dependent rickets, type 1
|
|
vitamin D-dependent rickets, type 1A
|
|
vitamin D-dependent rickets, type 2
|
|
vitamin D-dependent rickets, type 2A
|
|
vitamin D-dependent rickets, type 3
|
|
vitamin K-dependent clotting factors, combined deficiency of, type 1
|
|
vitamin K-dependent clotting factors, combined deficiency of, type 2
|
|
vitamin deficiency disorder
|
|
vitelliform macular dystrophy
|
|
vitelliform macular dystrophy 1
|
|
vitelliform macular dystrophy 2
|
|
vitelliform macular dystrophy 3
|
|
vitelliform macular dystrophy 4
|
|
vitelliform macular dystrophy 5
|
|
vitiligo
|
|
vitiligo-associated multiple autoimmune disease susceptibility 1
|
|
vitreoretinal degeneration
|
|
vitreoretinopathy with phalangeal epiphyseal dysplasia
|
|
vitreous body disorder
|
|
vitreous disorder
|
|
vitreous syneresis
|
|
volvulus of midgut
|
|
von Hippel-Lindau disease
|
|
von Willebrand disease (hereditary or acquired)
|
|
von Willebrand disease 1
|
|
von Willebrand disease 2
|
|
von Willebrand disease 3
|
|
von Willebrand disease type 2A
|
|
von Willebrand disease type 2B
|
|
von Willebrand disease type 2M
|
|
von Willebrand disease type 2N
|
|
warburg-cinotti syndrome
|
|
weiss-kruszka syndrome
|
|
white sponge nevus 1
|
|
white sponge nevus 2
|
|
woolly hair-skin fragility syndrome
|
|
wooly hair nevus
|
|
wooly hair, autosomal recessive 1, with or without hypotrichosis
|
|
wooly hair, autosomal recessive 3
|
|
wooly hair-palmoplantar keratoderma syndrome
|
|
wrinkly skin syndrome
|
|
xanthinuria
|
|
xanthinuria type I
|
|
xanthinuria type II
|
|
xanthomatosis
|
|
xeroderma pigmentosum
|
|
xeroderma pigmentosum group A
|
|
xeroderma pigmentosum group B
|
|
xeroderma pigmentosum group C
|
|
xeroderma pigmentosum group D
|
|
xeroderma pigmentosum group E
|
|
xeroderma pigmentosum group F
|
|
xeroderma pigmentosum group G
|
|
xeroderma pigmentosum variant type
|
|
xeroderma pigmentosum, type F/Cockayne syndrome
|
|
xeroderma pigmentosum-Cockayne syndrome complex
|
|
xerosis and growth failure with immune and pulmonary dysfunction syndrome
|
|
yakut short stature syndrome
|
|
young-onset Parkinson disease
|
|
zimmermann-laband syndrome 3
|
|
zinc deficiency, transient neonatal
|