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Disease	Synonyms	Description	Articles
autosomal dominant intellectual developmental disorder 30	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 30; autosomal dominant mental retardation 30; MRD30 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. [-]
autosomal dominant intellectual developmental disorder 31	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 31; autosomal dominant mental retardation 31; MRD31 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. [-]
Arboleda-Tham syndrome	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 32; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; ARTHS; autosomal dominant mental retardation 32; MRD32 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. [-]
autosomal dominant intellectual developmental disorder 33	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 33; autosomal dominant mental retardation 33; MRD33 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. [-]
autosomal dominant intellectual developmental disorder 34	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 34; autosomal dominant mental retardation 34; MRD34 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. [-]
autosomal dominant intellectual developmental disorder 35	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 35; autosomal dominant mental retardation 35; MRD35 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. [-]
autosomal dominant intellectual developmental disorder 36	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 36; autosomal dominant mental retardation 36; MRD36 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. [-]
autosomal dominant intellectual developmental disorder 38	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 38; autosomal dominant mental retardation 38; MRD38; PRELDS; psychomotor retardation, epilepsy, and language disability syndrome [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. [-]
autosomal dominant intellectual developmental disorder 39	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 39; autosomal dominant mental retardation 39; MRD39 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. [-]
autosomal dominant intellectual developmental disorder 40	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 40; autosomal dominant mental retardation 40; MRD40 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. [-]
autosomal dominant intellectual developmental disorder 41	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 41; autosomal dominant mental retardation 41; MRD41 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. [-]
autosomal dominant intellectual developmental disorder 42	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 42; autosomal dominant mental retardation 42; MRD42 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. [-]
autosomal dominant intellectual developmental disorder 43	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 43; autosomal dominant mental retardation 43; MRD43 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. [-]
autosomal dominant intellectual developmental disorder 44	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 44; autosomal dominant mental retardation 44; autosomal dominant intellectual developmental disorder 44 with microcephaly; MRD44 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. [-]
autosomal recessive cutis laxa type IID	ARCL2D	An autosomal recessive cutis laxa type II classic ..[+] An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. [-]
autosomal dominant cutis laxa 1	ADCL1	An autosomal dominant cutis laxa that has_material..[+] An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. [-]
autosomal dominant cutis laxa 3	ADCL3	An autosomal dominant cutis laxa characterized by ..[+] An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
autosomal recessive cutis laxa type IIIA	ARCL3A; De Barsy syndrome A	A autosomal recessive cutis laxa type III that has..[+] A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
autosomal recessive cutis laxa type IB	ARCL1B	An autosomal recessive cutis laxa type I character..[+] An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. [-]
autosomal recessive cutis laxa type IIA	ARCL2A	An autosomal recessive cutis laxa type II classic ..[+] An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. [-]
autosomal recessive cutis laxa type IA	ARCL1A	An autosomal recessive cutis laxa type I that has_..[+] An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. [-]
autosomal dominant cutis laxa 2	ADCL2	An autosomal dominant cutis laxa that has_material..[+] An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. [-]
autosomal recessive cutis laxa type IIB	ARCL2B; ARCL2, progeroid type	A cutis laxa characterized by progeroid features t..[+] A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. [-]	1 articles
autosomal recessive cutis laxa type IIIB	ARCL3B; De Barsy syndrome B	An autosomal recessive cutis laxa type III that ha..[+] An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. [-]
autosomal recessive cutis laxa type IC	autosomal recessive cutis laxa type 1C; ARCL1C	A autosomal recessive cutis laxa type I that has_m..[+] A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. [-]
autosomal recessive cutis laxa type IIC		An autosomal recessive cutis laxa type II classic ..[+] An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. [-]
autosomal recessive cutis laxa type II classic type	ARCL2, Debre type; ARCL2, classic type	A cutis laxa characterized by generalized skin wri..[+] A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. [-]
autosomal dominant cutis laxa	ADCL	A cutis laxa characterized by autosomal dominant i..[+] A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. [-]
autosomal recessive cutis laxa type III	cutis laxa-corneal clouding-intellectual disabilit.. [+] cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome [-]	A cutis laxa characterized by a progeria-like appe..[+] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. [-]
autosomal recessive cutis laxa type I	autosomal recessive cutis laxa type 1	A cutis laxa characterized by wrinkled, redundant ..[+] A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems. [-]
atypical hereditary sensory neuropathy		A hereditary sensory neuropathy characterized by l..[+] A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. [-]
autosomal recessive chronic granulomatous disease 2	autosomal recessive chronic granulomatous disease .. [+] autosomal recessive chronic granulomatous disease cytochrome b-positive type II; autosomal recessive chronic granulomatous disease 2; CDG2; deficiency of NCF2; deficiency of p67-PHOX; chronic granulomatous disease due to deficiency of NCF-2 [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. [-]
autosomal recessive chronic granulomatous disease 1	autosomal recessive chronic granulomatous disease .. [+] autosomal recessive chronic granulomatous disease cytochrome b-positive type I; CDG1; chronic granulomatous disease due to deficiency of NCF-1; deficiency of NCF1; deficiency of neutrophil cytosol factor 1; deficiency of p47-PHOX; deficiency of SOC2; deficiency of soluble oxidase component II [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. [-]
autosomal recessive chronic granulomatous disease 4	autosomal recessive cytochrome b-negative CGD; aut.. [+] autosomal recessive cytochrome b-negative CGD; autosomal recessive chronic granulomatous disease 4; autosomal recessive chronic granulomatous disease cytochrome b-negative; CGD due to deficiency of the alpha subunit of cytochrome b; chronic granulomatous disease due to deficiency of CYBA; CYBA deficiency [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. [-]
autosomal recessive chronic granulomatous disease 3	autosomal recessive cytochrome b-positive CGD type.. [+] autosomal recessive cytochrome b-positive CGD type III; autosomal recessive chronic granulomatous disease cytochrome b-positive type III; CDG3; chronic granulomatous disease due to NCF4 deficiency [-]	A chronic granulomatous disease characterized by t..[+] A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 2	autosomal dominant limb-girdle muscular dystrophy .. [+] autosomal dominant limb-girdle muscular dystrophy type 1B; EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; Hauptmann-Thannhauser muscular dystrophy; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; scapuloilioperoneal atrophy with cardiopathy [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. [-]
autosomal recessive Emery-Dreifuss muscular dystrophy 3	EDMD3; Emery-Dreifuss muscular dystrophy 3, autoso.. [+] EDMD3; Emery-Dreifuss muscular dystrophy 3, autosomal recessive [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 4	EDMD4; Emery-Dreifuss muscular dystrophy 4 with va.. [+] EDMD4; Emery-Dreifuss muscular dystrophy 4 with variable features; Emery-Dreifuss muscular dystrophy 4, autosomal dominant [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 5	EDMD5; Emery-Dreifuss muscular dystrophy 5, autoso.. [+] EDMD5; Emery-Dreifuss muscular dystrophy 5, autosomal dominant [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 7	EDMD7; Emery-Dreifuss muscular dystrophy 7, autoso.. [+] EDMD7; Emery-Dreifuss muscular dystrophy 7, autosomal dominant [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. [-]
adult hepatocellular carcinoma	adult primary hepatocellular carcinoma; adult hepa.. [+] adult primary hepatocellular carcinoma; adult hepatoma [-]	A hepatocellular carcinoma that is characterized b..[+] A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. [-]
arthrogryposis multiplex congenita-6		An arthrogryposis multiplex congenita characterize..[+] An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. [-]
adult-onset type II citrullinemia	citrin deficiency	A citrullinemia that has_material_basis_in homozyg..[+] A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. [-]
autosomal recessive chronic granulomatous disease 5		A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. [-]
autosomal recessive spinocerebellar ataxia 28	SCAR28	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. [-]
autosomal recessive spinocerebellar ataxia 29	SCAR29	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. [-]
autosomal recessive spinocerebellar ataxia 30	SCAR30	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. [-]
autosomal recessive spinocerebellar ataxia 31	SCAR31	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. [-]
autosomal recessive spinocerebellar ataxia 32	SCAR32	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. [-]
autosomal recessive spinocerebellar ataxia 33	SCAR33	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. [-]

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