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Disease	Synonyms	Description
autosomal dominant non-syndromic intellectual disability 18	autosomal dominant mental retardation 18; MRD18	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. [-]
autosomal dominant non-syndromic intellectual disability 19	autosomal dominant mental retardation 19; MRD19	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1. [-]
autosomal dominant non-syndromic intellectual disability 21	autosomal dominant mental retardation 21; MRD21	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTCF on chromosome 16q22.1. [-]
autosomal dominant intellectual developmental disorder 22	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 22; autosomal dominant mental retardation 22; MRD22 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. [-]
autosomal dominant non-syndromic intellectual disability 23	autosomal dominant mental retardation 23; MRD23	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SETD5 on chromosome 3p25.3. [-]
autosomal dominant non-syndromic intellectual disability 24	autosomal dominant mental retardation 24; MRD24	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DEAF1 on chromosome 11p15.5. [-]
autosomal dominant intellectual developmental disorder 26	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 26; autosomal dominant mental retardation 26; MRD26 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. [-]
autosomal dominant non-syndromic intellectual disability 27	autosomal dominant mental retardation 27; MRD27	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SOX11 on chromosome 2p25.2. [-]
autosomal dominant intellectual developmental disorder 29	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 29; autosomal dominant mental retardation 29; MRD29 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. [-]
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 non-syndromic intellectual disability 31	autosomal dominant mental retardation 31; MRD31	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PURA on chromosome 5q31.3. [-]
autosomal dominant non-syndromic intellectual disability 32	autosomal dominant mental retardation 32; MRD32	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KAT6A on chromosome 8p11.21. [-]
autosomal dominant non-syndromic intellectual disability 33	autosomal dominant mental retardation 33; MRD33	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DPP6 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 non-syndromic intellectual disability 35	autosomal dominant mental retardation 35; MRD35	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. [-]
autosomal dominant non-syndromic intellectual disability 36	autosomal dominant mental retardation 36; MRD36	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41. [-]
autosomal dominant non-syndromic intellectual disability 38	autosomal dominant mental retardation 38; MRD38; P.. [+] autosomal dominant mental retardation 38; MRD38; PRELDS; psychomotor retardation, epilepsy, and language disability syndrome [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33. [-]
autosomal dominant non-syndromic intellectual disability 39	autosomal dominant mental retardation 39; MRD39	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MYT1L on chromosome 2p25.3. [-]
autosomal dominant non-syndromic intellectual disability 40	autosomal dominant mental retardation 40; MRD40	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MYT1L on chromosome 2p25.3. [-]
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 non-syndromic intellectual disability 42	autosomal dominant mental retardation 42; MRD42	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GNB1 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 intellectual developmental disorder 44 with microcephaly; autosomal dominant mental retardation 44; 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 that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret 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. [-]
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 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. [-]
absence epilepsy		An electroclinical syndrome characterized by the o..[+] An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. [-]
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 16		n_a
axial osteomalacia		An osteosclerosis that results_in coarsening locat..[+] An osteosclerosis that results_in coarsening located_in trabecular bone. [-]
autosomal recessive spinocerebellar ataxia 18		n_a
achondrogenesis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. [-]
acromesomelic dysplasia		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. [-]
acromesomelic dysplasia, Maroteaux type	acromesomelic dysplasia-1	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. [-]
acromesomelic dysplasia, Hunter-Thompson type	acromesomelic dwarfism	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. [-]

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