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Disease	Synonyms	Description	Articles
orofaciodigital syndrome II	Mohr syndrome; Oral-facial-digital syndrome type 2.. [+] Mohr syndrome; Oral-facial-digital syndrome type 2 [-]	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. [-]
Seckel syndrome 1	microcephalic primordial dwarfism I; SCKL1	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. [-]	1 articles
Seckel syndrome 2	microcephalic primordial dwarfism 2; SCKL2; Seckel.. [+] microcephalic primordial dwarfism 2; SCKL2; Seckel-type dwarfism 2 [-]	A Seckel syndrome that has_material_basis_in homoz..[+] A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. [-]	1 articles
autosomal dominant intellectual developmental disorder 1	MRD1; autosomal dominant mental retardation 1; aut.. [+] MRD1; autosomal dominant mental retardation 1; autosomal dominant non-syndromic intellectual disability 1 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. [-]
autosomal dominant intellectual developmental disorder 2	MRD2; autosomal dominant mental retardation 2; aut.. [+] MRD2; autosomal dominant mental retardation 2; autosomal dominant non-syndromic intellectual disability 2 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. [-]
autosomal dominant intellectual developmental disorder 3	MRD3; autosomal dominant mental retardation 3; aut.. [+] MRD3; autosomal dominant mental retardation 3; autosomal dominant non-syndromic intellectual disability 3 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. [-]
autosomal dominant intellectual developmental disorder 4	MRD4; autosomal dominant mental retardation 4; aut.. [+] MRD4; autosomal dominant mental retardation 4; autosomal dominant non-syndromic intellectual disability 4 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. [-]
autosomal dominant intellectual developmental disorder 5	MRD5; autosomal dominant mental retardation 5; aut.. [+] MRD5; autosomal dominant mental retardation 5; autosomal dominant non-syndromic intellectual disability 5 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. [-]
autosomal dominant intellectual developmental disorder 6	MRD6; autosomal dominant mental retardation 6; aut.. [+] MRD6; autosomal dominant mental retardation 6; autosomal dominant non-syndromic intellectual disability 6 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. [-]
autosomal dominant intellectual developmental disorder 7	MRD7; autosomal dominant mental retardation 7; aut.. [+] MRD7; autosomal dominant mental retardation 7; autosomal dominant non-syndromic intellectual disability 7; DYRK1A syndrome [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. [-]	1 articles
autosomal dominant intellectual developmental disorder 8	MRD8; autosomal dominant non-syndromic intellectua.. [+] MRD8; autosomal dominant non-syndromic intellectual disability 8; autosomal dominant mental retardation 8 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. [-]
NESCAV syndrome	MRD9; autosomal dominant intellectual disability 9.. [+] MRD9; autosomal dominant intellectual disability 9; autosomal dominant mental retardation 9; autosomal dominant non-syndromic intellectual disability 9; NESCAVS; neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. [-]
autosomal dominant intellectual developmental disorder 10	MRD10; autosomal dominant mental retardation 10; a.. [+] MRD10; autosomal dominant mental retardation 10; autosomal dominant non-syndromic intellectual disability 10 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. [-]
autosomal dominant intellectual developmental disorder 11	MRD11; autosomal dominant mental retardation 11; a.. [+] MRD11; autosomal dominant mental retardation 11; autosomal dominant non-syndromic intellectual disability 11 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. [-]
Coffin-Siris syndrome 1	MRD12; autosomal dominant mental retardation 12; C.. [+] MRD12; autosomal dominant mental retardation 12; CSS1; fifth digit syndrome [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. [-]
autosomal dominant intellectual developmental disorder 13	MRD13; mental retardation, autosomal dominant 13, .. [+] MRD13; mental retardation, autosomal dominant 13, with neuronal migration defects; autosomal dominant mental retardation 13; autosomal dominant non-syndromic intellectual disability 13 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. [-]
Coffin-Siris syndrome 2	MRD14; autosomal dominant mental retardation 14; C.. [+] MRD14; autosomal dominant mental retardation 14; CSS2 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. [-]
Coffin-Siris syndrome 3	MRD15; autosomal dominant mental retardation 15; C.. [+] MRD15; autosomal dominant mental retardation 15; CSS3 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. [-]
Coffin-Siris syndrome 4	MRD16; autosomal dominant mental retardation 16; C.. [+] MRD16; autosomal dominant mental retardation 16; CSS4 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. [-]
Schuurs-Hoeijmakers Syndrome	MRD17; autosomal dominant mental retardation 17; S.. [+] MRD17; autosomal dominant mental retardation 17; SHMS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. [-]
GAND syndrome	MRD18; autosomal dominant mental retardation 18; a.. [+] MRD18; autosomal dominant mental retardation 18; autosomal dominant intellectual developmental disorder 18; autosomal dominant non-syndromic intellectual disability 18 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. [-]
autosomal dominant intellectual developmental disorder 19	MRD19; autosomal dominant mental retardation 19; a.. [+] MRD19; autosomal dominant mental retardation 19; autosomal dominant non-syndromic intellectual disability 19 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. [-]
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	MRD20; mental retardation, autosomal dominant 20; .. [+] mental retardation, autosomal dominant 20; MRD20; autosomal dominant mental retardation 20 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. [-]	1 articles
autosomal dominant intellectual developmental disorder 21	MRD21; autosomal dominant mental retardation 21; a.. [+] MRD21; autosomal dominant mental retardation 21; autosomal dominant non-syndromic intellectual disability 21 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. [-]
autosomal dominant intellectual developmental disorder 22	MRD22; autosomal dominant mental retardation 22; a.. [+] MRD22; autosomal dominant mental retardation 22; autosomal dominant non-syndromic intellectual disability 22 [-]	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 intellectual developmental disorder 23	MRD23; autosomal dominant mental retardation 23; a.. [+] MRD23; autosomal dominant mental retardation 23; autosomal dominant non-syndromic intellectual disability 23 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. [-]
Vulto-van Silfout-de Vries syndrome	MRD24; autosomal dominant mental retardation 24; a.. [+] MRD24; autosomal dominant mental retardation 24; autosomal dominant non-syndromic intellectual disability 24; IDDISBAS; intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; VSVS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. [-]
Xia-Gibbs Syndrome	MRD25; autosomal dominant mental retardation 25	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. [-]
autosomal dominant intellectual developmental disorder 26	MRD26; autosomal dominant mental retardation 26; a.. [+] MRD26; autosomal dominant mental retardation 26; autosomal dominant non-syndromic intellectual disability 26 [-]	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. [-]
Coffin-Siris syndrome 9	MRD27; autosomal dominant mental retardation 27; a.. [+] MRD27; autosomal dominant mental retardation 27; autosomal dominant non-syndromic intellectual disability 27 [-]	An Coffin-Siris syndrome characterized by mild int..[+] An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. [-]
Helsmoortel-Van Der Aa Syndrome	MRD28; autosomal dominant mental retardation 28; H.. [+] MRD28; autosomal dominant mental retardation 28; HVDAS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. [-]
autosomal dominant intellectual developmental disorder 29	MRD29; autosomal dominant mental retardation 29; a.. [+] MRD29; autosomal dominant mental retardation 29; autosomal dominant non-syndromic intellectual disability 29 [-]	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	MRD30; autosomal dominant mental retardation 30; a.. [+] MRD30; autosomal dominant mental retardation 30; autosomal dominant non-syndromic intellectual disability 30 [-]	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	MRD31; autosomal dominant mental retardation 31; a.. [+] MRD31; autosomal dominant mental retardation 31; autosomal dominant non-syndromic intellectual disability 31 [-]	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	MRD32; autosomal dominant mental retardation 32; A.. [+] MRD32; autosomal dominant mental retardation 32; ARTHS; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant non-syndromic intellectual disability 32 [-]	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	MRD33; autosomal dominant mental retardation 33; a.. [+] MRD33; autosomal dominant mental retardation 33; autosomal dominant non-syndromic intellectual disability 33 [-]	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	MRD34; autosomal dominant mental retardation 34; a.. [+] MRD34; autosomal dominant mental retardation 34; autosomal dominant non-syndromic intellectual disability 34 [-]	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	MRD35; autosomal dominant mental retardation 35; a.. [+] MRD35; autosomal dominant mental retardation 35; autosomal dominant non-syndromic intellectual disability 35 [-]	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	MRD36; autosomal dominant mental retardation 36; a.. [+] MRD36; autosomal dominant mental retardation 36; autosomal dominant non-syndromic intellectual disability 36 [-]	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. [-]
White-Sutton syndrome	MRD37; autosomal dominant mental retardation 37; W.. [+] MRD37; autosomal dominant mental retardation 37; WHSUS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. [-]