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Disease	Synonyms	Description	Articles
autosomal dominant intellectual developmental disorder 10	autosomal dominant mental retardation 10; MRD10; a.. [+] autosomal dominant mental retardation 10; MRD10; 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	autosomal dominant mental retardation 11; MRD11; a.. [+] autosomal dominant mental retardation 11; MRD11; 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. [-]
autosomal dominant intellectual developmental disorder 13	autosomal dominant mental retardation 13; mental r.. [+] autosomal dominant mental retardation 13; mental retardation, autosomal dominant 13, with neuronal migration defects; MRD13; 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. [-]
autosomal dominant intellectual developmental disorder 19	autosomal dominant mental retardation 19; MRD19; a.. [+] autosomal dominant mental retardation 19; MRD19; 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. [-]
autosomal dominant intellectual developmental disorder 2	autosomal dominant mental retardation 2; MRD2; aut.. [+] autosomal dominant mental retardation 2; MRD2; 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 21	autosomal dominant mental retardation 21; MRD21; a.. [+] autosomal dominant mental retardation 21; MRD21; 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	autosomal dominant mental retardation 22; MRD22; a.. [+] autosomal dominant mental retardation 22; MRD22; 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	autosomal dominant mental retardation 23; MRD23; a.. [+] autosomal dominant mental retardation 23; MRD23; 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. [-]
autosomal dominant intellectual developmental disorder 26	autosomal dominant mental retardation 26; MRD26; a.. [+] autosomal dominant mental retardation 26; MRD26; 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. [-]
autosomal dominant intellectual developmental disorder 29	autosomal dominant mental retardation 29; MRD29; a.. [+] autosomal dominant mental retardation 29; MRD29; 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 3	autosomal dominant mental retardation 3; MRD3; aut.. [+] autosomal dominant mental retardation 3; MRD3; 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 30	autosomal dominant mental retardation 30; MRD30; a.. [+] autosomal dominant mental retardation 30; MRD30; 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	autosomal dominant mental retardation 31; MRD31; a.. [+] autosomal dominant mental retardation 31; MRD31; 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. [-]
autosomal dominant intellectual developmental disorder 33	autosomal dominant mental retardation 33; MRD33; a.. [+] autosomal dominant mental retardation 33; MRD33; 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	autosomal dominant mental retardation 34; MRD34; a.. [+] autosomal dominant mental retardation 34; MRD34; 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	autosomal dominant mental retardation 35; MRD35; a.. [+] autosomal dominant mental retardation 35; MRD35; 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	autosomal dominant mental retardation 36; MRD36; a.. [+] autosomal dominant mental retardation 36; MRD36; 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. [-]
autosomal dominant intellectual developmental disorder 38	autosomal dominant mental retardation 38; MRD38; P.. [+] autosomal dominant mental retardation 38; MRD38; PRELDS; psychomotor retardation, epilepsy, and language disability syndrome; autosomal dominant non-syndromic intellectual disability 38; [-]	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 mental retardation 39; MRD39; a.. [+] autosomal dominant mental retardation 39; MRD39; autosomal dominant non-syndromic intellectual disability 39; [-]	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 4	autosomal dominant mental retardation 4; MRD4; aut.. [+] autosomal dominant mental retardation 4; MRD4; 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 40	autosomal dominant mental retardation 40; MRD40; a.. [+] autosomal dominant mental retardation 40; MRD40; autosomal dominant non-syndromic intellectual disability 40; [-]	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 mental retardation 41; MRD41; a.. [+] autosomal dominant mental retardation 41; MRD41; autosomal dominant non-syndromic intellectual disability 41; [-]	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 mental retardation 42; MRD42; a.. [+] autosomal dominant mental retardation 42; MRD42; autosomal dominant non-syndromic intellectual disability 42; [-]	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 mental retardation 43; MRD43; a.. [+] autosomal dominant mental retardation 43; MRD43; autosomal dominant non-syndromic intellectual disability 43; [-]	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	MRD44; autosomal dominant intellectual development.. [+] MRD44; autosomal dominant intellectual developmental disorder 44 with microcephaly; autosomal dominant mental retardation 44; autosomal dominant non-syndromic intellectual disability 44; [-]	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 dominant intellectual developmental disorder 45	autosomal dominant mental retardation 45;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. [-]
autosomal dominant intellectual developmental disorder 46	autosomal dominant mental retardation 46;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. [-]
autosomal dominant intellectual developmental disorder 47	autosomal dominant mental retardation 47;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. [-]
autosomal dominant intellectual developmental disorder 48	autosomal dominant mental retardation 48;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. [-]
autosomal dominant intellectual developmental disorder 5	autosomal dominant mental retardation 5; MRD5; aut.. [+] autosomal dominant mental retardation 5; MRD5; 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 50	autosomal dominant intellectual developmental diso.. [+] autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities; autosomal dominant mental retardation 50; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. [-]
autosomal dominant intellectual developmental disorder 52	autosomal dominant mental retardation 52;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. [-]
autosomal dominant intellectual developmental disorder 53	autosomal dominant mental retardation 53;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. [-]
autosomal dominant intellectual developmental disorder 54	autosomal dominant mental retardation 54;	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. [-]
autosomal dominant intellectual developmental disorder 55	autosomal dominant intellectual developmental diso.. [+] autosomal dominant intellectual developmental disorder-55 with seizures; autosomal dominant mental retardation 55; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. [-]
autosomal dominant intellectual developmental disorder 56	autosomal dominant intellectual developmental diso.. [+] autosomal dominant intellectual developmental disorder-56; autosomal dominant mental retardation 56; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. [-]
autosomal dominant intellectual developmental disorder 6	autosomal dominant mental retardation 6; MRD6; aut.. [+] autosomal dominant mental retardation 6; MRD6; 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	autosomal dominant mental retardation 7; MRD7; aut.. [+] autosomal dominant mental retardation 7; MRD7; 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	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 8; autosomal dominant mental retardation 8; MRD8; [-]	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. [-]
autosomal dominant isolated ectopia lentis 1	ECTOL1;	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. [-]