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Disease	Synonyms	Description
autosomal dominant macrothrombocytopenia TUBB1-related		A thrombocytopenia characterized by autosomal domi..[+] A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material_basis_in mutation in the TUBB1 gene on chromosome 20q13.3. [-]
autosomal dominant microcephaly		n_a
autosomal dominant nocturnal frontal lobe epilepsy	ENFL;	A frontal lobe epilepsy that is characterized by a..[+] A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. [-]
autosomal dominant nocturnal frontal lobe epilepsy 1	ENFL1; nocturnal frontal lobe epilepsy 1;	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. [-]
autosomal dominant nocturnal frontal lobe epilepsy 2	ENFL2; nocturnal frontal lobe epilepsy 2;	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. [-]
autosomal dominant nocturnal frontal lobe epilepsy 3	ENFL3; nocturnal frontal lobe epilepsy 3;	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 4	ENFL4; nocturnal frontal lobe epilepsy 4;	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 5	ENFL5; nocturnal frontal lobe epilepsy 5;	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]
autosomal dominant non-syndromic intellectual disability 1	autosomal dominant mental retardation 1; MRD1;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MBD5 on chromosome 2q23.1. [-]
autosomal dominant non-syndromic intellectual disability 10	autosomal dominant mental retardation 10; MRD10;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CACNG2 on chromosome 22q12.3. [-]
autosomal dominant non-syndromic intellectual disability 11	autosomal dominant mental retardation 11; MRD11;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23. [-]
autosomal dominant non-syndromic intellectual disability 13	autosomal dominant mental retardation 13; mental r.. [+] autosomal dominant mental retardation 13; mental retardation, autosomal dominant 13, with neuronal migration defects; MRD13; [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31. [-]
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 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 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 non-syndromic intellectual disability 3	autosomal dominant mental retardation 3; MRD3;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3. [-]
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 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 4	autosomal dominant mental retardation 4; MRD4;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIRREL3 on chromosome 11q24.2. [-]
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 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 non-syndromic intellectual disability 6	autosomal dominant mental retardation 6; MRD6;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1. [-]
autosomal dominant non-syndromic intellectual disability 8	autosomal dominant mental retardation 8; MRD8;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3. [-]
autosomal dominant non-syndromic intellectual disability 9	autosomal dominant mental retardation 9; MRD9;	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3. [-]
autosomal dominant nonsyndromic deafness	autosomal dominant deafness;	A nonsyndromic deafness characterized by an autoso..[+] A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. [-]
autosomal dominant nonsyndromic deafness 1	autosomal dominant deafness 1; DFNA1; hereditary l.. [+] autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; Konigsmark syndrome; LFHL1; autosomal dominant deafness 1, with or without thrombocytopenia; [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
autosomal dominant nonsyndromic deafness 10	autosomal dominant deafness 10; DFNA10;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. [-]
autosomal dominant nonsyndromic deafness 11	autosomal dominant deafness 11; DFNA11;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. [-]
autosomal dominant nonsyndromic deafness 12	autosomal dominant deafness 12; autosomal dominant.. [+] autosomal dominant deafness 12; autosomal dominant deafness 8; DFNA12; DFNA8; [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. [-]
autosomal dominant nonsyndromic deafness 13	autosomal dominant deafness 13; DFNA13;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. [-]
autosomal dominant nonsyndromic deafness 15	autosomal dominant deafness 15; DFNA15;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. [-]
autosomal dominant nonsyndromic deafness 16	autosomal dominant deafness 16; DFNA16;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. [-]
autosomal dominant nonsyndromic deafness 17	autosomal dominant deafness 17; DFNA17;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. [-]
autosomal dominant nonsyndromic deafness 18	autosomal dominant deafness 18; DFNA18;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. [-]
autosomal dominant nonsyndromic deafness 20	autosomal dominant deafness 20; DFNA20; DFNA26;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. [-]
autosomal dominant nonsyndromic deafness 21	autosomal dominant deafness 21; DFNA21;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. [-]
autosomal dominant nonsyndromic deafness 22	autosomal dominant deafness 22; DFNA22;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. [-]
autosomal dominant nonsyndromic deafness 23	autosomal dominant deafness 23; DFNA23;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. [-]
autosomal dominant nonsyndromic deafness 24	autosomal dominant deafness 24; DFNA24;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. [-]
autosomal dominant nonsyndromic deafness 25	autosomal dominant deafness 25; DFNA25;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. [-]
autosomal dominant nonsyndromic deafness 27	autosomal dominant deafness 27; DFNA27;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. [-]
autosomal dominant nonsyndromic deafness 28	autosomal dominant deafness 28; DFNA28;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. [-]