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Disease	Synonyms	Description
non-syndromic X-linked intellectual disability 91	MRX91; X-linked mental retardation 91	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. [-]
non-syndromic X-linked intellectual disability 93	MRX93; X-linked mental retardation 93; X-linked me.. [+] MRX93; X-linked mental retardation 93; X-linked mental retardation with macrocephaly [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. [-]
non-syndromic X-linked intellectual disability 97	MRX65; MRX97; MRXZ; X-linked mental retardation 65.. [+] MRX65; MRX97; MRXZ; X-linked mental retardation 65; X-linked mental retardation 97 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. [-]
non-syndromic X-linked intellectual disability 53	MRX53; X-linked mental retardation 53	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. [-]
non-syndromic X-linked intellectual disability 101	MRX101; X-linked mental retardation 101	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. [-]
non-syndromic X-linked intellectual disability 23	MRX23; X-linked mental retardation 23	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. [-]
non-syndromic X-linked intellectual disability 63	ACSL4-related intellectual disability; MRX68; X-li.. [+] ACSL4-related intellectual disability; MRX68; X-linked mental retardation 63; X-linked mental retardation 68; MRX63 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 30	MRX30; MRX47; X-linked mental retardation 30; X-li.. [+] MRX30; MRX47; X-linked mental retardation 30; X-linked mental retardation 30/47; X-linked mental retardation 47 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 88	MRX88; X-linked mental retardation 88	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. [-]
non-syndromic X-linked intellectual disability 107	MRX107; X-linked mental retardation 107	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. [-]
non-syndromic X-linked intellectual disability 41	MRX41; MRX48; X-linked mental retardation 41; X-li.. [+] MRX41; MRX48; X-linked mental retardation 41; X-linked mental retardation 48 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. [-]
non-syndromic X-linked intellectual disability 72	MRX72; X-linked mental retardation 72	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. [-]
nuclear type mitochondrial complex I deficiency	MC1DN	A mitochondrial complex I deficiency that has_mate..[+] A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. [-]
nuclear type mitochondrial complex I deficiency 6	MC1DN6	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the NDUFS2 gene on chromosome 1q23. [-]
nuclear type mitochondrial complex I deficiency 25	MC1DN25	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. [-]
nuclear type mitochondrial complex I deficiency 5	MC1DN5	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. [-]
nuclear type mitochondrial complex I deficiency 22	MC1DN22	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. [-]
nuclear type mitochondrial complex I deficiency 18	MC1DN18	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. [-]
nuclear type mitochondrial complex I deficiency 31	MC1DN31	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. [-]
nuclear type mitochondrial complex I deficiency 20	ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficie.. [+] ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency; MC1DN20; mitochondrial complex 1 deficiency due to ACAD9 deficiency [-]	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. [-]
nuclear type mitochondrial complex I deficiency 9	MC1DN9	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. [-]
nuclear type mitochondrial complex I deficiency 1	MC1DN1	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. [-]
nuclear type mitochondrial complex I deficiency 10	MC1DN10	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. [-]
nuclear type mitochondrial complex I deficiency 13	MC1DN13	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. [-]
nuclear type mitochondrial complex I deficiency 15	MC1DN15	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. [-]
nuclear type mitochondrial complex I deficiency 17	MC1DN17	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. [-]
nuclear type mitochondrial complex I deficiency 24	MC1DN24	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. [-]
nuclear type mitochondrial complex I deficiency 32	MC1DN32	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. [-]
nuclear type mitochondrial complex I deficiency 8	MC1DN8	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. [-]
nuclear type mitochondrial complex I deficiency 4	MC1DN4	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. [-]
nuclear type mitochondrial complex I deficiency 2	MC1DN2	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. [-]
nuclear type mitochondrial complex I deficiency 29	MC1DN29	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. [-]
nuclear type mitochondrial complex I deficiency 19	MC1DN19	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. [-]
nuclear type mitochondrial complex I deficiency 26	MC1DN26	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. [-]
nuclear type mitochondrial complex I deficiency 23	MC1DN23	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. [-]
nuclear type mitochondrial complex I deficiency 21	MC1DN21	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. [-]
nuclear type mitochondrial complex I deficiency 11	MC1DN11	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. [-]
nuclear type mitochondrial complex I deficiency 27	MC1DN27	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. [-]
nuclear type mitochondrial complex I deficiency 34	MC1DN34	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. [-]
nuclear type mitochondrial complex I deficiency 7	MC1DN7	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. [-]
nuclear type mitochondrial complex I deficiency 3	MC1DN3	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. [-]
nuclear type mitochondrial complex I deficiency 14	MC1DN14	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. [-]
nuclear type mitochondrial complex I deficiency 28	MC1DN28	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. [-]
nuclear type mitochondrial complex I deficiency 16	MC1DN16	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. [-]
nuclear type mitochondrial complex I deficiency 33	MC1DN33	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. [-]
nuclear type mitochondrial complex I deficiency 30	MC1DN30	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. [-]
nuclear type mitochondrial complex I deficiency 12	MC1DN12	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. [-]
nephrogenic syndrome of inappropriate antidiuresis	NSIAD	A renal tubular transport disease characterized by..[+] A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. [-]
nuclear type mitochondrial complex I deficiency 35	MC1DN35	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. [-]
Noonan syndrome 13	NS13	A Noonan syndrome characterized by developmental d..[+] A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. [-]