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Disease	Synonyms	Description
neurofibromatosis-Noonan syndrome	neurofibromatosis type 1-Noonan syndrome; Noonan n.. [+] neurofibromatosis type 1-Noonan syndrome; Noonan neurofibromatosis syndrome; NFNS; neurofibromatosis with Noonan phenotype [-]	A RASopathy characterized by neurofibromatosis and..[+] A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. [-]
nonphotosensitive trichothiodystrophy		A trichothiodystrophy characterized by absence of ..[+] A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. [-]
nonphotosensitive trichothiodystrophy 5	TTD5	A nonphotosensitive trichothiodystrophy characteri..[+] A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. [-]
nonphotosensitive trichothiodystrophy 7	TTD7	A nonphotosensitive trichothiodystrophy characteri..[+] A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. [-]
nonphotosensitive trichothiodystrophy 6	TTD6	A nonphotosensitive trichothiodystrophy that has_m..[+] A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. [-]
non-syndromic X-linked intellectual disability 2	MRX2; X-linked mental retardation 2; X-linked men.. [+] MRX2; X-linked mental retardation 2; X-linked mental retardation 2 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. [-]
non-syndromic X-linked intellectual disability 73	MRX73; X-linked mental retardation 73	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. [-]
non-syndromic X-linked intellectual disability 104	MRX104; X-linked mental retardation 104	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. [-]
non-syndromic X-linked intellectual disability 19	MRX19; X-linked mental retardation 19	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 hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. [-]
non-syndromic X-linked intellectual disability 103	MRX103; X-linked mental retardation 103	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. [-]
non-syndromic X-linked intellectual disability ARX-related	ARX-related intellectual disability; MRXARX; X-lin.. [+] ARX-related intellectual disability; MRXARX; X-linked mental retardation 29; X-linked mental retardation 29 and others; X-linked mental retardation 32; X-linked mental retardation 33; X-linked mental retardation 38; X-linked mental retardation 43; X-linked mental retardation 52; X-linked mental retardation 76; X-linked mental retardation 87; X-linked mental retardation with or without seizures ARX-related; X-linked mental retardation 54 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. [-]
non-syndromic X-linked intellectual disability 21	MRX21; MRX34; X-linked mental retardation 21; X-li.. [+] MRX21; MRX34; X-linked mental retardation 21; X-linked mental retardation 21/34; X-linked mental retardation 34 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. [-]
non-syndromic X-linked intellectual disability 20	MRX20; X-linked mental retardation 20	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. [-]
non-syndromic X-linked intellectual disability 58	MRX58; X-linked mental retardation 58	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. [-]
non-syndromic X-linked intellectual disability 99	MRX99; X-linked mental retardation 99	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. [-]
non-syndromic X-linked intellectual disability 14	MRX14; X-linked mental retardation 14	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. [-]
non-syndromic X-linked intellectual disability 45	MRX45; X-linked mental retardation 45	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. [-]
non-syndromic X-linked intellectual disability 50	MRX50; X-linked mental retardation 50; X-linked in.. [+] MRX50; X-linked mental retardation 50; X-linked intellectual developmental disorder 50; XLID50 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. [-]
non-syndromic X-linked intellectual disability 84	MRX84; X-linked mental retardation 84	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. [-]
non-syndromic X-linked intellectual disability 89	MRX89; X-linked mental retardation 89	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. [-]
non-syndromic X-linked intellectual disability 92	MRX92; X-linked mental retardation 92	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 hemizygous mutation in a region on chromosome Xp11.3. [-]
non-syndromic X-linked intellectual disability 81	MRX81; X-linked mental retardation 81	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 hemizygous mutation in a region on chromosome Xp11.2-q12. [-]
non-syndromic X-linked intellectual disability 9	MRX44; X-linked mental retardation 44; X-linked me.. [+] MRX44; X-linked mental retardation 44; X-linked mental retardation 9; MRX9 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 96	MRX96; X-linked mental retardation 96	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 105	MRX105; X-linked mental retardation 105	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 1	MRX1; MRX18; MRX78; X-linked mental retardation 1; .. [+] MRX1; MRX18; MRX78; X-linked mental retardation 1; X-linked mental retardation 1/78; X-linked mental retardation 18; X-linked mental retardation 78 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. [-]
non-syndromic X-linked intellectual disability 77	MRX77; X-linked mental retardation 77	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. [-]
non-syndromic X-linked intellectual disability 100	MRX100; X-linked mental retardation 100	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 hemizygous mutation in the KIF4A gene on chromosome Xq13.1. [-]
non-syndromic X-linked intellectual disability 90	MRX90; X-linked mental retardation 90	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 hemizygous mutation in the DLG3 gene on chromosome Xq13.1. [-]
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 98	MRX98; X-linked mental retardation 98	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF 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 disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 82	MRX82; X-linked mental retardation 82	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 Xq24-q25. [-]
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 46	MRX46; X-linked mental retardation 46	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. [-]
non-syndromic X-linked intellectual disability 42	MRX42; X-linked mental retardation 42	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 mutation in a region on chromosome Xq26. [-]
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 compound 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. [-]