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Disease	Synonyms	Description	Articles	Phenotypes
nemaline myopathy 4	NEM4; nemaline myopathy 4, autosomal dominant; CAP.. [+] nemaline myopathy 4, autosomal dominant; NEM4; CAP myopathy 2 [-]	A nemaline myopathy that has_material_basis_in het..[+] A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. [-]
nemaline myopathy 11	NEM11; nemaline myopathy 11, autosomal recessive	A nemaline myopathy characterized by onset of slow..[+] A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. [-]
nemaline myopathy 7	nemaline myopathy 7, autosomal recessive; NEM7	A nemaline myopathy characterized by very early on..[+] A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. [-]
nemaline myopathy 6	nemaline myopathy 6, autosomal dominant	A nemaline myopathy characterized by autosomal dom..[+] A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. [-]
nemaline myopathy 5A	NEM5; nemaline myopathy 5, Amish type; Amish nemal.. [+] nemaline myopathy 5, Amish type; NEM5; Amish nemaline myopathy; ANM [-]	A nemaline myopathy that has_material_basis_in aut..[+] A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. [-]
Newfoundland cone-rod dystrophy	NFRCD	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. [-]
nephronophthisis 1	NPH1; NPHP1; juvenile nephronophthisis 1	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. [-]
nephronophthisis 2	NPH2; NPHP2; infantile nephronophthisis 2	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. [-]	2 articles	21 matches
nephronophthisis 3	NPHP3; NPH3	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. [-]
nephronophthisis 4	NPHP4; juvenile nephronophthisis 4	A nephronophthisis that has_material_basis_in muta..[+] A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. [-]
nephronophthisis 7	NPHP7	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. [-]
nephronophthisis-like nephropathy 1	NPHPL1	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. [-]
nephronophthisis 11	NPHP11	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. [-]
nephronophthisis 12	NPHP12	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. [-]
nephronophthisis 9	NPHP9	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. [-]
nephronophthisis 13	NPHP13	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. [-]
nephronophthisis 14	NPHP14	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1 [-]
nephronophthisis 15	NPHP15	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. [-]
nephronophthisis 16	NPHP16	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. [-]
nephronophthisis 18	NPHP18	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. [-]
nephronophthisis 19	NPHP19	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. [-]
nephronophthisis 20	NPHP20	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. [-]
neurofibromatosis 1	neurofibromatosis type I; NF1; familial spinal neu.. [+] NF1; neurofibromatosis type I; familial spinal neurofibromatosis; Peripheral Neurofibromatosis; von Recklinghausen Disease; FSNF; Recklinghausen's neurofibromatosis [-]	A neurofibromatosis characterized by multiple cafe..[+] A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. [-]	1 articles
NARP syndrome	Neuropathy-ataxia-retinitis pigmentosa syndrome; n.. [+] Neuropathy-ataxia-retinitis pigmentosa syndrome; neuropathy, ataxia and retinitis pigmentosa; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. [-]
Naegeli-Franceschetti-Jadassohn syndrome	NFJ syndrome; Naegeli syndrome	A ectodermal dysplasia characterized by reticulate..[+] A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. [-]
neurogenic scapuloperoneal syndrome Kaeser type	Kaeser syndrome; scapuloperoneal syndrome type Kae.. [+] Kaeser syndrome; scapuloperoneal syndrome type Kaeser; Stark-Kaeser syndrome; scapuloperoneal syndrome, neurogenic, Kaeser type [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
neurooculocardiogenitourinary syndrome	NOCGUS	A syndrome characterized by impaired growth and an..[+] A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. [-]
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 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 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 50	MRX50; X-linked mental retardation 50	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 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 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 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. [-]

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