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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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M
Disorder Name Genes Alternate Names OMIM Inheritance
Myopathy, Mitochondrial Anomalies, and Ataxia MSTO1 MMYAT 617675 autosomal dominant, autosomal recessive
Myopia 1, X-linked, Nonsyndromal MYP1 MYP1 310460 X-linked recessive
Myopia 2, Autosomal Dominant, Nonsyndromal multiple susceptibility loci extreme nearsightedness, MYP2 160700 autosomal dominant
Myopia 25, Autosomal Dominant, Nonsyndromic P4HA2 MYP25 617238 autosomal dominant
Myopia 26, X-Linked, Female-Limited ARR3 MYP26 301010 X-linked, female limited
Myopia and Deafness SLITRK6 DFNMYP 221200 autosomal recessive
Myopia, AR, with Cataracts and Vitreoretinal Degeneration LEPREL1 high myopia with cataract and vitreoretinal degeneration, MCVD 614292 autosomal recessive
Myotonic Dystrophy 1 DMPK DM1, Steinert disease, dystrophia myotonica, DM 160900 autosomal dominant
Myotonic Dystrophy 2 CNDB Ricker syndrome, proximal myotonic dystrophy, PROMM, DM2 602668 autosomal dominant
N
Disorder Name Genes Alternate Names OMIM Inheritance
Nance-Horan Syndrome NHS cataract-dental syndrome, X-linked cataract with Hutchinson teeth, mesiodens-cataract syndrome 302350, 302200 X-linked recessive, X-linked dominant
Nanophthalmos 1 11p locus NNO1 600165 autosomal dominant
Nanophthalmos 2 MFRP NNO2 609549 autosomal recessive, autosomal dominant
Nanophthalmos 3 2q11-q14 locus NNO3, nanophthalmia 3 611897 autosomal dominant
Nanophthalmos AD TMEM98 NNOAD autosomal dominant
Nanophthalmos Plus Syndrome MFRP autosomal recessive
Nanophthalmos with Retinitis Pigmentosa CRB1 autosomal recessive
Nanophthalmos with Retinopathy ? 267760 autosomal recessive
Nemaline Myopathy 10 LMOD3 NEM10 616165 autosomal recessive
Neu-Laxova Syndrome 1 PHGDH NLS, NLS1 256520 autosomal recessive
Neu-Laxova Syndrome 2 PSAT1 NLS, NLS2 616038 autosomal recessive
Neuhauser Syndrome ? MMR syndrome, megalocornea-mental retardation syndrome 249310 autosomal recessive
Neuraminidase Deficiency NEU1 myoclonus-cherry red spot syndrome, sialidosis type I, mucolipidosis I, ML 1, sialidosis type II, NEU1 deficiency 256550 autosomal recessive
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset SQSTM1 NADGP 617145 autosomal recessive
Neurodegeneration with Brain Iron Accumulation FTL, PLA2G6 Hallervorden-Spatz disease, NBIA2A, NBIA2B, NBIA3, Seitelberger disease, Karak syndrome, infantile neuroaxonal dystrophy, INAD1, INAD 256600, 610217 autosomal recessive
Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities GRIA4 NEDSGA 617864 autosomal dominant
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies PLAA NDMSBA 617527 autosomal recessive
Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis WARS2 NEMMLAS 617710 autosomal recessive
Neurofibromatosis Type I NF1 peripheral neurofibromatosis, von Recklinghausen disease 162200 autosomal dominant
Neurofibromatosis Type II NF2 central neurofibromatosis, acoustic schwannoma, acoustic neurinoma, ACN 101000 autosomal dominant
Neuronal Ceroid Lipofuscinoses PPT1, CTSD, TPP1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9, ATP13A2, MFSD8 neuronal ceroid lipofuscinosis, NCL, Batten disease, Vogt-Spielmeyer disease 256730, 204500, 256731, 601780, 610003, 204200, 609055, 610127, 204300, 610951, 606693 autosomal recessive, autosomal dominant
Neuropathy, Ataxia, and Retinitis Pigmentosa MTATP6 NARP syndrome 551500 mitochondrial
Niemann-Pick Disease, Type C2 NPC2 NPC2 607625 autosomal recessive
Niemann-Pick Disease, Types A and B SMPD1 sphingomyelin lipodosis, sphingomyelinase deficiency 257200, 607616 autosomal recessive
Niemann-Pick Disease, Types C1 (D) NPC1 Niemann-Pick disease Nova Scotian type, NPC, Niemann-Pick disease chronic neuronopathic form, Niemann-Pick disease with cholesterol esterification block 257220 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1A NYX X-linked CSNB, NBM1, night blindness with myopia, CSNB1A 310500 X-linked recessive
Night Blindness, Congenital Stationary, CSNB1B GRM6 CSNB, type 1B night blindness, CSNB1B 257270 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1C TRPM1 CSNB, type 1C night blindness with myopia, CSNB1C 613216 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1E GPR179 CSNB1E 614565 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1H GNB3 CSNB1H 617024 autosomal recessive
Night Blindness, Congenital Stationary, CSNB2A CACNA1F X-linked CSNB, type 2A night blindness with myopia, CSNB2, CSNB2A 300071 X-linked recessive
Displaying 441 - 480 of 695