Skip to main content

Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | Z

Reset

K
Disorder Name Genes Alternate Names OMIM Inheritance
Krabbe Disease GALC GLD, GCL, GALC deficiency, globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency 245200 autosomal recessive
Kufor-Rakeb Syndrome ATP13A2 RS, KRPPD, Parkinson disease 9 606693 autosomal recessive
L
Disorder Name Genes Alternate Names OMIM Inheritance
Lacrimal Puncta Agenesis IGSF3 nasolacrimal duct obstruction, absence of lacrimal puncta 149700 autosomal recessive
LCAT Deficiency LCAT fish eye disease, FED, dyslipoproteinemic corneal dystrophy, alpha-lecithin:cholesterol acyltransferase deficiency, alpha-LCAT deficiency, Norum disease, LCAT deficiency 245900, 136120 autosomal recesssive
Leber Congenital Amaurosis GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, PRPH2, CRB1, CEP290, IMPDH1, RD3, RDH12, LRAT, KCNJ13, NMNAT1, TULP1, GDF6 LCA, CRB, congenital retinal blindness 201000, 204100, 604232, 604393, 604537, 608553, 611755, 610612, 612712, 613341, 614186, 613843, 613826, 613829, 613835, 613837, 615360, 608133 autosomal recessive
Leber Congenital Amaurosis with Early-Onset Deafness TUBB4B LCAEOD 617879 autosomal dominant
Leber Optic Atrophy mtDNA Leber hereditary optic neuropathy, LHON, Leber optic neuropathy 535000 mitochondrial
LEOPARD Syndrome PTPN11 lentiginosis, cardiomyopathic multiple lentigines syndrome 151100 autosomal dominant
Leukodystrophy, Hypomyelinating, 13 C11ORF73 HLD13 616881 autosomal recessive
Leukodystrophy, Hypomyelinating, 15 EPRS HLD15 617951 autosomal recessive
Leukoencephalopathy with Vanishing White Matter EIF2B Cree leukoencephalopathy, CLE, VWM, childhood ataxia with central nervous system hypomyelinization, CACH, vanishing white matter leukodystrophy, CACH/VWM, ovarioleukodystrophy 603896 autosomal recessive
Lowe Oculocerebrorenal Syndrome OCRL OCRL1, Lowe syndrome 309000 X-linked recessive
Lymphedema-Distichiasis Syndrome FOXC2 lymphedema with distichiasis, LDS 153400 autosomal dominant
M
Disorder Name Genes Alternate Names OMIM Inheritance
Macrophthalmia, Colobomatous, with Microcornea CRIM, FEZ2 MACOM 602499 autosomal dominant
Macular Degeneration, Early-Onset FBN2 EOMD 616118 autosomal dominant
Macular Dystrophy with Central Cone Involvement MFSD8 CCMD 616170 autosomal recessive
Macular Dystrophy, Fenestrated Type ? 153890 autosomal dominant
Macular Dystrophy, North Carolina 6q14-q16.2 locus NCMD, MCDR1, central areolar pigment epithelial dystrophy, CAPED, central pigment epithelial and choroidal degeneration, central foveal dystrophy 136550 autosomal dominant
Macular Dystrophy, Occult RP1L1 occult macular dystrophy, central cone dystrophy, OCMD, OMD 613587 autosomal dominant
Macular Dystrophy, Patterned 1 PRPH2 butterfly-shaped macular dystrophy, reticular macular dystrophy, macroreticular macular dystrophy, choroidal neovascularization 169150 autosomal dominant
Macular Dystrophy, Patterned 2 CTNNA1 MDPT2, butterfly-shaped pigmentary macular dystrophy 2 608970 autosomal dominant
Macular Dystrophy, Patterned 3 MAPKAPK3 Martinique Crinkled Retinal Pigment Epitheliopathy, MDPT3 617111 autosomal dominant
Macular Dystrophy, Vitelliform 1 ? VMD1, atypical vitelliform macular dystrophy 153840 autosomal dominant
Macular Dystrophy, Vitelliform 2 BEST1, RDS Best vitelliform macular dystrophy, Best disease, bestrophinopathy, vitelliform dystrophy, VMD2 (formerly), early onset vitelliiform macular dystrophy 153700 autosomal dominant, autosomal recessive?
Macular Dystrophy, Vitelliform 3 PRPH2 adult-onset vitelliform macular dystrophy, AVMD, adult-onset foveomacular dystrophy, AOFMD, VMD3 608161 autosomal dominant
Macular Dystrophy, Vitelliform 4 IMPG1 VMD4 616151 autosomal recessive, autosomal dominant
Macular Dystrophy, Vitelliform 5 IMPG2 VMD5 616152 autosomal recessive, autosomal dominant
Macular Edema, Autosomal Dominant Cystoid 7p21-p15 locus MDDC, dominant cystoid macular edema, DCMD, cystoid macular dystrophy 153880 autosomal dominant
Majewski Syndrome NEK1, DYNC2H1 SRPS type II, polydactyly with neonatal chondrodystrophy type II, short rib-polydactyly syndrome type II 263520 autosomal recessive
Mandibulofacial Dysostosis with Alopecia EDNRA MFDA 616367 autosomal dominant
Manitoba Oculotrichoanal Syndrome FREM1 MOTA, Marles syndrome 248450 autosomal recessive
Mannosidosis, Alpha B MAN2B1 alpha-mannosidosis, alpha-mannosidase B deficiency 248500 autosomal recessive
Marfan Lipodystrophy Syndrome FBN1 MFLS, marfanoid-progeroid-lipodystrophy syndrome 616914 autosomal dominant
Marfan Syndrome FBN1 MFS1 154700 autosomal dominant
Marinesco-Sjogren Syndrome SIL1 MSS 248800 autosomal recessive
Maroteaux-Lamy Syndrome (MPS VI) ARSB mucopolysaccharidosis type VI, MPS6, arylsulfatase B deficiency, ARSB deficiency 253200 autosomal recessive
Marshall Syndrome COL11A1 MRSHS 154780 autosomal dominant, autosomal recessive?
McCune-Albright Syndrome GNAS polyostotic fibrous dysplasia, PFD, POFD 174800 ?
Meckel Syndrome multiple Meckel-Gruber syndrome, MKS, Gruber syndrome 249000 autosomal recessive
Meester-Loeys Syndrome BGN MRLS 300989 X-linked dominant
Displaying 361 - 400 of 695