Clinical Disorder Search
Alphabetical List Grouped by Letter
| 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 |
| Megalocornea | CHRDL1 | MGC1 | 309300, 249300 | X-linked recessive |
| Megalocornea, Ectopia Lentis, and Spherophakia | LTBP2 | autosomal recessive | ||
| MELAS Syndrome | multiple | mitochondrial myopathy with encephalopathy and lactic acidosis and stroke-like episodes | 540000 | mitochondrial |
| Mental Retardation, AD 31 | PURA | PURO syndrome, MRD31 | 616758 | autosomal dominant |
| Mental Retardation, AD 34 | COL4A3BP | MRD34 | 616351 | autosomal dominant |
| Mental Retardation, AD 53 | CAMK2A | MRD53 | 617798 | autosomal dominant |
| Mental Retardation, AD 57 | TLK2 | MRD57 | 618050 | autosomal dominant |
| Mental Retardation, X-Linked 99, Syndromic, Female-Restricted | USP9X | MRXS99F | 300968 | X-linked dominant |
| Microcephaly 20, Primary, Autosomal Recessive | kif14 | MCPH20 | 617914 | autosomal recessive |
| Microcephaly, Congenital Cataracts, and Psoriasiform Dermatitis | SC4MOL | SC4MOL deficiency | 616834 | autosomal recessive |
| Microcoria, Congenital | 13q13-q32 locus | congenital miosis, MCOR | 156600 | autosomal dominant |
| Microcornea, Myopia, Telecanthus and Posteriorly-Rotated Ears | ADAMTS18 | MMCAT | autosomal recessive? | |
| Microphthalmia and Anophthalmia, ALDH1A3 Associated | ALDH1A3 | autosomal recessive |