MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
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inherited retinal dystrophy (MONDO:0019118)
..Starting node
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genetic macular dystrophy ()

       Child Nodes:
........expandAICA-ribosiduria ()
........expandbenign concentric annular macular dystrophy ()
........expandcolobomatous and areolar dystrophy ()
........expandcone dystrophy ()
........expandEEM syndrome ()
........expandfamilial flecked retinopathy ()
........expandmacular corneal dystrophy ()
........expandmacular dystrophy, fenestrated sheen type ()
........expandmacular dystrophy, retinal, 3 ()
........expandmacular dystrophy, X-linked ()
........expandoccult macular dystrophy ()
........expandpatterned dystrophy of the retinal pigment epithelium ()
........expandretinal macular dystrophy type 2 ()
........expandunclassified primitive or secondary maculopathy ()
........expandvitelliform macular dystrophy ()



 Sister Nodes: 
..expandaceruloplasminemia ()
..expandage related macular degeneration 1 ()
..expandage related macular degeneration 10 ()
..expandage related macular degeneration 11 ()
..expandage related macular degeneration 12 ()
..expandage related macular degeneration 13 ()
..expandage related macular degeneration 14 ()
..expandage related macular degeneration 15 ()
..expandage related macular degeneration 2 ()
..expandage related macular degeneration 4 ()
..expandage related macular degeneration 5 ()
..expandage related macular degeneration 6 ()
..expandage related macular degeneration 7 ()
..expandage related macular degeneration 8 ()
..expandage related macular degeneration 9 ()
..expandAland island eye disease ()
..expandamaurosis-hypertrichosis syndrome ()
..expandautosomal recessive bestrophinopathy ()
..expandBothnia retinal dystrophy ()
..expanddystrophies primarily involving the retinal pigment epithelium ()
..expandectopia lentis-chorioretinal dystrophy-myopia syndrome ()
..expandfamilial benign flecked retina ()
..expandgenetic macular dystrophy ()
..expandhelicoid peripapillary chorioretinal degeneration ()
..expandinfantile cerebellar-retinal degeneration ()  LSDB  L: 00108;
..expandlate-onset retinal degeneration ()
..expandLeber congenital amaurosis ()
..expandmacular degeneration, age-related, 3 ()
..expandmacular degeneration, early-onset ()
..expandmicrocephaly and chorioretinopathy 1 ()
..expandmicrocephaly with or without chorioretinopathy, lymphedema, or mental retardation ()
..expandmicrocornea-myopic chorioretinal atrophy-telecanthus syndrome ()
..expandMORM syndrome ()
..expandMRCS syndrome ()
..expandoligocone trichromacy ()
..expandpigmented paravenous retinochoroidal atrophy ()
..expandprogressive bifocal chorioretinal atrophy ()
..expandprogressive retinal dystrophy due to retinol transport defect ()
..expandretinal degeneration-nanophthalmos-glaucoma syndrome ()
..expandretinal dystrophies primarily involving Bruch's membrane ()
..expandretinal dystrophy in systemic or cerebroretinal lipidoses ()
..expandretinal dystrophy with inner retinal dysfunction and ganglion cell anomalies ()
..expandretinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ()
..expandretinitis pigmentosa ()
..expandretinoschisis of fovea ()
..expandretinoschisis, autosomal dominant ()
..expandRevesz syndrome ()
..expandunclassified familial retinal dystrophy ()
..expandvitreoretinal dystrophy ()
..expandX-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome ()
..expandX-linked retinal dysplasia ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20242
Name:genetic macular dystrophy
Definition:Macular dystrophy that is related to a change in a gene.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:genetic macular dystrophy; genetic macular dystrophy (disease)
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal