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:
expandinherited vitreous-retinal disease (MONDO:0020238)
Parent Node:
expandretinal degeneration (MONDO:0004580)
..Starting node
..expandinherited retinal dystrophy ()

       Child 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 ()



 Sister Nodes: 
..expandinherited retinal dystrophy ()
..expandmacular degeneration ()
..expandperipheral retinal degeneration ()
..expandretinoschisis ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19118
Name:inherited retinal dystrophy
Definition:An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:familial retinal dystrophy; fundus dystrophy; genetic retinal dystrophy; hereditary retinal degeneration; hereditary retinal dystrophy; retinal dystrophy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal