MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandunclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node
..expandcone-rod dystrophy ()

       Child Nodes:
........expandcone dystrophy 3 ()
........expandcone-rod dystrophy 1 ()
........expandcone-rod dystrophy 10 ()
........expandcone-rod dystrophy 11 ()
........expandcone-rod dystrophy 12 ()
........expandcone-rod dystrophy 13 ()
........expandcone-rod dystrophy 15 ()
........expandcone-rod dystrophy 16 ()
........expandcone-rod dystrophy 17 ()
........expandcone-rod dystrophy 18 ()
........expandcone-rod dystrophy 19 ()
........expandcone-rod dystrophy 2 ()
........expandcone-rod dystrophy 20 ()
........expandcone-rod dystrophy 21 ()
........expandcone-rod dystrophy 3 ()
........expandcone-rod dystrophy 5 ()
........expandcone-rod dystrophy 6 ()
........expandcone-rod dystrophy 7 ()
........expandcone-rod dystrophy 8 ()
........expandcone-rod dystrophy 9 ()
........expandLeber congenital amaurosis 4 ()
........expandmacular degeneration, X-linked atrophic ()
........expandNewfoundland cone-rod dystrophy ()
........expandretinal cone dystrophy 4 ()
........expandX-linked cone-rod dystrophy ()



 Sister Nodes: 
..expandautosomal dominant osteopetrosis 2 ()
..expandBardet-Biedl syndrome ()
..expandcone-rod dystrophy ()
..expandcongenital hypotrichosis with juvenile macular dystrophy ()
..expandcystoid macular edema ()
..expandenhanced S-cone syndrome ()
..expandFarber lipogranulomatosis ()
..expandfoveal hypoplasia-presenile cataract syndrome ()
..expandgalactosialidosis ()
..expandGM1 gangliosidosis ()
..expandHermansky-Pudlak syndrome 2 ()
..expandinfantile Refsum disease ()
..expandKrabbe disease ()
..expandLaurence-Moon syndrome ()
..expandLeigh disease ()
..expandmetachromatic leukodystrophy ()
..expandmucolipidosis type IV ()
..expandneuronal ceroid lipofuscinosis ()
..expandNiemann-Pick disease type C ()
..expandRubinstein-Taybi syndrome ()
..expandSjogren-Larsson syndrome ()
..expandSorsby's fundus dystrophy ()
..expandX-linked retinoschisis ()
..expandZellweger syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15993
Name:cone-rod dystrophy
Definition:Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:cone rod dystrophy; cone-rod retinal dystrophy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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