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:
expandhereditary optic neuropathy (MONDO:0020249)
..Starting node
..expandsyndromic hereditary optic neuropathy ()

       Child Nodes:
........expand3-methylglutaconic aciduria type 3 ()  LSDB  L: 00496;
........expandAl Gazali Khidr Prem Chandran syndrome ()
........expandautosomal recessive optic atrophy, OPA7 type ()
........expandBehr syndrome ()
........expandc11orf73-related autosomal recessive hypomyelinating leukodystrophy ()
........expandc12orf65-related combined oxidative phosphorylation defect ()
........expandCAMOS syndrome ()
........expandcerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ()
........expandCharcot-Marie-Tooth disease X-linked recessive 5 ()
........expanddeafness dystonia syndrome ()  LSDB  L: 00113;
........expanddystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ()
........expandearly-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ()
........expandearly-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ()
........expandfatty acid hydroxylase-associated neurodegeneration ()
........expandgapo syndrome ()
........expandhereditary spastic paraplegia 2 ()
........expandhereditary spastic paraplegia 7 ()  LSDB  L: 00497;
........expandinfantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ()
........expandLeigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome ()  LSDB  L: 00525;
........expandmultiple mitochondrial dysfunctions syndrome 4 ()  LSDB  L: 00530;
........expandneurodegeneration with brain iron accumulation 4 ()  LSDB  L: 00422;
........expandneurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ()
........expandoptic atrophy 2 ()
........expandoptic atrophy-intellectual disability syndrome ()
........expandoptic atrophy-peripheral neuropathy-developmental delay syndrome ()
........expandPEHO syndrome ()
........expandPelizaeus-Merzbacher disease ()
........expandpolymicrogyria with optic nerve hypoplasia ()
........expandseptooptic dysplasia ()
........expandsevere X-linked intellectual disability, Gustavson type ()
........expandshort stature-optic atrophy-Pelger-HuC+t anomaly syndrome ()
........expandspastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder ()
........expandtremor-ataxia-central hypomyelination syndrome ()
........expandWolfram syndrome ()
........expandWolfram-like syndrome ()
........expandX-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ()



 Sister Nodes: 
..expandautosomal dominant optic atrophy ()
..expandautosomal dominant osteopetrosis 2 ()
..expandautosomal recessive optic atrophy ()
..expandautosomal recessive osteopetrosis ()
..expandfoveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome ()
..expandisolated optic nerve hypoplasia ()
..expandLeber hereditary optic neuropathy ()  LSDB  L: 00072;
..expandLeber plus disease ()
..expandmorning glory syndrome ()
..expandoptic nerve edema-splenomegaly syndrome ()
..expandsyndromic hereditary optic neuropathy ()
..expandsyndromic optic nerve hypoplasia ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18609
Name:syndromic hereditary optic neuropathy
Definition:A hereditary optic neuropathy that is part of a larger syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:syndrome associated with hereditary optic neuropathy; syndrome associated with hereditary optic neuropathy; syndromic hereditary optic neuropathy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal