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Ontology Browser
Term:
autosomal dominant optic atrophy plus syndrome (EFO:MONDO:0014720)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
auditory neuropathy-optic atrophy syndrome 
autosomal dominant optic atrophy and peripheral neuropathy 
autosomal dominant optic atrophy plus syndrome +  
Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.
autosomal dominant optic atrophy, classic form 
Bjornstad syndrome 
ethylmalonic encephalopathy 
GRACILE syndrome 
hereditary myopathy with lactic acidosis due to ISCU deficiency 
inborn mitochondrial metabolism disorder +  
maternally-inherited cardiomyopathy and hearing loss 
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 
optic atrophy 3 
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
pure mitochondrial myopathy 
X-linked sideroblastic anemia with ataxia 

Synonyms
Exact Synonyms: DOA+ ;   DOID:0111340 ;   Orphanet:1215 ;   http://identifiers.org/snomedct/715374003 ;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1149710475 ;   optic atrophy type 8 ;   optic atrophy-deafness-polyneuropathy-myopathy syndrome
Related Synonyms: Treft-Sanborn-Carey syndrome ;   dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy ;   optic atrophy - deafness- polyneuropathy - myopathy
Alternate IDs: MONDO:0014720
Xrefs: DOID:0111340 ;   GARD:5243 ;   ORDO:1215 ;   SCTID:715374003 ;   icd11.foundation:1149710475
Definition Sources: Orphanet:1215

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