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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
auditory neuropathy-optic atrophy syndrome 
autosomal dominant optic atrophy plus syndrome +  
Bjornstad syndrome 
Bonnemann-Meinecke-Reich syndrome 
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 
encephalitis/encephalopathy, mild, with reversible myelin vacuolization 
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 
encephalopathy, porphyria-related 
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy +  
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 
encephalopathy, progressive, with amyotrophy and optic atrophy 
ethylmalonic encephalopathy 
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
familial acute necrotizing encephalopathy 
familial encephalopathy with neuroserpin inclusion bodies 
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-ataxia-peripheral neuropathy-global developmental delay syndrome 
pure mitochondrial myopathy 
severe neonatal-onset encephalopathy with microcephaly 
severe neurodegenerative syndrome with lipodystrophy 
X-linked sideroblastic anemia with ataxia 

Synonyms
Exact Synonyms: DOID:0060640 ;   Orphanet:51188 ;   http://identifiers.org/medgen/355966 ;   http://identifiers.org/mesh/C535737 ;   http://identifiers.org/snomedct/723307008 ;   http://linkedlifedata.com/resource/umls/id/C1865349 ;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1966714550 ;   https://omim.org/entry/602473
Related Synonyms: EE ;   EPEMA syndrome ;   eme ;   encephalopathy, petechiae, and ethylmalonic aciduria ;   syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Alternate IDs: MONDO:0011229
Xrefs: DOID:0060640 ;   GARD:2198 ;   MEDGEN:355966 ;   MESH:C535737 ;   MIM:602473 ;   ORDO:51188 ;   SCTID:723307008 ;   UMLS:C1865349 ;   icd11.foundation:1966714550
see_also: https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy" xsd:anyURI {source="GARD:0002198
Definition Sources: Orphanet:51188

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