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Metadata
ID DOID:0050797
Name peroxisomal acyl-CoA oxidase deficiency
Definition A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
http://www.omim.org/entry/264470, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971, https://www.ncbi.nlm.nih.gov/pubmed/11815777, https://www.ncbi.nlm.nih.gov/pubmed/17458872, https://www.ncbi.nlm.nih.gov/pubmed/18536048
Xrefs

GARD:4543

MESH:C536662

NCI:C170437

OMIM:264470

ORDO:2971

SNOMEDCT_US_2023_03_01:238069004

UMLS_CUI:C1849678

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Peroxisomal acyl-coenzyme A oxidase [EXACT]

Parent Relationships

is_a peroxisomal disease

is_a autosomal recessive disease

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