| 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. https://www.ncbi.nlm.nih.gov/pubmed/17458872, https://www.ncbi.nlm.nih.gov/pubmed/11815777, https://www.ncbi.nlm.nih.gov/pubmed/18536048, http://www.omim.org/entry/264470, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238069004 |
| SKOS |
exactMatch SNOMEDCT_US_2023_03_01:238069004 exactMatch NCI:C170437 exactMatch GARD:4543 exactMatch UMLS_CUI:C1849678 exactMatch ORDO:2971 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Peroxisomal acyl-coenzyme A oxidase [EXACT] |
| Parent Relationships |
is_a peroxisomal disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |