peroxisomal acyl-CoA oxidase deficiency
peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy
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Summary
peroxisomal acyl-CoA oxidase deficiency is a rare disease[1]. It draws 35 Wikipedia views per month (rare disease category, ranking #237 of 627).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: peroxisomal disease[4], peroxisomal beta-oxidation disorder[5], peroxisomal disease with epilepsy[6]
- Prevalence: 0.000001[7]
- ICD-9-CM: 255.41[8]
- NCI Thesaurus ID: C170437[9]
- Health specialty: medical genetics[10]
- Genetic association: ACOX1[11]
- Age of onset: neonatal onset[12]
- Exact match: http://purl.obolibrary.org/obo/DOID_0050797[13], http://identifiers.org/doid/DOID:0050797[14], http://www.orpha.net/ORDO/Orphanet_2971[15]
- On focus list of Wikimedia project: WikiProject Medicine[16]
- Has phenotype: Q141815315[17], Severe mental retardation[18], sensorineural hearing loss[19], tooth agenesis[20], global developmental delay[21], gait abnormality[22], speech disorder[23], electroencephalography abnormalities[24], Q141816207[25], strabismus[26], pathologic nystagmus[27], failure to thrive[28], respiratory failure[29], hepatomegaly[30]
- P14914: D02971[31]
Why It Matters
peroxisomal acyl-CoA oxidase deficiency is known by 9 alternative names across languages and contexts.[32]