primary coenzyme Q10 deficiency 7

primary coenzyme Q10 deficiency 7

http://purl.obolibrary.org/obo/DOID_0070244

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/25658047 ]

Synonyms: COQ4-related neonatal encephalomyopathy neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome COQ10D7 coenzyme Q10 deficiency, primary, 7

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Term information

database cross reference

MIM:616276
ORDO:457185

Subsets

DO_rare_slim

acronym

COQ10D7

has obo namespace

disease_ontology

DOID:0070244

Term relations

Subclass of:

coenzyme Q10 deficiency disease
disease has basis in some structural_variant