primary coenzyme Q10 deficiency 4

primary coenzyme Q10 deficiency 4

http://purl.obolibrary.org/obo/DOID_0070241

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/18319072 ]

Synonyms: spinocerebellar ataxia, autosomal recessive 9 coenzyme Q10 deficiency, primary, 4 COQ10D4 SCAR9

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This is just here as a test because I lose it

Term information

database cross reference

MIM:612016
GARD:10294
ORDO:139485

Subsets

DO_rare_slim

acronym

SCAR9

acronym

COQ10D4

has obo namespace

disease_ontology

DOID:0070241

Term relations

Subclass of:

coenzyme Q10 deficiency disease
disease has basis in some structural_variant