A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. [ NCIT:C142083 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:35656 (MONDO:equivalentTo)
  • MESH:C564403 (MONDO:equivalentTo)
  • NCIT:C142083 (MONDO:equivalentTo)
  • SCTID:724575009 (MONDO:equivalentTo)
  • DOID:0050730 (MONDO:equivalentTo)
  • OMIMPS:607426 (MONDO:equivalentTo)
  • UMLS:C1843920 (Orphanet:35656)
  • UMLS:CN229570 (MONDO:equivalentTo)
  • GARD:0010423 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_group_of_disorders

definition

A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C142083

http://identifiers.org/snomedct/724575009

http://linkedlifedata.com/resource/umls/id/CN229570

http://www.orpha.net/ORDO/Orphanet_35656

http://purl.obolibrary.org/obo/DOID_0050730

http://linkedlifedata.com/resource/umls/id/C1843920

http://identifiers.org/mesh/C564403

has exact synonym

CoQ10 deficiency

coenzyme Q10 deficiency disease

coenzyme Q10 deficiency, primary

has related synonym

CoQ10 deficiency, primary

id

MONDO:0018151

seeAlso

https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml