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holocarboxylase synthetase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009666

A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. [ Orphanet:79242 ]

Synonyms: early-onset multiple carboxylase deficiency neonatal multiple carboxylase deficiency biotin-(propionyl-CoA-carboxylase) ligase deficiency holocarboxylase synthase deficiency multiple carboxylase deficiency - neonatal onset holocarboxylase synthetase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:15307001 (MONDO:equivalentTo)
  • NCIT:C98842 (MONDO:equivalentTo)
  • Orphanet:79242 (OMIM:253270)
  • DOID:859 (MONDO:equivalentTo)
  • OMIM:253270 (Orphanet:79242/e)
  • GARD:2721 (Orphanet:79242)
  • ICD9:270.8 (MONDO:relatedTo)
  • SCTID:360369003 (MONDO:equivalentTo)
  • MESH:D028922 (Orphanet:79242/e)
  • UMLS:C0268581 (Orphanet:79242/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

comment

May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200

exactMatch

http://purl.obolibrary.org/obo/DOID_859

http://identifiers.org/mesh/D028922

http://identifiers.org/snomedct/15307001

https://omim.org/entry/253270

http://identifiers.org/snomedct/360369003

http://linkedlifedata.com/resource/umls/id/C0268581

http://www.orpha.net/ORDO/Orphanet_79242

http://purl.obolibrary.org/obo/NCIT_C98842

has broad synonym

multiple carboxylase deficiency

has related synonym

HLCS deficiency

multiple carboxylase deficiency, neonatal form

multiple carboxylase deficiency, early onset

id

MONDO:0009666

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009666

https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency