JSON

multiple carboxylase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0015454

Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. [ Orphanet:148 ]

Synonyms: multiple carboxylase deficiency MCD

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:857 (MONDO:equivalentTo)
  • GARD:3824 (Orphanet:148)
  • Orphanet:148 (MONDO:equivalentTo)
  • MESH:D009100 (Orphanet:148/e)
  • UMLS:C0026755 (Orphanet:148/e)
  • ICD10CM:D81.819 (MONDO:equivalentTo)
  • MedDRA:10028176 (Orphanet:148/e)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10028176

exactMatch

http://linkedlifedata.com/resource/umls/id/C0026755

http://www.orpha.net/ORDO/Orphanet_148

http://purl.obolibrary.org/obo/DOID_857

http://identifiers.org/mesh/D009100

http://purl.bioontology.org/ontology/ICD10CM/D81.819

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005093

id

MONDO:0015454