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biotinidase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009665

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. [ Orphanet:79241 ]

Synonyms: late-onset multiple carboxylase deficiency deficiency of biotinidase biotinidase deficiency BTD deficiency juvenile-onset multiple carboxylase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:253260 (Orphanet:79241/e)
  • MESH:D028921 (Orphanet:79241/e)
  • NORD:857 (MONDO:NORD)
  • GARD:894 (Orphanet:79241)
  • ICD10CM:D81.810 (MONDO:equivalentTo)
  • NCIT:C84598 (MONDO:equivalentTo)
  • ICD9:277.6 (MONDO:relatedTo)
  • DOID:856 (MONDO:equivalentTo)
  • Orphanet:79241 (OMIM:253260)
  • MedDRA:10071434 (Orphanet:79241/e)
  • UMLS:C0220754 (Orphanet:79241/e)
  • SCTID:8808004 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10071434

exactMatch

http://purl.bioontology.org/ontology/ICD10CM/D81.810

http://identifiers.org/snomedct/8808004

http://identifiers.org/mesh/D028921

http://purl.obolibrary.org/obo/DOID_856

http://linkedlifedata.com/resource/umls/id/C0220754

https://omim.org/entry/253260

http://purl.obolibrary.org/obo/NCIT_C84598

http://www.orpha.net/ORDO/Orphanet_79241

has related synonym

late-onset biotin-responsive multiple carboxylase deficiency

biotin deficiency

multiple carboxylase deficiency, late-onset

multiple carboxylase deficiency, juvenile-onset

id

MONDO:0009665

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009665