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Metadata
ID DOID:856
Name biotinidase deficiency
Definition A multiple carboxylase deficiency that involves a deficiency in biotinidase.
http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241
Xrefs

GARD:894

ICD10CM:D81.810

MESH:D028921

NCI:C84598

OMIM:253260

SNOMEDCT_US_2020_09_01:8808004

UMLS_CUI:C0220754

Subsets

NCIthesaurus

Synonyms

BTD deficiency [EXACT]

deficiency of biotinidase [EXACT]

Juvenile-onset multiple carboxylase deficiency [EXACT]

Late-onset multiple carboxylase deficiency [EXACT]

Parent Relationships

is_a multiple carboxylase deficiency

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