| Metadata | |
|---|---|
| ID | DOID:856 |
| Name | biotinidase deficiency |
| Definition | A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241 |
| Xrefs |
SNOMEDCT_US_2023_03_01:8808004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
BTD deficiency [EXACT] deficiency of biotinidase [EXACT] Juvenile-onset multiple carboxylase deficiency [EXACT] Late-onset multiple carboxylase deficiency [EXACT] |
| Parent Relationships |