Biotinidase Deficiency
Disease ID: disease_node_10986
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| Dbxref | GARD:894, ICD10CM:D81.810, MESH:D028921, MIM:253260, NCI:C84598, SNOMEDCT_US_2023_03_01:8808004, UMLS_CUI:C0220754 |
|---|---|
| Subclassof | DOID_857, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | BTD deficiency, Juvenile-onset multiple carboxylase deficiency, Late-onset multiple carboxylase deficiency, deficiency of biotinidase |
| Mesh Id | D028921 |
| Mesh Label | Biotinidase Deficiency |
| Mesh Subclassof | D009100 |
| Doid Label | biotinidase deficiency |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_10986 |
| Doid Id | DOID_856 |
| Label | Biotinidase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Carboxylase Deficiency(ID:disease_node_5280) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)