loading...| Preferred Name |
biotinidase deficiency |
|
| Synonyms |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_856 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:8808004 ICD10CM:D81.810 UMLS_CUI:C0220754 MESH:D028921 GARD:894 MIM:253260 NCI:C84598 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:856 |
|
| in_subset | ||
| label |
biotinidase deficiency |
|
| notation |
DOID:856 |
|
| note |
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]. |
|
| preferred label |
biotinidase deficiency |
|
| prefLabel |
biotinidase deficiency |
|
| subClassOf |