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 |