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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | biotinidase deficiency | |
| Synonyms |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase |
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_856 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| alternative label |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:8808004 ICD10CM:D81.810 OMIM:253260 UMLS_CUI:C0220754 MESH:D028921 GARD:894 NCI:C84598
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|
| 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].
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| has exact synonym |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:856
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| in_subset | ||
| label |
biotinidase deficiency
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|
| notation |
DOID:856
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|
| 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].
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| preferred label |
biotinidase deficiency
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| prefLabel |
biotinidase deficiency
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| subClassOf |
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