loading...| Preferred Name |
biotinidase deficiency |
|
| Synonyms |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency |
|
| Definitions |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009665 |
|
| altLabel |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency |
|
| definition |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
|
| has_exact_synonym |
late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency |
|
| has_related_synonym |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency |
|
| label |
biotinidase deficiency |
|
| prefixIRI |
MONDO:0009665 |
|
| prefLabel |
biotinidase deficiency |
|
| textual definition |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015653 http://purl.obolibrary.org/obo/MONDO_0015454 http://purl.obolibrary.org/obo/MONDO_0019213 http://purl.obolibrary.org/obo/MONDO_0017760 |