loading...| Preferred Name |
biotinidase deficiency |
|
| Synonyms |
late-onset biotin-responsive multiple carboxylase deficiency biotin deficiency multiple carboxylase deficiency, juvenile-onset multiple carboxylase deficiency, late-onset BTD deficiency biotinidase deficiency juvenile-onset multiple carboxylase deficiency late-onset multiple carboxylase deficiency deficiency of biotinidase |
|
| 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 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10071434 NANDO:1200822 ICD10CM:D81.810 NCIT:C84598 MEDGEN:66323 Orphanet:79241 OMIM:253260 UMLS:C0220754 MESH:D028921 SCTID:8808004 DOID:856 GARD:894 ICD9:277.6 NORD:857 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/medgen/66323 http://identifiers.org/mesh/D028921 http://purl.obolibrary.org/obo/NCIT_C84598 http://purl.bioontology.org/ontology/ICD10CM/D81.810 http://linkedlifedata.com/resource/umls/id/C0220754 http://purl.obolibrary.org/obo/DOID_856 |
|
| has_exact_synonym |
BTD deficiency biotinidase deficiency juvenile-onset multiple carboxylase deficiency late-onset multiple carboxylase deficiency deficiency of biotinidase |
|
| has_related_synonym |
late-onset biotin-responsive multiple carboxylase deficiency biotin deficiency multiple carboxylase deficiency, juvenile-onset multiple carboxylase deficiency, late-onset |
|
| id |
MONDO:0009665 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
biotinidase deficiency |
|
| notation |
MONDO:0009665 |
|
| preferred label |
biotinidase deficiency |
|
| prefLabel |
biotinidase deficiency |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015454 |