loading...| Preferred Name | Biotinidase Deficiency | |
| Synonyms |
Biotinidase Deficiencies Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, BTD Multiple Carboxylase Deficiency, Late Onset Deficiency, Biotinidase Late Onset Multiple Carboxylase Deficiency Late Onset Biotin Responsive Multiple Carboxylase Deficiency Deficiencies, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency BTD Deficiencies Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiencies, BTD |
|
| Definitions |
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D028921 |
|
| altLabel |
Biotinidase Deficiencies Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, BTD Multiple Carboxylase Deficiency, Late Onset Deficiency, Biotinidase Late Onset Multiple Carboxylase Deficiency Late Onset Biotin Responsive Multiple Carboxylase Deficiency Deficiencies, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency BTD Deficiencies Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiencies, BTD |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0220754 |
|
| DC |
1 |
|
| definition |
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. |
|
| DX |
20020101 |
|
| FX |
D001710 |
|
| HN |
2002 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2002 |
|
| Mapped from | ||
| MDA |
20010803 |
|
| MMR |
20130708 |
|
| MN |
C18.452.648.202.720.100 C16.320.565.100.620.100 C18.452.648.100.620.100 C16.320.565.202.720.100 |
|
| notation |
D028921 |
|
| prefLabel |
Biotinidase Deficiency |
|
| TERMUI |
T839330 T446812 T443038 T443037 T440282 T843583 T442104 T839331 |
|
| TH |
OMIM (2013) NLM (2002) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |