loading...| Preferred Name | Multiple Carboxylase Deficiency | |
| Synonyms |
Carboxylase Deficiency, Multiple Carboxylase Deficiency, Combined Deficiencies, Combined Carboxylase Carboxylase Deficiencies, Combined Combined Carboxylase Deficiency Combined Carboxylase Deficiencies Deficiencies, Multiple Carboxylase Deficiency, Multiple Carboxylase Carboxylase Deficiencies, Multiple Deficiency, Combined Carboxylase Multiple Carboxylase Deficiencies |
|
| Definitions |
A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009100 |
|
| altLabel |
Carboxylase Deficiency, Multiple Carboxylase Deficiency, Combined Deficiencies, Combined Carboxylase Carboxylase Deficiencies, Combined Combined Carboxylase Deficiency Combined Carboxylase Deficiencies Deficiencies, Multiple Carboxylase Deficiency, Multiple Carboxylase Carboxylase Deficiencies, Multiple Deficiency, Combined Carboxylase Multiple Carboxylase Deficiencies |
|
| 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 |
C0026755 |
|
| DC |
1 |
|
| definition |
A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. |
|
| DX |
19870101 |
|
| FX |
D001710 |
|
| HN |
87 |
|
| 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 |
87 |
|
| Mapped from | ||
| MDA |
19860418 |
|
| MMR |
20060705 |
|
| MN |
C18.452.648.100.620 C18.452.648.202.720 C16.320.565.100.620 C16.320.565.202.720 |
|
| notation |
D009100 |
|
| prefLabel |
Multiple Carboxylase Deficiency |
|
| TERMUI |
T027202 T027203 T027200 T027199 T027201 T027204 |
|
| TH |
NLM (1987) UNK (19XX) |
|
| tui |
T047 |
|
| subClassOf |