Preferred Name |
Multiple Carboxylase Deficiency, Juvenile-Onset |
|
Synonyms |
|
|
ID |
http://purl.bioontology.org/ontology/MESH/C565365 |
|
cui |
C1854698 |
|
HM |
D009100 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20121105 |
|
MeSH Frequency |
0 |
|
notation |
C565365 |
|
prefLabel |
Multiple Carboxylase Deficiency, Juvenile-Onset |
|
SC |
3 |
|
Scope Statement |
mutation in the holocarboxylase synthetase gene |
|
TERMUI |
T806667 |
|
TH |
OMIM (2013) |
|
tui |
T047 |