Jump to:
loading...| Preferred Name |
Glutaric Acidemia I |
|
| Synonyms |
Glutaric aciduria 1 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536833 |
|
| altLabel |
Glutaric aciduria 1 Glutaric Aciduria I Glutaric Acidemia Type 1 Glutaric Acidemia Type I Glutaryl-CoA dehydrogenase deficiency Glutaric acidemia 1 |
|
| cui |
C0268595 |
|
| Has mapping qualifier | ||
| HM |
D050770/Q000172 D000592 D001928 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D001928 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
199 |
|
| MMR |
20150818 |
|
| notation |
C536833 |
|
| prefLabel |
Glutaric Acidemia I |
|
| SC |
3 |
|
| Scope Statement |
An autosomal recessive metabolic disorder characterized by GLIOSIS and neuronal loss in the BASAL GANGLIA, as well as a progressive movement disorder that usually begins during the first year of life. Germline mutations in the GCDH gene have been identified. OMIM: 231670 |
|
| TERMUI |
T740585 T801249 T801251 T841506 T841507 T740587 T740584 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |
Create mapping