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loading...| Preferred Name |
Glutaric Acidemia I |
| Synonyms |
Glutaric Acidemia Type I |
| ID |
http://purl.bioontology.org/ontology/MESH/C536833 |
| altLabel |
Glutaric Acidemia Type I Glutaric Aciduria I Glutaryl-CoA dehydrogenase deficiency Glutaric acidemia 1 Glutaric Acidemia Type 1 Glutaric aciduria 1 |
| cui |
C0268595 |
| Has mapping qualifier | |
| HM |
D050770/Q000172 D001928 D000592 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D001928 |
| MDA |
20100825 |
| MeSH Frequency |
126 |
| 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 |
T740584 T740585 T801249 T841507 T740587 T801251 T841506 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
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