loading...| Preferred Name |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 |
| Synonyms |
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/600121 |
| altLabel |
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY AGPS DEFICIENCY RCDP3 |
| cui |
C1838612 |
| Gene Locus |
2q31 |
| Gene Symbol |
AGPS ADHAPS RCDP3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000041 http://purl.bioontology.org/ontology/OMIM/MTHU006623 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU006617 http://purl.bioontology.org/ontology/OMIM/MTHU006620 http://purl.bioontology.org/ontology/OMIM/MTHU006622 http://purl.bioontology.org/ontology/OMIM/MTHU006618 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
600121 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 |
| Scope Statement |
Caused by mutation in the alkylglycerone-phosphate synthase gene (AGPS, 603051.0001) [MOLECULAR BASIS] |
| tui |
T047 |