loading...| Preferred Name |
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA |
| Synonyms |
OSCDP |
| ID |
http://purl.bioontology.org/ontology/OMIM/604864 |
| altLabel |
OSCDP NAMAQUALAND HIP DYSPLASIA NHD |
| cui |
C0432214 |
| Gene Locus |
12q13.11-q13.2 |
| Gene Symbol |
COL2A1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020328 http://purl.bioontology.org/ontology/OMIM/MTHU020332 http://purl.bioontology.org/ontology/OMIM/MTHU020330 http://purl.bioontology.org/ontology/OMIM/MTHU013088 http://purl.bioontology.org/ontology/OMIM/MTHU020329 http://purl.bioontology.org/ontology/OMIM/MTHU000885 http://purl.bioontology.org/ontology/OMIM/MTHU002713 http://purl.bioontology.org/ontology/OMIM/MTHU020331 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
120140.0006 |
| notation |
604864 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA |
| Scope Statement |
Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0003) [MOLECULAR BASIS] Onset of osteoarthritis in teens to early adulthood [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C565740 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C565740 | Medical Subject Headings / 医学主题词表 | LOOM |