loading...| Preferred Name |
ACHONDROGENESIS, TYPE II |
|
| Synonyms |
ACG2 CHONDROGENESIS IMPERFECTA HYPOCHONDROGENESIS ACHONDROGENESIS, TYPE IB, FORMERLY ACHONDROGENESIS, LANGER-SALDINO TYPE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/200610 |
|
| altLabel |
ACG2 CHONDROGENESIS IMPERFECTA HYPOCHONDROGENESIS ACHONDROGENESIS, TYPE IB, FORMERLY ACHONDROGENESIS, LANGER-SALDINO TYPE |
|
| cui |
C0542428 C0220685 |
|
| Gene Locus |
12q13.11-q13.2 |
|
| Gene Symbol |
COL2A1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU005319 http://purl.bioontology.org/ontology/OMIM/MTHU014340 http://purl.bioontology.org/ontology/OMIM/MTHU014837 http://purl.bioontology.org/ontology/OMIM/MTHU014836 http://purl.bioontology.org/ontology/OMIM/MTHU006837 http://purl.bioontology.org/ontology/OMIM/MTHU000596 http://purl.bioontology.org/ontology/OMIM/MTHU014838 http://purl.bioontology.org/ontology/OMIM/MTHU006913 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU027607 http://purl.bioontology.org/ontology/OMIM/MTHU014833 http://purl.bioontology.org/ontology/OMIM/MTHU005373 http://purl.bioontology.org/ontology/OMIM/MTHU014840 http://purl.bioontology.org/ontology/OMIM/MTHU014841 http://purl.bioontology.org/ontology/OMIM/MTHU010717 http://purl.bioontology.org/ontology/OMIM/MTHU014835 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
200720 200710 |
|
| notation |
200610 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ACHONDROGENESIS, TYPE II |
|
| Scope Statement |
Most cases result from de novo mutations [MISCELLANEOUS] Stillborn or death shortly after birth [MISCELLANEOUS] Hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum [MISCELLANEOUS] Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0002) [MOLECULAR BASIS] |
|
| tui |
T019 |