loading...| Preferred Name | ACROMESOMELIC DYSPLASIA 2B | |
| Synonyms |
DUPANS DU PAN SYNDROME FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY AMD2B |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/228900 |
|
| altLabel |
DUPANS DU PAN SYNDROME FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY AMD2B |
|
| cui |
C1856738 |
|
| Gene Locus |
20q11.2 |
|
| Gene Symbol |
GDF5 CDMP1 SYNS2 SYM1B DUPANS OS5 BDA1C |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU008349 http://purl.bioontology.org/ontology/OMIM/MTHU013012 http://purl.bioontology.org/ontology/OMIM/MTHU009647 http://purl.bioontology.org/ontology/OMIM/MTHU013010 http://purl.bioontology.org/ontology/OMIM/MTHU013007 http://purl.bioontology.org/ontology/OMIM/MTHU013008 http://purl.bioontology.org/ontology/OMIM/MTHU015396 http://purl.bioontology.org/ontology/OMIM/MTHU013015 http://purl.bioontology.org/ontology/OMIM/MTHU013014 http://purl.bioontology.org/ontology/OMIM/MTHU013009 http://purl.bioontology.org/ontology/OMIM/MTHU013006 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
223610 |
|
| notation |
228900 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ACROMESOMELIC DYSPLASIA 2B |
|
| Scope Statement |
Heterozygotes may be unaffected or display a very mild phenotype [MISCELLANEOUS] Caused by mutation in the cartilage-derived morphogenetic protein-1 gene (CDMP1, 601146.0005) [MOLECULAR BASIS] |
|
| tui |
T047 |