loading...| Preferred Name | ACROMESOMELIC DYSPLASIA 2A | |
| Synonyms |
ACHONDROGENESIS, BRAZILIAN AMD2A ACROMESOMELIC DYSPLASIA, GREBE TYPE AMDG GREBE DYSPLASIA GREBE CHONDRODYSPLASIA ACHONDROGENESIS, TYPE II, FORMERLY CHONDRODYSPLASIA, GREBE TYPE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/200700 |
|
| altLabel |
ACHONDROGENESIS, BRAZILIAN AMD2A ACROMESOMELIC DYSPLASIA, GREBE TYPE AMDG GREBE DYSPLASIA GREBE CHONDRODYSPLASIA ACHONDROGENESIS, TYPE II, FORMERLY CHONDRODYSPLASIA, GREBE TYPE |
|
| cui |
C0265260 |
|
| Gene Locus |
20q11.2 |
|
| Gene Symbol |
GDF5 CDMP1 SYNS2 SYM1B DUPANS OS5 BDA1C |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU014821 http://purl.bioontology.org/ontology/OMIM/MTHU014823 http://purl.bioontology.org/ontology/OMIM/MTHU014824 http://purl.bioontology.org/ontology/OMIM/MTHU014818 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU014817 http://purl.bioontology.org/ontology/OMIM/MTHU005891 http://purl.bioontology.org/ontology/OMIM/MTHU014815 http://purl.bioontology.org/ontology/OMIM/MTHU014816 http://purl.bioontology.org/ontology/OMIM/MTHU014822 http://purl.bioontology.org/ontology/OMIM/MTHU005888 http://purl.bioontology.org/ontology/OMIM/MTHU014820 http://purl.bioontology.org/ontology/OMIM/MTHU014827 http://purl.bioontology.org/ontology/OMIM/MTHU000602 http://purl.bioontology.org/ontology/OMIM/MTHU005890 http://purl.bioontology.org/ontology/OMIM/MTHU012189 http://purl.bioontology.org/ontology/OMIM/MTHU014819 http://purl.bioontology.org/ontology/OMIM/MTHU014825 http://purl.bioontology.org/ontology/OMIM/MTHU014814 http://purl.bioontology.org/ontology/OMIM/MTHU014757 http://purl.bioontology.org/ontology/OMIM/MTHU002571 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
200700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ACROMESOMELIC DYSPLASIA 2A |
|
| Scope Statement |
Increased frequency in the state of Bahia, Brazil [MISCELLANEOUS] Stillborn or death in infancy [MISCELLANEOUS] Allelic to acromesomelic dysplasia, Hunter-Thompson type (201250), brachydactyly, type C (113100), and fibular hypoplasia nd complex brachydactyly (228900) [MISCELLANEOUS] Caused by mutations in the growth/differentiation factor-5 gene (GDF5, 601146.0003) [MOLECULAR BASIS] Heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures [MISCELLANEOUS] |
|
| tui |
T047 |