fibrochondrogenesis
Information
- Disease name
- fibrochondrogenesis
- Disease ID
- DOID:0060465
- Description
- "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen." [url:https\://ghr.nlm.nih.gov/condition/fibrochondrogenesis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:2321
- Cross Reference ID (Disease Ontology)
- MESH:C562524
- Cross Reference ID (Disease Ontology)
- MIM:PS228520
- Cross Reference ID (Disease Ontology)
- ORDO:2021
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:17144009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265282
- OMIM Phenotype Series Number (OMIM)
- PS228520
- OrphaNumber from OrphaNet (Orphanet)
- 2021