achondrogenesis
Information
- Disease name
- achondrogenesis
- Disease ID
- DOID:0080043
- Description
- "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period." [url:http\://en.wikipedia.org/wiki/Achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001247.htm, url:http\://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis]
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:2882
- Cross Reference ID (Disease Ontology)
- MESH:C579878
- Cross Reference ID (Disease Ontology)
- MIM:PS200600
- OMIM Phenotype Series Number (OMIM)
- PS200600
- OrphaNumber from OrphaNet (Orphanet)
- 932
- ICD10 preferred id (Insert disease from ICD10)
- D0014059
- ICD10 class code (Insert disease from ICD10)
- Q77.0