pycnodysostosis
Information
- Disease name
- pycnodysostosis
- Disease ID
- DOID:0080038
- Description
- "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges." [url:http\://en.wikipedia.org/wiki/Pycnodysostosis]
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:4611
- Cross Reference ID (Disease Ontology)
- MESH:D058631
- Cross Reference ID (Disease Ontology)
- MIM:265800
- Cross Reference ID (Disease Ontology)
- ORDO:763
- OrphaNumber from OrphaNet (Orphanet)
- 763
- MeSH unique ID (MeSH (Medical Subject Headings))
- D058631