Pycnodysostosis
Disease ID: disease_node_12600
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| Dbxref | GARD:4611, MESH:D058631, MIM:265800, ORDO:763 |
|---|---|
| Subclassof | DOID_2256, DOID_0050737 |
| Data Source | DOID, MESH |
| Mesh Id | D058631 |
| Mesh Label | Pycnodysostosis |
| Mesh Subclassof | D010009, D016464, D030342 |
| Doid Label | pycnodysostosis |
| Doid 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. |
| Has Phenotype | HP_0003510 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12600 |
| Doid Id | DOID_0080038 |
| Label | Pycnodysostosis |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)