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loading...| Preferred Name |
pycnodysostosis |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080038 |
| database_cross_reference |
ORDO:763 OMIM:265800 MESH:D058631 GARD:4611 |
| id |
DOID:0080038 |
| label |
pycnodysostosis |
| notation |
DOID:0080038 |
| prefLabel |
pycnodysostosis |
| textual definition |
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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |
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