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BioAssay Ontology
Last uploaded:
January 17, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_0080038
http://purl.obolibrary.org/obo/DOID_0080038
|
|---|---|
| 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.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
pycnodysostosis
|
|---|---|
| prefLabel |
pycnodysostosis
|
| has cross-reference |
MESH:D058631
OMIM:265800
GARD:4611
ORDO:763
|
| notation |
DOID:0080038
|
| id |
DOID:0080038
|
| has_obo_namespace |
disease_ontology
|
| 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.
|
| subClassOf | |
| imported from | |
| type |
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