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Drug Target Ontology
Last uploaded:
February 15, 2018
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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
| 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. |
|---|---|
| label |
pycnodysostosis
|
| prefLabel |
pycnodysostosis
|
| hasOBONamespace |
disease_ontology
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| prefixIRI |
DOID:0080038
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| subClassOf | |
| imported from | |
| type | |
| id |
DOID:0080038
|
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