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Human Disease Ontology
Last uploaded:
February 5, 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.
|
| 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
|
| database_cross_reference |
MESH:D058631
GARD:4611
MIM:265800
ORDO:763
|
| notation |
DOID:0080038
|
| in_subset | |
| id |
DOID:0080038
|
| has phenotype | |
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type |
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