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Health_ontology
Last uploaded:
July 4, 2024
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| Preferred Name | pycnodysostosis | |
| Synonyms |
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| 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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| ID |
http://purl.obolibrary.org/obo/DOID_0080038 |
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| database_cross_reference |
MESH:D058631 GARD:4611 MIM:265800 ORDO:763
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|
| 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.
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0080038
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| in_subset | ||
| label |
pycnodysostosis
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|
| notation |
DOID:0080038
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| prefLabel |
pycnodysostosis
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| subClassOf |
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