Human Disease Ontology 123

Last uploaded: September 28, 2023

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
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.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0080038
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	pycnodysostosis
notation	DOID:0080038
prefLabel	pycnodysostosis
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_2256

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D058631	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/265800	Online Mendelian Inheritance in Man	LOOM