Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	keratosis palmoplantaris striata 3
Definitions	A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
ID	http://purl.obolibrary.org/obo/DOID_0081110
database_cross_reference	MESH:C536163 OMIM:607654
definition	A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0081110
label	keratosis palmoplantaris striata 3
notation	DOID:0081110
prefLabel	keratosis palmoplantaris striata 3
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0081105

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536163	Medical Subject Headings / 医学主题词表	LOOM
	http://purl.obolibrary.org/obo/MONDO_0011881	Mondo Disease Ontology / Mondo疾病本体	LOOM