Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	erythrokeratodermia variabilis et progressiva 1
Definitions	An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
ID	http://purl.obolibrary.org/obo/DOID_0111195
database_cross_reference	OMIM:133200
definition	An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148 http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111195
label	erythrokeratodermia variabilis et progressiva 1
notation	DOID:0111195
prefLabel	erythrokeratodermia variabilis et progressiva 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_0050467

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/133200	Online Mendelian Inheritance in Man	LOOM