Human Disease Ontology

Last uploaded: June 28, 2024

Preferred Name	holoprosencephaly 2
Synonyms	HPE2
Definitions	A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.
ID	http://purl.obolibrary.org/obo/DOID_0110872
database_cross_reference	MESH:C563579 MIM:157170
definition	A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.
has exact synonym	HPE2
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110872
label	holoprosencephaly 2
notation	DOID:0110872
prefLabel	holoprosencephaly 2
subClassOf	http://purl.obolibrary.org/obo/DOID_4621 http://purl.obolibrary.org/obo/DOID_0050736

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110872	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0110872	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0110872	FNS-H	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007999	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0110872	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110872	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110872	FNS-H	LOOM
http://purl.bioontology.org/ontology/MESH/C563579	MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0007999	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C563579	RH-MESH	LOOM
http://identifiers.org/omim/157170	REXO	LOOM
http://identifiers.org/omim/157170	GEXO	LOOM
http://identifiers.org/omim/157170	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/157170	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_157170	CCO	LOOM