Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

holoprosencephaly 3

Synonyms

HLP3

Definitions

A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.

ID

http://purl.obolibrary.org/obo/DOID_0110875

database_cross_reference

MESH:C564181

OMIM:142945

definition

A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36.

has exact synonym

HLP3

HPE3

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0110875

label

holoprosencephaly 3

notation

DOID:0110875

prefLabel

holoprosencephaly 3

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_4621

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http://purl.bioontology.org/ontology/MESH/C564181 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/142945 Online Mendelian Inheritance in Man LOOM