Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

holoprosencephaly 1

Synonyms

HPE1

Definitions

A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.

ID

http://purl.obolibrary.org/obo/DOID_0110881

database_cross_reference

OMIM:236100

definition

A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.

has exact synonym

HPE1

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0110881

label

holoprosencephaly 1

notation

DOID:0110881

prefLabel

holoprosencephaly 1

subClassOf

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

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

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http://purl.bioontology.org/ontology/OMIM/236100 Online Mendelian Inheritance in Man LOOM