Human Disease Ontology

Last uploaded: June 28, 2024
Preferred Name

anterior segment dysgenesis 1

Synonyms
Definitions

An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.

ID

http://purl.obolibrary.org/obo/DOID_0080606

database_cross_reference

MIM:107250

definition

An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0080606

label

anterior segment dysgenesis 1

notation

DOID:0080606

prefLabel

anterior segment dysgenesis 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0060648

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

Delete Subject Author Type Created
No notes to display