Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

Peters anomaly

Definitions

A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.

ID

http://purl.obolibrary.org/obo/DOID_0060673

database_cross_reference

ICD10CM:Q13.4

MESH:C537884

GARD:7377

OMIM:604229

ORDO:708

definition

A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.

has_obo_namespace

disease_ontology

id

DOID:0060673

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Peters anomaly

notation

DOID:0060673

prefLabel

Peters anomaly

subClassOf

http://purl.obolibrary.org/obo/DOID_10124

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0000659 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C537884 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU009219 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010162 Online Mendelian Inheritance in Man LOOM