Human Disease Ontology

Last uploaded: June 2, 2024
Preferred Name

Peters anomaly

Synonyms
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

MESH:C537884

ICD10CM:Q13.4

GARD:7377

MIM: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/DOID_0060673 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0060673 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0060673 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060673 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011414 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011414 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537884 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU009219 OMIM LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010162 OMIM LOOM
http://purl.jp/bio/4/id/200906070042700554 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0344559 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_708 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2590 HRDO LOOM
http://purl.obolibrary.org/obo/HP_0000659 HP LOOM
http://purl.obolibrary.org/obo/HP_0000659 UPHENO LOOM
http://purl.obolibrary.org/obo/MONDO_0011414 DOVES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10059202 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_604229 CCO LOOM
http://www.gamuts.net/entity#Peters_anomaly GAMUTS LOOM
http://identifiers.org/omim/604229 REXO LOOM
http://identifiers.org/omim/604229 GEXO LOOM
http://identifiers.org/omim/604229 RETO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0317 IFAR LOOM
http://purl.obolibrary.org/obo/DOID_0060673 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060673 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060673 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060673 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00006581 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/C537884 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/P342100 RCTV2 LOOM