Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

exudative vitreoretinopathy 1

Synonyms

EVR1

Definitions

An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.

ID

http://purl.obolibrary.org/obo/DOID_0111412

database_cross_reference

OMIM:133780

MESH:C536382

definition

An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2.

has exact synonym

EVR1

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0111412

label

exudative vitreoretinopathy 1

notation

DOID:0111412

prefLabel

exudative vitreoretinopathy 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050535

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

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http://purl.bioontology.org/ontology/OMIM/133780 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0007589 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C536382 Medical Subject Headings / 医学主题词表 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C175048 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM