Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Fanconi anemia complementation group T

Synonyms

FANCT

Definitions

A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.

ID

http://purl.obolibrary.org/obo/DOID_0111081

database_cross_reference

OMIM:616435

definition

A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.

has exact synonym

FANCT

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0111081

label

Fanconi anemia complementation group T

notation

DOID:0111081

prefLabel

Fanconi anemia complementation group T

subClassOf

http://purl.obolibrary.org/obo/DOID_13636

http://purl.obolibrary.org/obo/DOID_0050737

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http://purl.bioontology.org/ontology/OMIM/616435 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0014638 Mondo Disease Ontology / Mondo疾病本体 LOOM