Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Fanconi anemia complementation group I

Synonyms

FANCI

Definitions

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.

ID

http://purl.obolibrary.org/obo/DOID_0111091

database_cross_reference

OMIM:609053

definition

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.

has exact synonym

FANCI

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0111091

label

Fanconi anemia complementation group I

notation

DOID:0111091

prefLabel

Fanconi anemia complementation group I

subClassOf

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

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

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129026 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0012186 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012186 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/609053 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C563802 Medical Subject Headings / 医学主题词表 LOOM