Preferred Name

Fanconi Anemia, Complementation Group D1

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125705

code

C125705

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

Fanconi anemia caused by mutations of the BRCA2 gene.

FULL_SYN

Fanconi Anemia, Complementation Group D1

label

Fanconi Anemia, Complementation Group D1

Preferred_Name

Fanconi Anemia, Complementation Group D1

prefixIRI

Thesaurus:C125705

prefLabel

Fanconi Anemia, Complementation Group D1

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18120

Semantic_Type

Disease or Syndrome

UMLS_CUI

C1838457

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62505

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C563980 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0111089 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/605724 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0011584 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011584 Experimental Factor Ontology / 实验性因素本体 LOOM