Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Fanconi anemia complementation group D2

Synonyms

FA4

FAD2

FANCD2

Fanconi pancytopenia type 4

Definitions

A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.

ID

http://purl.obolibrary.org/obo/DOID_0111083

database_cross_reference

OMIM:227646

definition

A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.

has_exact_synonym

FA4

FAD2

FANCD2

Fanconi pancytopenia type 4

has_obo_namespace

disease_ontology

id

DOID:0111083

label

Fanconi anemia complementation group D2

notation

DOID:0111083

prefLabel

Fanconi anemia complementation group D2

treeView

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

subClassOf

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

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http://identifiers.org/omim/227646 RETO LOOM
http://identifiers.org/omim/227646 GEXO LOOM
http://identifiers.org/omim/227646 REXO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16023 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0111083 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0111083 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111083 NIFSTD SAME_URI
http://purl.bioontology.org/ontology/OMIM/227646 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0009214 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009214 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_121709 HORD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125706 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125706 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125706 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125706 NCIT LOOM