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Preferred Name

FANCONI ANEMIA, COMPLEMENTATION GROUP R
Synonyms

FANCR
ID

http://purl.bioontology.org/ontology/OMIM/617244
altLabel

FANCR
cui

C4284093
Gene Locus

15q15.1
Gene Symbol

RECA

MRMV2

RAD51

FANCR
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU019019

http://purl.bioontology.org/ontology/OMIM/MTHU070344

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU035437

http://purl.bioontology.org/ontology/OMIM/MTHU056594

http://purl.bioontology.org/ontology/OMIM/MTHU056592

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU051758

http://purl.bioontology.org/ontology/OMIM/MTHU003335

http://purl.bioontology.org/ontology/OMIM/MTHU070343

http://purl.bioontology.org/ontology/OMIM/MTHU057613

http://purl.bioontology.org/ontology/OMIM/MTHU056587

http://purl.bioontology.org/ontology/OMIM/MTHU070342

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU056593

http://purl.bioontology.org/ontology/OMIM/MTHU056591

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU001447

http://purl.bioontology.org/ontology/OMIM/MTHU036342
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

617244
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FANCONI ANEMIA, COMPLEMENTATION GROUP R
Scope Statement

Two unrelated patients have been reported (last curated June 2020) [MISCELLANEOUS]

Onset in early childhood [MISCELLANEOUS]

Caused by mutation in the RAD51 recombinase gene (RAD51, 179617.0005) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111090 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0014986 Mondo Disease Ontology / Mondo疾病本体 LOOM