Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617247 http://purl.bioontology.org/ontology/OMIM/617247
Preferred Name	FANCONI ANEMIA, COMPLEMENTATION GROUP U
Synonyms	FANCU
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FANCU
prefLabel	FANCONI ANEMIA, COMPLEMENTATION GROUP U
Gene Symbol	FANCU XRCC2 SPGF50 POF17
Scope Statement	Caused by mutation in the X-ray repair cross complementing 2 gene (XRCC2, 600375.0001) [MOLECULAR BASIS] Onset in early childhood [MISCELLANEOUS] Based on a report of one 2.5-years-old Saudi patient (last curated December 2016) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003740 http://purl.bioontology.org/ontology/OMIM/MTHU009058 http://purl.bioontology.org/ontology/OMIM/MTHU056598 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU006615 http://purl.bioontology.org/ontology/OMIM/MTHU038662 http://purl.bioontology.org/ontology/OMIM/MTHU056600 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU056596 http://purl.bioontology.org/ontology/OMIM/MTHU056593 http://purl.bioontology.org/ontology/OMIM/MTHU051758 http://purl.bioontology.org/ontology/OMIM/MTHU056599 http://purl.bioontology.org/ontology/OMIM/MTHU001720 See more See less
tui	T047
Gene Locus	7q36.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617247
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310651
OMIM Entry Type	3
OMIM MimType Value	pound

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