Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/609053
http://purl.bioontology.org/ontology/OMIM/609053
Preferred Name

FANCONI ANEMIA, COMPLEMENTATION GROUP I
Synonyms
FANCI
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
FANCI
prefLabel
FANCONI ANEMIA, COMPLEMENTATION GROUP I
Gene Symbol
KIAA1794
FANCI
Scope Statement
Caused by mutation in the FANCI gene (FANCI, 611360.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001686
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU068682
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU003459
http://purl.bioontology.org/ontology/OMIM/MTHU009058
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU020425
http://purl.bioontology.org/ontology/OMIM/MTHU058733
http://purl.bioontology.org/ontology/OMIM/MTHU036370
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU004590
http://purl.bioontology.org/ontology/OMIM/MTHU056518
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU008770
http://purl.bioontology.org/ontology/OMIM/MTHU037147
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU023263
http://purl.bioontology.org/ontology/OMIM/MTHU058725
http://purl.bioontology.org/ontology/OMIM/MTHU019488
http://purl.bioontology.org/ontology/OMIM/MTHU007642
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU058726
http://purl.bioontology.org/ontology/OMIM/MTHU004110
http://purl.bioontology.org/ontology/OMIM/MTHU058734
http://purl.bioontology.org/ontology/OMIM/MTHU014755
http://purl.bioontology.org/ontology/OMIM/MTHU005305
http://purl.bioontology.org/ontology/OMIM/MTHU015356
http://purl.bioontology.org/ontology/OMIM/MTHU012071
http://purl.bioontology.org/ontology/OMIM/MTHU003479
http://purl.bioontology.org/ontology/OMIM/MTHU007201
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU058730
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU058729
http://purl.bioontology.org/ontology/OMIM/MTHU058732
http://purl.bioontology.org/ontology/OMIM/MTHU058731
http://purl.bioontology.org/ontology/OMIM/MTHU058724
http://purl.bioontology.org/ontology/OMIM/MTHU058728
http://purl.bioontology.org/ontology/OMIM/MTHU004822
http://purl.bioontology.org/ontology/OMIM/MTHU011134
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU002670
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tui
T047
Gene Locus
15q25-q26
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
609053
Semantic type UMLS property
Has inheritance type
cui
C1836861
OMIM Entry Type
3
OMIM MimType Value
pound
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