Fanconi anemia complementation group E

Fanconi anemia that has material basis in homozygous mutation in the FANCE gene on chromosome 6p22-p21
rdfs:label "Fanconi anemia complementation group E"@en
skos:altLabel "FACE"@en
"FANCE"@en
"FANCONI ANEMIA, COMPLEMENTATION GROUP E"@en
"FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE"@en
"Fanconi Anemia, Complementation Group type E"@en
"Fanconi anemia complementation group type E"@en
schema:description "Fanconi anemia that has material basis in homozygous mutation in the FANCE gene on chromosome 6p22-p21"@en
schema:dateModified "2026-07-05T11:05:07+00:00"^^xsd:dateTime
schema:version 2514102006
wikibase:identifiers 5
wikibase:sitelinks 0
wikibase:statements 16
p:P11430 wd:statement/Q32146907-78295a49-490a-27dd-464e-5387751b0ad2
p:P1748 wd:statement/Q32146907-c92a30f8-4472-194f-ff25-e5c26109e959
p:P2293 wd:statement/Q32146907-447F40C7-ECAF-4DAF-96FD-EB5704105827
p:P279 wd:statement/Q32146907-13432576-AF3A-488A-BCA1-428E848EF9E3
wd:statement/Q32146907-16518F1D-A4DA-40E6-A457-F9C8E9F3AEBF
wd:statement/Q32146907-CA133AC5-EC91-4F05-AC8F-3D7269773D8D
wd:statement/Q32146907-F69E133F-EB6B-4322-AC5E-FE1DF40A2C5F
p:P2888 wd:statement/Q32146907-87C8C48B-60B8-4A07-8E0E-6DD11CFD0B13
wd:statement/Q32146907-8E3C6063-088B-47B5-94D2-B21554090343
p:P2892 wd:statement/Q32146907-1E5D3866-5A74-48D1-9133-29639B68DC0D
p:P31 wd:statement/Q32146907-865EE74F-7120-44F2-B445-DFC41E71BAD2
wd:statement/Q32146907-8A1927DB-50E7-4D6E-98A8-F8541A7FBE8D
p:P492 wd:statement/Q32146907-AED55344-B562-4ED6-B827-F258D914C889
p:P5008 wd:statement/Q32146907-5C36B093-ABB7-4AF4-A0D6-7A1A5160D067
p:P5270 wd:statement/Q32146907-2BEEEEF2-392E-4CDC-B634-DE593BC31402
p:P699 wd:statement/Q32146907-83825DB1-9A72-4A44-86DB-31F3872C4C49
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010953>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0111084>
wdt:P11430 "DI-03117"
wdt:P1748 "C125709"
wdt:P2293 FANCE
wdt:P279 autosomal recessive disease
developmental defect during embryogenesis
Fanconi anemia
wdt:P2888 <http://identifiers.org/doid/DOID:0111084>
<http://purl.obolibrary.org/obo/DOID_0111084>
wdt:P2892 "C3160739"
wdt:P31 type of disease
rare disease
wdt:P492 "600901"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010953"
wdt:P699 "DOID:0111084"
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