Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

FANCONI ANEMIA, COMPLEMENTATION GROUP D2

Synonyms

FANCD2

ID

http://purl.bioontology.org/ontology/OMIM/227646

altLabel

FANCD2

FACD

FANCD

FANCONI ANEMIA, COMPLEMENTATION GROUP D

FA4

FANCONI PANCYTOPENIA, TYPE 4

FAD2

cui

C3160738

Gene Locus

3p25.3

Gene Symbol

FACD

FANCD

FANCD2

FAD

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU003459

http://purl.bioontology.org/ontology/OMIM/MTHU053655

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

http://purl.bioontology.org/ontology/OMIM/MTHU009001

http://purl.bioontology.org/ontology/OMIM/MTHU001136

http://purl.bioontology.org/ontology/OMIM/MTHU049774

http://purl.bioontology.org/ontology/OMIM/MTHU053646

http://purl.bioontology.org/ontology/OMIM/MTHU036549

http://purl.bioontology.org/ontology/OMIM/MTHU001427

http://purl.bioontology.org/ontology/OMIM/MTHU053649

http://purl.bioontology.org/ontology/OMIM/MTHU053648

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU010007

http://purl.bioontology.org/ontology/OMIM/MTHU053645

http://purl.bioontology.org/ontology/OMIM/MTHU000565

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

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU006613

http://purl.bioontology.org/ontology/OMIM/MTHU053652

http://purl.bioontology.org/ontology/OMIM/MTHU004828

http://purl.bioontology.org/ontology/OMIM/MTHU053647

http://purl.bioontology.org/ontology/OMIM/MTHU034183

http://purl.bioontology.org/ontology/OMIM/MTHU000816

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU049773

http://purl.bioontology.org/ontology/OMIM/MTHU002823

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU053650

http://purl.bioontology.org/ontology/OMIM/MTHU053651

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU039307

http://purl.bioontology.org/ontology/OMIM/MTHU053654

http://purl.bioontology.org/ontology/OMIM/MTHU008966

http://purl.bioontology.org/ontology/OMIM/MTHU053653

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU008662

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

227646

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

FANCONI ANEMIA, COMPLEMENTATION GROUP D2

Scope Statement

Caused by mutation in the Fanconi anemia, complementation group D2 gene (FANCD2, 613984.0001) [MOLECULAR BASIS]

tui

T047

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