FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FAD1

http://purl.bioontology.org/ontology/OMIM/605724

FAD1

FANCD1

C1838457

13q12.3

BROVCA2

PNCA2

FANCD1

GLM3

BRCA2

http://purl.bioontology.org/ontology/OMIM/MTHU049771

http://purl.bioontology.org/ontology/OMIM/MTHU008968

http://purl.bioontology.org/ontology/OMIM/MTHU065650

http://purl.bioontology.org/ontology/OMIM/MTHU051708

http://purl.bioontology.org/ontology/OMIM/MTHU015745

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU001305

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

http://purl.bioontology.org/ontology/OMIM/MTHU049772

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU049770

http://purl.bioontology.org/ontology/OMIM/MTHU036682

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

http://purl.bioontology.org/ontology/OMIM/MTHU009585

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

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

Phenotype description, molecular basis known.

605724

3

pound

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

Caused by mutation in the BRCA2 DNA repair-associated protein gene (BRCA2, 600185.0009) [MOLECULAR BASIS]

Extreme sensitivity to chemotherapy [MISCELLANEOUS]

Onset in infancy or early childhood [MISCELLANEOUS]

T047