Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/605724
http://purl.bioontology.org/ontology/OMIM/605724
Preferred Name

FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Synonyms
FANCD1
FAD1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
FANCD1
FAD1
prefLabel
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Gene Symbol
FANCD1
PNCA2
BROVCA2
BRCA2
GLM3
Scope Statement
Onset in infancy or early childhood [MISCELLANEOUS]
Caused by mutation in the BRCA2 DNA repair-associated protein gene (BRCA2, 600185.0009) [MOLECULAR BASIS]
Extreme sensitivity to chemotherapy [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU049774
http://purl.bioontology.org/ontology/OMIM/MTHU009585
http://purl.bioontology.org/ontology/OMIM/MTHU049771
http://purl.bioontology.org/ontology/OMIM/MTHU065650
http://purl.bioontology.org/ontology/OMIM/MTHU049770
http://purl.bioontology.org/ontology/OMIM/MTHU001447
http://purl.bioontology.org/ontology/OMIM/MTHU015745
http://purl.bioontology.org/ontology/OMIM/MTHU036682
http://purl.bioontology.org/ontology/OMIM/MTHU049772
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU049773
http://purl.bioontology.org/ontology/OMIM/MTHU051708
http://purl.bioontology.org/ontology/OMIM/MTHU008968
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU000145
See more
See less
tui
T047
Gene Locus
13q12.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
605724
Semantic type UMLS property
Has inheritance type
cui
C1838457
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display