Fanconi anemia, complementation group M
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder_subtype
|
| gptkbp:associatedWith |
gptkb:FANCM
|
| gptkbp:characterizedBy |
increased cancer risk
bone marrow failure chromosomal instability |
| gptkbp:firstDescribed |
2007
|
| gptkbp:hasPhenotype |
developmental delay
congenital abnormalities progressive pancytopenia |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
14q21.2
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCM_gene
|
| gptkbp:OMIM |
610832
|
| gptkbp:partOf |
gptkb:Fanconi_anemia
|
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_group_M_protein
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia, complementation group M
|