Disease #00674

Official abbreviation -
Name dysplasia, bent bone syndrome (BBDS)
OMIM ID 614592
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene FGFR2
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00107908 - PubMed: Camacho-Vanegas 2012 - M - Australia - - 0 - - dysplasia, bent bone syndrome (BBDS) bone dysplasia; bone tumor MTAP MTAP 1 1 Johan den Dunnen
00107909 - PubMed: Camacho-Vanegas 2012 - M - - - - 0 - - dysplasia, bent bone syndrome (BBDS) bone dysplasia MTAP MTAP 1 1 Johan den Dunnen
00107910 - PubMed: Camacho-Vanegas 2012 - M - United States - - 0 - - dysplasia, bent bone syndrome (BBDS) bone dysplasia; bone tumor MTAP MTAP 1 1 Johan den Dunnen
00107911 - PubMed: Camacho-Vanegas 2012 - F - United States - - 0 - - dysplasia, bent bone syndrome (BBDS) bone dysplasia MTAP MTAP 1 1 Johan den Dunnen
00107912 - PubMed: Camacho-Vanegas 2012 - M - United States - - 0 - - dysplasia, bent bone syndrome (BBDS) bone dysplasia; bone tumor MTAP MTAP 1 1 Johan den Dunnen
Legend