Disease #01254

Official abbreviation -
Name Digital clubbing, isolated congenital
OMIM ID 119900
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HPGD
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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     
00117590 - - unaffected carrier relative (Fam3-I:1) M - Netherlands Caucasian - 0 - - Digital clubbing, isolated congenital 21y-clubbing of finger and toes SLCO2A1 SLCO2A1 1 2 Jirko Kühnisch
Legend