" /> Digital clubbing, isolated congenital - CISMeF





Preferred Label : Digital clubbing, isolated congenital;

Symbol : DIGC;

CISMeF acronym : DIGC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acropachy, hereditary; Clubbing of digits;

Description : Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx (Myers and Farquhar, 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hydroxyprostaglandin dehydrogenase 15-(NAD) gene (HPGD, 119900.0004);

Prefixed ID : #119900;

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05/05/2025


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