" /> Odontochondrodysplasia 1 - CISMeF





Preferred Label : Odontochondrodysplasia 1;

Symbol : ODCD1;

CISMeF acronym : ODCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Goldblatt syndrome; Spondylometaphyseal dysplasia with dentinogenesis imperfecta; ODCD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 11 gene (TRIP11, 604505.0001);

Laboratory abnormalities : Abnormal electrophoretic mobility of type II collagen;

Prefixed ID : #184260;

Détails


Vous pouvez consulter :


Nous contacter.
27/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.