Odontochondrodysplasia 1 (ODCD1)

Alias:

Goldblatt Syndrome

Odcd

Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta

Odontochondrodysplasia

Chondrodysplasia-Dentinogenesis Imperfecta-Joint Laxity Syndrome

Goldblatt Chondrodysplasia

Odcd1

Hypertension, Goldblatt

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Odontochondrodysplasia 1, also known as goldblatt syndrome, is related to cleidorhizomelic syndrome and odontochondrodysplasia 2 with hearing loss and diabetes, and has symptoms including respiratory distress An important gene associated with Odontochondrodysplasia 1 is TRIP11 (Thyroid Hormone Receptor Interactor 11). Affiliated tissues include bone and lung, and related phenotypes are short stature and joint hyperflexibility

Related ID：

MALACARDS：ODN025

OMIM：184260

MESH：D010009