Orofaciodigital Syndrome V (OFD5)

Alias:

Ofd5

Thurston Syndrome

Polydactyly, Postaxial, with Median Cleft of Upper Lip

Orofaciodigital Syndrome, Thurston Type

Orofaciodigital Syndrome 5

Polydactyly Postaxial with Median Cleft of Upper Lip

Orofaciodigital Syndrome Thurston Type

Oral-Facial-Digital Syndrome, Type V

Oral-Facial-Digital Syndrome Type 5

Orofaciodigital Syndrome Type 5

Ofds V

Papillon-Leage and Psaume Syndrome

Orofaciodigital Syndrome, Type V

Oral-Facial-Digital Syndrome 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome V, also known as ofd5, is related to orofaciodigital syndrome i and microcephaly. An important gene associated with Orofaciodigital Syndrome V is DDX59 (DEAD-Box Helicase 59), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include tongue and bone, and related phenotypes are postaxial hand polydactyly and postaxial foot polydactyly

Related ID：

MALACARDS：ORF033

OMIM：174300

MESH：C557819