Terminal Osseous Dysplasia (TOD)

Terminal Osseous Dysplasia(来自ICD-11)

别称:

Terminal Osseous Dysplasia-Pigmentary Defects Syndrome

Terminal Osseous Dysplasia and Pigmentary Defects

Todpd

Odpf Syndrome

Odpd

Tod

Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula

Digital Osseous Dysplasia with Facial Pigmentary Defects and Multiple Frenula

Terminal Osseous Dysplasia with Pigmentary Defects

Odpf

Terminal Osseous Dysplasia and Pigmentary Defect Syndrome

Osseous Dysplasia and Pigmentary Defects

Digitocutaneous Dysplasia

Dcd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Terminal Osseous Dysplasia, also known as todpd, is related to otopalatodigital syndrome, type ii and otopalatodigital syndrome, type i. An important gene associated with Terminal Osseous Dysplasia is FLNA (Filamin A), and among its related pathways/superpathways is NPHP1 deletion syndrome. Affiliated tissues include skin and bone, and related phenotypes are hyperpigmented papule and inclusion body fibromatosis

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