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ENTerminal Osseous Dysplasia (TOD)
Alias:
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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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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MALACARDS
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