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ENFocal Dermal Hypoplasia (FDH)
Alias:
Goltz Syndrome
Goltz-Gorlin Syndrome
Fodh
Fdh
Dhof
Hypoplasia, Dermal, Focal
Goltz Gorlin Syndrome
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Focal Dermal Hypoplasia, also known as goltz syndrome, is related to split hand-foot malformation and coloboma of macula. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and abnormality of the nail
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MALACARDS
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