Pilodental Dysplasia with Refractive Errors

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OMIM 56 262020 UMLS via Orphanet 72 C1849805 Orphanet 58 ORPHA2892

MedGen 41 C1849805 SNOMED-CT via HPO 68 17790008 238629004 249321001 25159003 254154003 258211005 38101003 402341008 64969001 81845009 8654005 more UMLS 71 C1849805

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2892 Definition Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pilodental Dysplasia with Refractive Errors, also known as trichodental dysplasia with hyperopia, is related to dowling-degos disease 1 and ringed hair. Affiliated tissues include skin, and related phenotypes are wide nasal bridge and abnormality of the nail

More information from OMIM: 262020

Clinical features from OMIM:

262020

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Search GEO for disease gene expression data for Pilodental Dysplasia with Refractive Errors.