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MCID: PLD002
MIFTS: 18
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Pilodental Dysplasia with Refractive Errors
Categories:
Fetal diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Pilodental Dysplasia with Refractive Errors:
Characteristics:Orphanet epidemiological data:58
pilodental dysplasia-refractive errors syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2892DefinitionPilodental 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. Related phenotypes are wide nasal bridge and abnormality of the nail
More information from OMIM:
262020
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Diseases related to Pilodental Dysplasia with Refractive Errors via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Pilodental Dysplasia with Refractive Errors:
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Human phenotypes related to Pilodental Dysplasia with Refractive Errors:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:262020 (Updated 05-Mar-2021) |
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Articles related to Pilodental Dysplasia with Refractive Errors:
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Search
GEO
for disease gene expression data for Pilodental Dysplasia with Refractive Errors.
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