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nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Uniprot Description An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature.
Mondo Term and Equivalent IDs
MONDO:0014460:  nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Orphanet:423454: 
UMLS:C4014987: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found