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odonto-onycho-dermal dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.
Uniprot Description A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin.
Mondo Term and Equivalent IDs
MONDO:0009773:  odonto-onycho-dermal dysplasia
GARD:0004054: 
MESH:C537742: 
Orphanet:2721: 
SCTID:403762003: 
UMLS:C0796093: