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tooth and nail syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
Uniprot Description A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected.
Disease Ontology Description A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
Mondo Term and Equivalent IDs
MONDO:0008582:  tooth and nail syndrome
GARD:0005587: 
MESH:C536736: 
NCIT:C40553: 
Orphanet:2228: 
SCTID:400036004: 
UMLS:C0406735: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)