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Rapp-Hodgkin syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.
Uniprot Description A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow-growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate.
Disease Ontology Description An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
Mondo Term and Equivalent IDs
MONDO:0007508:  Rapp-Hodgkin syndrome
GARD:0005690: 
MESH:C535289: 
SCTID:7731005: 
UMLS:CN203427: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)