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Rapp-Hodgkin syndrome
Summary
- Synonym
-
- RHS
- anhidrotic ectodermal dysplasia with cleft lip/palate
- ectodermal dysplasia syndrome, Rapp-Hodgkin type
- ectodermal dysplasia, Rapp-Hodgkin type
- Definition
- An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
- Super Class
- autosomal dominant disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0060330
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBM7 | 7-dehydrocholesterol reductase |
