Search Ontology:
Human Disease
ectodermal dysplasia 1
- Term ID
- DOID:0111664
- Synonyms
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- Christ-Siemens-Touraine syndrome
- CST syndrome
- ectodermal dysplasia 1, anhidrotic
- ectodermal dysplasia 1, hypohidrotic, X-linked
- ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
- ED1
- HED1
- hypohidrotic ectodermal dysplasia, X-Linked
- X-linked anhidrotic ectodermal dysplasia
- XHED
- XLHED
- Definition
- A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. https://www.ncbi.nlm.nih.gov/pubmed/8434608
- References
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- MESH:D053358
- MIM:305100
- NCI:C84562
- ORDO:181
- SNOMEDCT_US_2023_03_01:239007005
- UMLS_CUI:C0162359
- Ontology
- Human Disease ( DOID:0111664 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models