OBO ID: DOID:0111651 |
Term Name: | ectodermal dysplasia 15 | Search Ontology: | |
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Synonyms: |
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Definition: | An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. https://www.ncbi.nlm.nih.gov/pubmed/30425301 | ||
References: | |||
Ontology: | Human Disease ( DOID:0111651 ) |
OTHER ectodermal dysplasia 15 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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CST6 | ?Ectodermal dysplasia 15, hypohidrotic/hair type |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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