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HELIX syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617671
Orphanet:528105
UMLS:C4522164
MONDO:0060564
High level summary of knowledge for a disease, including descriptions and datasource references.