| Metadata | |
|---|---|
| ID | DOID:0070746 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070746 Copy |
| Name | HELIX syndrome |
| Definition | A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32. https://pubmed.ncbi.nlm.nih.gov/28771254/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1217380005 |
| SKOS |
exactMatch UMLS_CUI:C4522164 exactMatch GARD:0017967 exactMatch MIM:617671 exactMatch ORDO:528105 broadMatch ICD10CM:N25.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |