| Metadata | |
|---|---|
| ID | DOID:0060354 |
| Name | Stormorken syndrome |
| Definition | A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. http://ghr.nlm.nih.gov/condition/stormorken-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/24619930, https://www.ncbi.nlm.nih.gov/pubmed/25577287 |
| Xrefs |
SNOMEDCT_US_2023_03_01:711407000 |
| Subsets |
DO_rare_slim |
| Synonyms |
thrombocytopathy, asplenia and miosis [EXACT] |
| Parent Relationships |