| Metadata | |
|---|---|
| ID | DOID:0070149 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070149 Copy |
| Name | hereditary sensory and autonomic neuropathy type 7 |
| Definition | A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/24036948 |
| Xrefs |
SNOMEDCT_US_2025_09_01:783550006 |
| SKOS |
exactMatch NCI:C125388 exactMatch GARD:12732 exactMatch MIM:615548 exactMatch ORDO:391397 exactMatch UMLS_CUI:C3809882 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory and autonomic neuropathy type VII [EXACT] HSAN7 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has symptom some muscle weakness |