Hereditary Sensory And Autonomic Neuropathy Type 7
Disease ID: disease_node_19425
Connections displayed (default: 10).
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| Dbxref | GARD:12723, ICD10CM:G60.8, MIM:615548, ORDO:391397 |
|---|---|
| Subclassof | DOID_0050548, DOID_0050736 |
| Data Source | DOID |
| Synonyms | HSAN7, hereditary sensory and autonomic neuropathy type VII |
| Doid Label | hereditary sensory and autonomic neuropathy type 7 |
| Doid Description | A hereditary sensory 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. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19425 |
| Doid Id | DOID_0070149 |
| Label | Hereditary Sensory And Autonomic Neuropathy Type 7 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)