# Gamstorp-Wohlfart syndrome

> syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs

**Wikidata**: [Q18932745](https://www.wikidata.org/wiki/Q18932745)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Autosomal_recessive_axonal_neuropathy_with_neuromyotonia)  
**Source**: https://4ort.xyz/entity/gamstorp-wohlfart-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169567/MONDO_0007646)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169567/Orphanet_324442)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023