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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary sensory neuropathy type 4
Summary
- Synonym
-
- hereditary sensory neuropathy type IV
- insensitivity to pain, congenital, with anhidrosis
- Definition
- A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.
- Super Class
- autosomal recessive disease hereditary sensory neuropathy
External Links
- Disease Ontology
- DOID:0070146
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30613 | Pyruvate kinase PKLR |
