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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary sensory and autonomic neuropathy type 6
Summary
- Synonym
-
- HSAN6
- hereditary sensory and autonomic neuropathy type VI
- Definition
- A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12.
- Super Class
- autosomal recessive disease hereditary sensory neuropathy
External Links
- Disease Ontology
- DOID:0070151
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
