RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
hereditary sensory and autonomic neuropathy type 1
A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. (DO)
Synonyms:
exact_synonym:
HSAN1; hereditary sensory and autonomic neuropathy type I
ClinVar Annotator: match by term: Neuropathy hereditary sensory and autonomic type 1 ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IC ClinVar Annotator: match by OMIM:613640
ClinVar Annotator: match by term: Hereditary sensory neuropathy type 1D ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE ID ClinVar Annotator: match by OMIM:613708
ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE ClinVar Annotator: match by OMIM:614116 ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy
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