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 2A
A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)
Synonyms:
exact_synonym:
HSAN IIA; HSAN2A; HSN IIA; HSN2A; acroosteolysis, Giaccai type; hereditary sensory and autonomic neuropathy, type IIA; hereditary sensory neuropathy, type IIA; neurogenic acroosteolysis; progressive sensory neuropathy, of children
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA
ClinVar Annotator: match by OMIM:201300 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar Annotator: match by term: Neurogenic acroosteolysis ClinVar Annotator: match by OMIM:201300 ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE II ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type II