obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Anti-Potassium channel tetramerization domain-containing (KCTD)16 antibody #10545

Closed carolina-f closed 2 months ago

carolina-f commented 4 months ago

Preferred term label:

Synonyms Anti-KCTD16

Definition (free text, please give PubMed ID) The presence of autoantibodies in the serum that react against Potassium channel tetramerization domain-containing (KCTD)16.

PMID: 31009048 (....) Anti-GABABR encephalitis is a limbic encephalitis with prominent, severe seizures, but patients can also present with rapidly progressive dementia. The co-occurrence of KCTD16 antibodies points towards a paraneoplastic origin. The addition of KCTD16 improves the sensitivity of the cell-based assay

Parent term (use hpo.jax.org/app) Autoimmune antibody positivity HP:0030057

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) ORPHA:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies

Your nano-attribution (ORCID) 0009-0005-6714-5727

pnrobinson commented 2 months ago

@carolina-f Adding new term: