obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Anti-Neuronal Nuclear Antibody type-3 #10544

Open carolina-f opened 1 month ago

carolina-f commented 1 month ago

Preferred term label:

Synonyms Anti-DACH1 Anti-Neuronal Nuclear Antibody-type 3 (ANNA3) Anti-Dachshund-homolog 1 autoantibody

Definition (free text, please give PubMed ID) The presence of autoantibodies in the serum that react against Dachshund-homolog 1 (DACH1) autoantigen

PMID: 35150165 The antigen specificity of Anti-Neuronal Nuclear Antibody-type 3 (ANNA3)-IgG is unknown. We identified Dachshund-homolog 1 (DACH1) as the ANNA3 autoantigen and confirmed it by antigen-specific assays, immunohistochemical colocalization and immune absorption experiments.

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 ORPHA:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies

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