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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:Myotonia Congenita, Autosomal Dominant
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Accession:DOID:9001336 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition:A nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. (OMIM)
Synonyms:exact_synonym: THD;   THOMSEN DISEASE;   Thomsen Generalized Myotonia;   Thomsen's Disease;   Thomsens disease;   congenital myotonia, autosomal dominant form;   generalized myotonia of Thomsen
 alt_id: RDO:0008077
 replaced_by: DOID:0081336


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