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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Request for new term [Hemiplegic migraine-developmental and epileptic encephalopathy spectrum] #7195

Closed ARosselClinGen closed 7 months ago

ARosselClinGen commented 8 months ago

Label

hemiplegic migraine-developmental and epileptic encephalopathy spectrum

Synonyms

No response

Synonym type

None

Definition

A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.

Parent term

MONDO:0100062 developmental and epileptic encephalopathy, MONDO:0018925 familial or sporadic hemiplegic migraine

Children term(s)

No response

ORCID Identifier

No response

Website URL

https://clinicalgenome.org/affiliation/40005/

Additional comments

We are hoping to have two parent terms (listed in the Parent term field). This request is being submitted on behalf of the ClinGen Epilepsy Gene Curation Expert Panel, and is intended to capture the phenotypic spectrum associated with genes like ATP1A2 (PMIDs: 24096472, 18056581, 33880529).

CC: @ErinRiggs

nicolevasilevsky commented 7 months ago

will add with ROBOT template