Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

CACNA1A-related complex neurodevelopmental disorder
Synonyms
Definitions

A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.
ID

http://purl.obolibrary.org/obo/MONDO_0100254
definition

A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5753
id

MONDO:0100254
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#inferred_rare
label

CACNA1A-related complex neurodevelopmental disorder
notation

MONDO:0100254
preferred label

CACNA1A-related complex neurodevelopmental disorder
prefLabel

CACNA1A-related complex neurodevelopmental disorder
terms_creator

https://orcid.org/0000-0001-5208-3432
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100500

http://purl.obolibrary.org/obo/MONDO_0100516
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