Mondo Disease Ontology

Last uploaded: December 3, 2024
Preferred Name

complex neurodevelopmental disorder with motor features
Synonyms
Definitions

A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia. This term is similar to cerebral palsy, but this is for individuals who do not have a clinical diagnosis. There is a subset of cases that encompass both complex neurodevelopmental disorders and motor features.

ID

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

comment

This term is similar to cerebral palsy, but this is for individuals who do not have a clinical diagnosis. There is a subset of cases that encompass both complex neurodevelopmental disorders and motor features.

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0100516

definition

A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.

id

MONDO:0100516

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen

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

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

label

complex neurodevelopmental disorder with motor features

notation

MONDO:0100516

prefLabel

complex neurodevelopmental disorder with motor features

terms_creator

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

treeView

http://purl.obolibrary.org/obo/MONDO_0100038

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100038

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