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tubulinopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0100153

A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene. [ MONDO:patterns/disease_series_by_gene https://clinicalgenome.org/affiliation/40006/ DOID:0112227 ]

Synonyms: tubulinopathy

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0112227 (MONDO:equivalentTo)
Subsets

clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5506

creator

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0112227

id

MONDO:0100153

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100153

Term relations