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Ontology Browser

Term:
Idiopathic Basal Ganglia Calcification 10 (DOID:9009265)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 10  
This disease is a progressive neurologic disorder characterized by motor dysfunction, speech impairment, and impaired cognition. It is caused by homozygous or compound heterozygous mutation in the mitochondrial cytidine monophosphate (UMP-CMP) kinase-2 gene (CMPK2) on chromosome 2p25.
Idiopathic Basal Ganglia Calcification 4  
Idiopathic Basal Ganglia Calcification 5  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
Idiopathic Basal Ganglia Calcification 8  
Idiopathic Basal Ganglia Calcification 9  
Idiopathic Basal Ganglia Calcification, Childhood Onset  
immunodeficiency 38  

Synonyms
Exact Synonyms: Basal ganglia calcification, idiopathic, 10, autosomal recessive ;   IBGC10
Xrefs: MIM:621018
Definition Sources: MIM:621018

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