Search Ontology:
Human Disease

Mendez-Johnson immunoneurologic syndrome

Term ID
DOID:0070749
Synonyms
Definition
A syndrome characterized by failure to thrive with poor overall growth and additional highly variable features including immune dysregulation and neurologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the RNU6ATAC gene on chromosome 9q34. (2)
References
Ontology
Human Disease   ( DOID:0070749 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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