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Metadata
ID DOID:0070749
PURL http://purl.obolibrary.org/obo/DOID_0070749 Copy
Name Mendez-Johnson immunoneurologic syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/41864208/, https://pubmed.ncbi.nlm.nih.gov/41808409/
Xrefs

MIM:621585
SKOS

exactMatch MIM:621585
Subsets

DO_rare_slim
Parent Relationships

is_a syndrome

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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