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Metadata
ID	DOID:0070677
PURL	http://purl.obolibrary.org/obo/DOID_0070677 Copy Copied!
Name	Ferguson-Bonni neurodevelopmental syndrome
Definition	A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay that has_material_basis_in homozygous mutation in the ANAPC7 gene on chromosome 12q24. https://pmc.ncbi.nlm.nih.gov/articles/PMC8741739/
Xrefs	MIM:619699 UMLS_CUI:C5562065
SKOS	exactMatch UMLS_CUI:C5562065 exactMatch MIM:619699
Subsets	DO_rare_slim
Parent Relationships	is_a syndromic intellectual disability is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance