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Metadata
ID	DOID:0080722
Name	Kenny-Caffey syndrome type 1
Definition	A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/9806825/
Xrefs	GARD:8367 MIM:244460 ORDO:93324
Subsets	DO_rare_slim
Parent Relationships	is_a Kenny-Caffey syndrome is_a autosomal recessive disease