FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kenny-Caffey syndrome type 1 ID (Ontology) DOID:0080722 (Human Disease)
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.
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 Genes
 Kenny-Caffey syndrome type 1       1
 for disease ribbon | Kenny-Caffey syndrome type 1       1
 model of | Kenny-Caffey syndrome type 1       1
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
osteochondrodysplasia            |
 |__Kenny-Caffey syndrome________|
 |__Kenny-Caffey syndrome________|
                                 Kenny-Caffey syndrome type 1  1 rec.
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Is a autosomal recessive disease
Kenny-Caffey syndrome
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Synonyms
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GARD:8367
MIM:244460
ORDO:93324