OBO ID: DOID:0080722
Term Name: Kenny-Caffey syndrome type 1 Search Ontology:
Synonyms:
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/
References:
Ontology: Human Disease   ( DOID:0080722 )
OTHER Kenny-Caffey syndrome type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBCE Kenny-Caffey syndrome, type 1 244460
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None