Disease association ontology term - MONDO:0009486 - autosomal recessive Kenny-Caffey syndrome

Term summary

ID

MONDO:0009486

Name

autosomal recessive Kenny-Caffey syndrome

Ontology or CV name

Disease association

Definition

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

Parents

• is_a autosomal recessive disease
• is_a Kenny-Caffey syndrome

Annotation