Kenny-Caffey Syndrome Type 1

Preferred Label : Kenny-Caffey Syndrome Type 1;

Alternative definition : NICHD: 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.;

Details

Origin ID

C130992;

UMLS CUI

C1855648;

Currated CISMeF NLP mapping
- Autosomal recessive Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome type 1 [DO Concept]
- Kenny-Caffey syndrome, Type 1 [MeSH concept]
- Kenny-Caffey syndrome, type 1 [MeSH Supplementary Concept]
- Kenny-caffey syndrome, type 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Kenny-Caffey syndrome [ORDO Disease]
- Kenny-Caffey syndrome, Type 1 [MeSH concept]
- Kenny-Caffey syndrome, type 1 [MeSH Supplementary Concept]
- Kenny-caffey syndrome, type 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Kenny Caffey syndrome [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- TBCE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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