Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Preferred Label : Hypoparathyroidism-Retardation-Dysmorphism Syndrome;

NCIt synonyms : Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay; Sanjad-Sakati Syndrome; HRDS; Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay.;

Details

Origin ID

C133727;

UMLS CUI

C1855840;

Automatic exact mappings (from CISMeF team)
- Sanjad-Sakati syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hypoparathyroidism-retardation-dysmorphism syndrome [MeSH concept]
- Hypoparathyroidism-retardation-dysmorphism syndrome [OMIM Phenotype]
- Sanjad Sakati syndrome (disorder) [SNOMED CT concept]
- Sanjad-Sakati syndrome [ORDO Disease]
- hypoparathyroidism-retardation-dysmorphism syndrome [MeSH Supplementary Concept]
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]
DO Cross reference
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]
See also inter- (CISMeF)
- tubulin folding cofactor E [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoparathyroidism-retardation-dysmorphism syndrome [OMIM Phenotype]
- Hypoparathyroidism-retardation-dysmorphism syndrome [MeSH concept]
- Sanjad Sakati syndrome (disorder) [SNOMED CT concept]
- Sanjad-Sakati syndrome [ORDO Disease]
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]
- hypoparathyroidism-retardation-dysmorphism syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TBCE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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