Kleefstra Syndrome

Preferred Label : Kleefstra Syndrome;

NCIt synonyms : Chromosome 9q34.3 Deletion Syndrome;

NCIt definition : A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features.;

Details

Origin ID

C129976;

UMLS CUI

C0795833;

Automatic exact mappings (from CISMeF team)
- Kleefstra syndrome [MedDRA Preferred Term]
- Kleefstra syndrome [OMIM phenotypic series]
- Kleefstra syndrome [DO Concept]
Currated CISMeF NLP mapping
- 9q34 deletion [ICD-11 More detail]
- Kleefstra Syndrome [DO Concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome [ICD-11 More detail]
- Kleefstra syndrome (disorder) [SNOMED CT concept]
- Kleefstra syndrome 1 [DO Concept]
- kleefstra syndrome [MeSH concept]
- kleefstra syndrome [MeSH Supplementary Concept]
DO Cross reference
- Kleefstra syndrome 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 9q34 deletion [ICD-11 More detail]
- Kleefstra Syndrome [DO Concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome (disorder) [SNOMED CT concept]
- Kleefstra syndrome 1 [DO Concept]
- Kleefstra syndrome 1 [OMIM Phenotype]
- Kleefstra syndrome due to 9q34 microdeletion [ORDO Disease]
- kleefstra syndrome [MeSH Supplementary Concept]
- kleefstra syndrome [MeSH concept]
Validated automatic mappings to BTNT
- Kleefstra syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 9 [NCIt concept]
disease_mapped_to_gene
- EHMT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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