Warsaw Breakage Syndrome

Preferred Label : Warsaw Breakage Syndrome;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DDX11 gene, encoding ATP-dependent DNA helicase DDX11. It is characterized by severe intellectual disability and variable dysmorphic features.;

Details

Origin ID

C164675;

UMLS CUI

C3150658;

Automatic exact mappings (from CISMeF team)
- DEAD/H-box helicase 11 [HGNC gene]
- DEAD/H-box helicase 11 [ORDO Gene]
Currated CISMeF NLP mapping
- Warsaw breakage syndrome [ORDO Disease]
- Warsaw breakage syndrome [OMIM Phenotype]
- Warsaw breakage syndrome [ICD-11 More detail]
- Warsaw breakage syndrome [DO Concept]
- Warsaw breakage syndrome [Disease (Nov.)]
- Warsaw breakage syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Warsaw breakage syndrome [ORDO Disease]
- Warsaw breakage syndrome [OMIM Phenotype]
- Warsaw breakage syndrome [DO Concept]
- Warsaw breakage syndrome [Disease (Nov.)]
- Warsaw breakage syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DDX11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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