Warsaw breakage syndrome

Preferred Label : Warsaw breakage syndrome;

Symbol : WABS;

CISMeF acronym : WABS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DEAD/H-box helicase 11 gene (DDX11, 601150.0001);

Prefixed ID : #613398;

Details

Origin ID

613398;

UMLS CUI

C3150658;

Automatic exact mappings (from CISMeF team)
- DEAD/H-box helicase 11 [ORDO Gene]
- DEAD/H-box helicase 11 [HGNC gene]
Currated CISMeF NLP mapping
- Warsaw Breakage Syndrome [NCIt concept]
- Warsaw breakage syndrome [DO Concept]
- Warsaw breakage syndrome [Disease (Nov.)]
- Warsaw breakage syndrome [ICD-11 More detail]
- Warsaw breakage syndrome [ORDO Disease]
- Warsaw breakage syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Warsaw breakage syndrome [DO Concept]
Genes related to phenotype
- Dead/h-box helicase 11 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Cupped ear [HPO term]
- Cutis marmorata [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hypoplasia of the cochlea [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Optic disc coloboma [HPO term]
- Psychomotor retardation [HPO term]
- Single transverse palmar crease [HPO term]
- Sloping forehead [HPO term]
- Small face [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Warsaw breakage syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Warsaw Breakage Syndrome [NCIt concept]
- Warsaw breakage syndrome [ORDO Disease]
- Warsaw breakage syndrome [DO Concept]
- Warsaw breakage syndrome [Disease (Nov.)]
- Warsaw breakage syndrome (disorder) [SNOMED CT concept]

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