Lymphedema, primary, with myelodysplasia

Preferred Label : Lymphedema, primary, with myelodysplasia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Emberger syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-2 gene (GATA2, 137295.0009);

Neoplasia : Leukemia, acute myeloid;

Prefixed ID : #614038;

Details

Origin ID

614038;

UMLS CUI

C3279664;

Automatic exact mappings (from CISMeF team)
- Deafness, lymphoedema and leukaemia syndrome [ICD-11 More detail]
- Emberger Syndrome [MeSH concept]
- GATA2 Deficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Deafness-lymphedema-leukemia syndrome [ORDO Disease]
- Emberger syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Gata-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cellulitis [HPO term]
- Epicanthus [HPO term]
- Hypotelorism [HPO term]
- Leukemia [HPO term]
- Long fingers [HPO term]
- Lymphedema [HPO term]
- Myelodysplasia [HPO term]
- Pancytopenia [HPO term]
- Tapered finger [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Deafness-lymphedema-leukemia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-lymphedema-leukemia syndrome [ORDO Disease]
- Emberger syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients