Agammaglobulinemia 5, autosomal dominant

Preferred Label : Agammaglobulinemia 5, autosomal dominant;

Symbol : AGM5;

CISMeF acronym : AGM5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal dominant, due to lrrc8a defect;

Inheritance : Autosomal dominant;

Prefixed ID : #613506;

Details

Origin ID

613506;

UMLS CUI

C3150753;

Automatic exact mappings (from CISMeF team)
- Isolated agammaglobulinemia [ORDO Disease]
- LRRC8A wt Allele [NCIt concept]
DO Cross reference
- agammaglobulinemia 5 [DO Concept]
Genes related to phenotype
- Leucine-rich repeat-containing protein 8a [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Epicanthus [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Low-set ears [HPO term]
ORDO concept(s)
- Autosomal agammaglobulinemia [ORDO Disease]
- Isolated agammaglobulinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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