Agammaglobulinemia 10, autosomal dominant

Preferred Label : Agammaglobulinemia 10, autosomal dominant;

Symbol : AGM10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal dominant, due to spi1 defect;

Prefixed ID : #619707;

Détails

Origin ID

619707;

UMLS CUI

C5676900;

Genes related to phenotype
- Spi1 protooncogene [OMIM gene]
HPO term(s)
- Absent circulating B cells [HPO term]
- Agammaglobulinemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Meningitis [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Transient neutropenia [HPO term]
- Type I diabetes mellitus [HPO term]
ORDO concept(s)
- Autosomal agammaglobulinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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