Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia

Preferred Label : Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia;

Symbol : IMD100;

CISMeF acronym : PAPHG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pulmonary alveolar proteinosis with hypogammaglobulinemia; PAPHG;

Inheritance : Autosomal dominant;

Prefixed ID : #618042;

Details

Origin ID

618042;

UMLS CUI

C4747984;

Genes related to phenotype
- 2-prime,5-prime-oligoadenylate synthetase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory insufficiency [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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