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Metadata
ID DOID:0061070
Name immunodeficiency 100
Definition A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24.
https://pubmed.ncbi.nlm.nih.gov/34145065/
Xrefs

MIM:618042

Synonyms

immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

is_a lung disease

Subclass Logical Relationships

disease has location some lung

existence starts during some Infantile onset

has material basis in some autosomal dominant inheritance

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