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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA
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Accession:DOID:9002124 term browser browse the term
Definition:This disease is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly.
Synonyms:exact_synonym: IMD100;   OAS1-RELATED CONDITION;   PAPHG;   PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
 primary_id: OMIM:618042


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IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OAS1 2'-5'-oligoadenylate synthetase 1 ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chr12:110,511,984...110,525,343
Ensembl chr12:113,896,760...113,921,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    Pathological Conditions, Signs and Symptoms 12047
      Pathologic Processes 7439
        Leukocytosis 27
          IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
Path 2
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      Immune & Inflammatory Diseases 5054
        immune system disease 4401
          primary immunodeficiency disease 3801
            lymphoproliferative syndrome 1007
              agammaglobulinemia 297
                IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
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