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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:Mannose-Binding Protein Deficiency
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Accession:DOID:9000431 term browser browse the term
Synonyms:exact_synonym: LCAPD1;   LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1;   MBL Deficiency;   MBL2 Deficiency;   MBLD;   MBP Deficiency;   Mannose-Binding Lectin Deficiency;   Mannose-Binding Lectin Protein Deficiency
 primary_id: MESH:C563602
 alt_id: OMIM:614372
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Nutritional and Metabolic Diseases 8324
      disease of metabolism 8324
        inherited metabolic disorder 6274
          Mannose-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Immune & Inflammatory Diseases 5897
        immune system disease 5108
          primary immunodeficiency disease 4504
            complement deficiency 46
              Lectin Complement Activation Pathway Defects 4
                Mannose-Binding Protein Deficiency 1
paths to the root