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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;   MBL2-RELATED CONDITION;   MBLD;   MBP Deficiency;   Mannose-Binding Lectin Deficiency;   Mannose-Binding Lectin Protein Deficiency
 primary_id: MESH:C563602
 alt_id: MIM:614372


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Mannose-Binding Protein Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbl2 mannose binding lectin 2 ISO ClinVar Annotator: match by term: MBL2-related condition | ClinVar Annotator: match by term: Mannose-binding lectin deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1303250 PMID:1304173 PMID:1458688 PMID:1675710 PMID:7707811 More... NCBI chr 1:228,016,439...228,024,736 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Nutritional and Metabolic Diseases 8546
      disease of metabolism 8546
        inherited metabolic disorder 6627
          Mannose-Binding Protein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Immune & Inflammatory Diseases 5759
        immune system disease 5077
          primary immunodeficiency disease 4483
            complement deficiency 49
              Lectin Complement Activation Pathway Defects 3
                Mannose-Binding Protein Deficiency 1
paths to the root