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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:X-linked properdin deficiency
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Accession:DOID:0111768 term browser browse the term
Definition:A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: CFPD;   PFD;   Properdin Deficiency, Type I;   Properdin Deficiency, Type II;   complement factor properdin deficiency;   properdin P factor deficiency;   properdin deficiency, type 1;   properdin deficiency, type III
 primary_id: MESH:C537241
 alt_id: MESH:C564075;   MESH:C564076;   OMIM:312060
 xref: GARD:9913;   ORDO:2966
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked properdin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfp complement factor properdin ISO ClinVar Annotator: match by OMIM:312060
ClinVar Annotator: match by null
ClinVar Annotator: match by term: PROPERDIN DEFICIENCY, TYPE III
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Properdin deficiency, X-linked
ClinVar
CTD
OMIM
PMID:3380115 PMID:7151327 PMID:8530058 PMID:8871668 PMID:10909851 NCBI chr  X:1,311,121...1,316,683
Ensembl chr  X:1,311,121...1,316,682
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        complement deficiency 32
          X-linked properdin deficiency 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            X-linked monogenic disease 1017
              X-linked recessive disease 379
                X-linked properdin deficiency 1
paths to the root