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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:atransferrinemia
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Accession:DOID:0050649 term browser browse the term
Definition:A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO)
Synonyms:exact_synonym: Congenital Atransferrinemia;   Familial hypotransferrinemia
 related_synonym: TRANSFERRIN VARIANT CHI
 primary_id: MESH:C538259
 alt_id: OMIM:209300
 xref: GARD:9595;   NCI:C125693;   ORDO:1195


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atransferrinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAMP hepcidin antimicrobial peptide treatment ISO RGD PMID:20956801 RGD:11041615 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861 		JBrowse link
G TF transferrin ISO ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia OMIM
ClinVar		 PMID:4625559 PMID:5711079 PMID:5927288 PMID:6585826 PMID:8317485 More... NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15684
    Nutritional and Metabolic Diseases 7197
      disease of metabolism 7197
        inherited metabolic disorder 5570
          metal metabolism disorder 241
            atransferrinemia 2
Path 2
Term Annotations click to browse term
  disease 15684
    Developmental Disease 13610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12664
        genetic disease 12314
          monogenic disease 10309
            autosomal genetic disease 9500
              autosomal recessive disease 6631
                atransferrinemia 2
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