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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;   TF-RELATED CONDITION
 related_synonym: TRANSFERRIN VARIANT CHI
 primary_id: MESH:C538259
 alt_id: MIM: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 chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Tf transferrin ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia | ClinVar Annotator: match by term: TF-related condition
OMIM:209300 		OMIM
CTD
ClinVar
MouseDO		 PMID:4625559 PMID:5711079 PMID:5927288 PMID:6585826 PMID:8317485 More... NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          metal metabolism disorder 279
            atransferrinemia 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                atransferrinemia 2
paths to the root