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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 on chromosome 3q22. (DO)
Synonyms:exact_synonym: Congenital Atransferrinemia;   Familial hypotransferrinemia
 narrow_synonym: TFQTL1;   TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
 related_synonym: TRANSFERRIN VARIANT CHI
 primary_id: MESH:C538259
 alt_id: OMIM:209300
 xref: GARD:9595;   NCI:C125693;   ORDO:1195
For additional species annotation, visit the Alliance of Genome Resources.



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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 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Tf transferrin ISO ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia | ClinVar Annotator: match by term: Transferrin variant chi
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4625559 PMID:5711079 PMID:5927288 PMID:6585826 PMID:8317485 More... NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        inherited metabolic disorder 4673
          metal metabolism disorder 139
            atransferrinemia 2
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                atransferrinemia 2
paths to the root