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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: HYPOTRANSFERRINEMIA, FAMILIAL TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1;   TFQTL1
 related_synonym: TRANSFERRIN VARIANT CHI
 primary_id: MESH:C538259;   RDO:0004215
 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 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
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
ClinVar Annotator: match by OMIM:209300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4625559 PMID:5711079 PMID:5927288 PMID:6585826 PMID:8317485 PMID:9272172 PMID:11110675 PMID:11703331 PMID:11920219 PMID:12111369 PMID:12752114 PMID:15060098 PMID:15466165 PMID:16398662 PMID:17768112 PMID:17809412 PMID:20029940 PMID:21665994 PMID:25741868 PMID:28492532 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        inherited metabolic disorder 2255
          metal metabolism disorder 118
            atransferrinemia 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                atransferrinemia 2
paths to the root