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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:hereditary folate malabsorption
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Accession:DOID:0111678 term browser browse the term
Definition:A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2. (DO)
Synonyms:exact_synonym: congenital defect of folate absorption;   congenital folate malabsorption;   folic acid transport defect
 primary_id: MESH:C562799
 alt_id: OMIM:229050
 xref: GARD:12983;   NCI:C156424;   ORDO:90045
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary folate malabsorption term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Hereditary Folate Malabsorption ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:20686069 NCBI chr10:65,742,343...65,766,050
Ensembl chr10:65,742,343...65,766,050
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by OMIM:229050
OMIM
ClinVar
CTD
PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 PMID:18559978 PMID:19176287 PMID:20686069 PMID:20795774 PMID:20805364 PMID:21333572 PMID:21346251 PMID:25741868 PMID:28492532 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Malabsorption Syndromes 119
        hereditary folate malabsorption 2
Path 2
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        acquired metabolic disease 2753
          nutrition disease 888
            Malnutrition 196
              nutritional deficiency disease 187
                Avitaminosis 112
                  Vitamin B Deficiency 69
                    folic acid deficiency anemia 4
                      hereditary folate malabsorption 2
paths to the root