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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:sideroblastic anemia 1
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Accession:DOID:0060063 term browser browse the term
Definition:A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO)
Synonyms:exact_synonym: ANH1;   Erythroid 5-Aminolevulinate Synthase Deficiency;   Hereditary Iron-Loading Anemia;   SIDBA1;   X chromosome-linked sideroblastic anemia;   X-linked pyridoxine-responsive sideroblastic anemia;   X-linked sideroblastic anaemia;   X-linked sideroblastic anemia;   XLSA;   congenital sideroblastic anaemia;   hereditary sideroblastic anemia;   sex-linked hypochromic sideroblastic anemia;   sideroblastic anaemia 1
 narrow_synonym: ANEMIA, HEREDITARY SIDEROBLASTIC 1, PYRIDOXINE REFRACTORY;   sideroblastic anaemia 1, late-onset
 broad_synonym: ALAS2-RELATED CONDITION
 primary_id: MESH:C536761
 alt_id: OMIM:300751
 xref: GARD:9456


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sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia		 OMIM
CTD
ClinVar
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035241, RGD:11035243, RGD:11035244 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      myelodysplastic syndrome 243
        Refractory Anemia 32
          sideroblastic anemia 21
            sideroblastic anemia 1 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          Hematologic Neoplasms 1050
            hematologic cancer 1050
              bone marrow cancer 509
                myelodysplastic syndrome 243
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      sideroblastic anemia 1 3
paths to the root