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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:Rh-Null Disease, Amorph Type
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Accession:DOID:9003229 term browser browse the term
Definition:The amorph RH-null phenotype arises from mutations at the RH locus itself that silence Rh expression and cause mild to moderate hemolytic anemia. Red blood cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. (OMIM)
Synonyms:exact_synonym: RH-null, amorph type;   RHNA;   amorph type of RH-null phenotype
 related_synonym: BLOOD GROUP--RHESUS SYSTEM Cc/Ee POLYPEPTIDE;   RHESUS BLOOD GROUP, CcEe ANTIGENS
 primary_id: MESH:C566210
 alt_id: OMIM:111700;   OMIM:617970
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          congenital hemolytic anemia 138
            Rh-Null Disease, Amorph Type 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          anemia 417
            normocytic anemia 182
              hemolytic anemia 182
                congenital hemolytic anemia 138
                  Rh-Null Disease, Amorph Type 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.