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ONTOLOGY REPORT - ANNOTATIONS


Term:MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
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Accession:DOID:9004680 term browser browse the term
Definition:An X-linked recessive disorder with onset of features in early childhood. (OMIM)
Synonyms:primary_id: OMIM:300990;   RDO:9001678
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MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ammecr1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 JBrowse link X 114,129,829 114,233,013 RGD:8554872
RGD:7240710
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872
G Tmem164 transmembrane protein 164 JBrowse link X 113,947,355 114,110,064 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      hematopoietic system disease 1376
        hereditary elliptocytosis 8
          MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 3
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      Hemic and Lymphatic Diseases 1592
        hematopoietic system disease 1376
          anemia 369
            normocytic anemia 173
              hemolytic anemia 173
                congenital hemolytic anemia 123
                  hereditary elliptocytosis 8
                    MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.