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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked adrenal hypoplasia congenita
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Accession:DOID:0080156 term browser browse the term
Definition:An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. (DO)
Synonyms:exact_synonym: AHC;   AHC WITH HHG;   AHC with Isolated Gonadotropin Deficiency;   AHCH;   AHX;   Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism;   Adrenal hypoplasia congenita;   Congenital adrenal hypoplasia;   X-linked Addison disease;   X-linked congenital adrenal hypoplasia;   cytomegalic adrenocortical hypoplasia
 primary_id: MESH:C536757
 alt_id: OMIM:300200;   RDO:0002437;   RDO:0015945
 xref: GARD:555
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X-linked adrenal hypoplasia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Fthl17e ferritin, heavy polypeptide-like 17, member E JBrowse link X 53,628,946 53,629,936 RGD:8554872
G Gk glycerol kinase JBrowse link X 54,227,291 54,303,897 RGD:8554872
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 JBrowse link X 55,439,388 57,004,865 RGD:8554872
G Mageb1 melanoma antigen family B, 1 JBrowse link X 54,892,482 54,931,144 RGD:8554872
G Mageb2 MAGE family member B2 JBrowse link X 54,804,987 54,806,956 RGD:8554872
G Mageb3 MAGE family member B3 JBrowse link X 54,843,202 54,844,197 RGD:8554872
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
RGD:7240710
G RGD1565785 similar to chromosome X open reading frame 21 JBrowse link X 54,390,733 54,409,466 RGD:8554872
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 JBrowse link X 54,035,958 54,090,282 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      endocrine system disease 4953
        adrenal gland disease 170
          Adrenal Insufficiency 95
            X-linked adrenal hypoplasia congenita 10
Path 2
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7801
        genetic disease 7294
          monogenic disease 4989
            X-linked monogenic disease 854
              X-linked recessive disease 212
                X-linked adrenal hypoplasia congenita 10
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.