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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: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;   X-linked Addison disease;   X-linked congenital adrenal hypoplasia;   adrenal hypoplasia congenita;   congenital adrenal hypoplasia;   congenital adrenal hypoplasia with hypogonadotropic hypogonadism;   cytomegalic adrenocortical hypoplasia
 primary_id: MESH:C536757
 alt_id: MIM:300200
 xref: GARD:555


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X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004936553:6,707,148...6,787,245 JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004936553:5,063,042...5,824,427
Ensembl chrNW_004936553:6,055,179...6,099,514
JBrowse link
G LOC101958683 ferritin heavy chain ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004936553:7,117,118...7,117,669 JBrowse link
G Nr0b1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked OMIM
ClinVar
PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chrNW_004936553:6,436,371...6,440,141
Ensembl chrNW_004936553:6,436,371...6,440,141
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004936553:6,860,435...6,917,796
Ensembl chrNW_004936553:6,860,261...6,885,475
JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chrNW_004936553:6,628,131...6,629,027
Ensembl chrNW_004936553:6,628,131...6,629,027
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      endocrine system disease 5862
        adrenal gland disease 251
          Adrenal Insufficiency 170
            X-linked adrenal hypoplasia congenita 7
Path 2
Term Annotations click to browse term
  disease 14638
    Developmental Disease 12844
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12086
        genetic disease 11806
          monogenic disease 10133
            X-linked monogenic disease 1331
              X-linked recessive disease 812
                X-linked adrenal hypoplasia congenita 7
paths to the root