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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, muscular dystrophy ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747
JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:84,293,283...84,313,897
Ensembl chr  X:84,293,285...84,313,894
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 chr  X:84,745,543...84,820,425
Ensembl chr  X:84,745,543...84,820,425
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 chr  X:85,784,543...87,159,554
Ensembl chr  X:85,784,476...87,159,251
JBrowse link
G LOC108444576 Nr0b1 5' regulatory region ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:85,230,648...85,235,410 JBrowse link
G Mageb4 MAGE family member B4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:85,293,862...85,299,825
Ensembl chr  X:85,293,860...85,348,699
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO
IAGP
OMIM:300200
ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
OMIM
MouseDO
ClinVar
PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chr  X:85,235,381...85,239,553
Ensembl chr  X:85,235,370...85,239,553
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 chr  X:84,617,466...84,678,075
Ensembl chr  X:84,617,628...84,678,075
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 chr  X:84,820,445...84,935,105
Ensembl chr  X:84,913,960...84,935,105
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    disease of anatomical entity 15860
      endocrine system disease 6549
        adrenal gland disease 278
          Adrenal Insufficiency 188
            X-linked adrenal hypoplasia congenita 9
Path 2
Term Annotations click to browse term
  disease 16269
    Developmental Disease 14074
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13131
        genetic disease 12823
          monogenic disease 10923
            X-linked monogenic disease 1442
              X-linked recessive disease 874
                X-linked adrenal hypoplasia congenita 9
paths to the root