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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



show annotations for term's descendants           Sort by:
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 chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733
JBrowse link
G FTHL17 ferritin heavy chain like 17 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:23,680,709...23,681,515
Ensembl chr  X:31,232,234...31,232,785
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:23,250,290...23,327,373
Ensembl chr  X:30,806,950...30,877,131
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:21,180,693...22,548,122
Ensembl chr  X:28,950,521...30,109,286
JBrowse link
G LOC100995562 melanoma-associated antigen 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:22,840,883...22,843,295
Ensembl chr  X:30,397,398...30,398,438
JBrowse link
G MAGEB2 MAGE family member B2 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:22,804,983...22,810,236
Ensembl chr  X:30,369,947...30,370,906
JBrowse link
G MAGEB3 MAGE family member B3 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:22,820,432...22,837,556 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 chr  X:22,903,403...22,908,527
Ensembl chr  X:30,459,527...30,464,652
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:23,428,343...23,489,688
Ensembl chr  X:30,980,841...31,012,994
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:23,159,321...23,178,192
Ensembl chr  X:30,716,617...30,717,522
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      endocrine system disease 6235
        adrenal gland disease 274
          Adrenal Insufficiency 188
            X-linked adrenal hypoplasia congenita 10
Path 2
Term Annotations click to browse term
  disease 15834
    Developmental Disease 13856
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12944
        genetic disease 12643
          monogenic disease 10832
            X-linked monogenic disease 1466
              X-linked recessive disease 891
                X-linked adrenal hypoplasia congenita 10
paths to the root