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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;   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
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893
JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,892,482...54,931,144 JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,807,024...54,811,144 JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,843,202...54,844,197
Ensembl chr  X:54,843,096...54,844,197
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar
OMIM
PMID:6891556 PMID:7990953 PMID:7990958 PMID:8636263 PMID:8855822 PMID:9003500 PMID:9195207 PMID:9360549 PMID:9415399 PMID:10210708 PMID:10361383 PMID:10522996 PMID:10599709 PMID:10675358 PMID:10848616 PMID:11113848 PMID:11549627 PMID:11738790 PMID:11788621 PMID:12519885 PMID:12629128 PMID:15841486 PMID:17504899 PMID:18339285 PMID:19672728 PMID:20573681 PMID:21408189 PMID:21739173 PMID:23384712 PMID:23512386 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28546232 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
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 NCBI chr  X:54,035,958...54,090,282
Ensembl chr  X:54,062,935...54,086,339
JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:54,390,733...54,409,466
Ensembl chr  X:54,390,733...54,409,466
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      endocrine system disease 5800
        adrenal gland disease 213
          Adrenal Insufficiency 138
            X-linked adrenal hypoplasia congenita 10
Path 2
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          monogenic disease 7121
            X-linked monogenic disease 1020
              X-linked recessive disease 381
                X-linked adrenal hypoplasia congenita 10
paths to the root