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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: OMIM: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 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G FTHL17 ferritin heavy chain like 17 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:31,071,233...31,072,041
Ensembl chr  X:31,071,233...31,072,041 		JBrowse link
G GK glycerol kinase IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G GK-AS1 GK antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,700,064...30,718,099
Ensembl chr  X:30,699,998...30,724,174 		JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718 		JBrowse link
G LOC108410393 NR0B1 5' regulatory region IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,309,364...30,314,190 JBrowse link
G LOC113875019 Sharpr-MPRA regulatory region 11934 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,145,392...30,145,686 JBrowse link
G LOC116309149 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30301194-30302393 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,283,077...30,284,276 JBrowse link
G LOC116309150 CRISPRi-validated cis-regulatory element chrX.505 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,284,257...30,284,403 JBrowse link
G LOC121627963 Sharpr-MPRA regulatory region 5644 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,279,312...31,279,606 JBrowse link
G LOC125446277 Sharpr-MPRA regulatory region 11226 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,227,292...31,227,586 JBrowse link
G LOC126863234 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:28609224-28610423 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:28,591,107...28,592,306 JBrowse link
G LOC126863235 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:29679893-29681092 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:29,661,776...29,662,975 JBrowse link
G LOC126863236 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30232864-30234063 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,214,747...30,215,946 JBrowse link
G LOC129391296 MPRA-validated peak7373 silencer IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,845,079...31,845,279 JBrowse link
G LOC129391297 MPRA-validated peak7374 silencer IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:32,137,659...32,137,859 JBrowse link
G LOC130068072 ATAC-STARR-seq lymphoblastoid silent region 20722 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:29,478,789...29,478,948 JBrowse link
G LOC130068073 ATAC-STARR-seq lymphoblastoid silent region 20723 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:29,870,900...29,870,979 JBrowse link
G LOC130068074 ATAC-STARR-seq lymphoblastoid active region 29508 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,577,788...30,577,997 JBrowse link
G LOC130068075 ATAC-STARR-seq lymphoblastoid silent region 20724 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,593,847...30,593,956 JBrowse link
G LOC130068076 ATAC-STARR-seq lymphoblastoid active region 29509 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,597,467...30,597,516 JBrowse link
G LOC130068077 ATAC-STARR-seq lymphoblastoid silent region 20725 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,653,093...30,653,512 JBrowse link
G LOC130068078 ATAC-STARR-seq lymphoblastoid silent region 20726 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,822,630...30,822,679 JBrowse link
G LOC130068079 ATAC-STARR-seq lymphoblastoid silent region 20727 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,888,910...30,889,299 JBrowse link
G LOC130068080 ATAC-STARR-seq lymphoblastoid active region 29510 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,889,460...30,889,629 JBrowse link
G LOC130068081 ATAC-STARR-seq lymphoblastoid active region 29511 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,093,187...31,093,246 JBrowse link
G LOC130068082 ATAC-STARR-seq lymphoblastoid active region 29512 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,099,995...31,100,074 JBrowse link
G LOC130068083 ATAC-STARR-seq lymphoblastoid active region 29513 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,168,622...31,168,711 JBrowse link
G LOC130068084 ATAC-STARR-seq lymphoblastoid silent region 20728 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,229,184...31,229,233 JBrowse link
G LOC130068085 ATAC-STARR-seq lymphoblastoid active region 29514 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,236,383...31,236,452 JBrowse link
G LOC130068086 ATAC-STARR-seq lymphoblastoid silent region 20729 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,266,507...31,266,606 JBrowse link
G LOC130068087 ATAC-STARR-seq lymphoblastoid silent region 20730 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,266,947...31,267,076 JBrowse link
G LOC130068088 ATAC-STARR-seq lymphoblastoid active region 29515 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,267,117...31,267,176 JBrowse link
G LOC130068089 ATAC-STARR-seq lymphoblastoid active region 29516 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,267,197...31,267,246 JBrowse link
G MAGEB1 MAGE family member B1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:30,243,731...30,252,040
Ensembl chr  X:30,243,715...30,252,040 		JBrowse link
G MAGEB2 MAGE family member B2 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:30,215,563...30,220,089
Ensembl chr  X:30,215,563...30,220,089 		JBrowse link
G MAGEB3 MAGE family member B3 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:30,230,657...30,237,495
Ensembl chr  X:30,230,657...30,237,495 		JBrowse link
G MAGEB4 MAGE family member B4 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:30,242,000...30,244,187
Ensembl chr  X:30,242,000...30,244,187 		JBrowse link
G MIR3915 microRNA 3915 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:32,583,656...32,583,752
Ensembl chr  X:32,583,656...32,583,752 		JBrowse link
G MIR4666B microRNA 4666b IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:29,574,278...29,574,358
Ensembl chr  X:29,574,278...29,574,358 		JBrowse link
G MIR6134 microRNA 6134 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:28,495,555...28,495,663
Ensembl chr  X:28,495,555...28,495,663 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP
ISS		 ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
OMIM:300200		 ClinVar
MouseDO
OMIM		 PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:30,827,442...30,889,254
Ensembl chr  X:30,827,442...30,975,084 		JBrowse link
G TAB3-AS1 TAB3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,834,623...30,839,073
Ensembl chr  X:30,834,623...30,835,300 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:30,558,809...30,577,766
Ensembl chr  X:30,558,809...30,577,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7702
        adrenal gland disease 367
          Adrenal Insufficiency 244
            X-linked adrenal hypoplasia congenita 45
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            X-linked monogenic disease 2088
              X-linked recessive disease 938
                X-linked adrenal hypoplasia congenita 45
paths to the root