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
Accession: DOID:0080156
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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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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
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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
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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
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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
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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 PMID:8855822 PMID:9003500 PMID:9063431 PMID:9195207 PMID:9360549 PMID:9415399 PMID:9529340 PMID:9536098 PMID:10210708 PMID:10361383 PMID:10522996 PMID:10599709 PMID:10675358 PMID:10848616 PMID:11113848 PMID:11443184 PMID:11549627 PMID:11738790 PMID:11748841 PMID:11748852 PMID:11788621 PMID:12519885 PMID:12629128 PMID:12700175 PMID:15841486 PMID:16459121 PMID:16684822 PMID:17164309 PMID:17504899 PMID:17576681 PMID:17587282 PMID:18339285 PMID:19672728 PMID:20573681 PMID:20685758 PMID:21029627 PMID:21408189 PMID:21739173 PMID:21925982 PMID:22761912 PMID:23018754 PMID:23384712 PMID:23512386 PMID:25741868 PMID:26467025 PMID:26500747 PMID:26980296 PMID:28492532 PMID:28546232 PMID:30620004 PMID:31263616 PMID:32482417 PMID:34193132 PMID:37237297 More...
NCBI chrNW_004936553:6,436,371...6,440,141
Ensembl chrNW_004936553:6,436,371...6,440,141
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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
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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
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