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	x-linked adrenal hypoplasia congenita

Disease ID	1949
Disease	x-linked adrenal hypoplasia congenita
Definition	A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.
Synonym	addison disease, x-linked adrenal hypoplasia congenita adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism ahc with hhg ahc with isolated gonadotropin deficiency ahch congenital adrenal hypoplasia, x-linked congenital adrenal hypoplasia, x-linked (disorder) x-linked congenital adrenal hypoplasia
Orphanet	ORPHANET:95702
OMIM	OMIM:300200
UMLS	C0342482
SNOMED-CT	SNOMEDCT_US_2016_09_01:237764004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0020619 \| hypogonadism \| 6 C0022735 \| hypogonadotropic hypogonadism \| 5 C0034013 \| precocious puberty \| 2 C0001403 \| primary adrenal insufficiency \| 1 C1565489 \| renal insufficiency \| 1 C0001623 \| adrenal insufficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 190 \| NR0B1 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 65057 \| ACD \| 2.67 \| DISEASES 551 \| AVP \| 1.03 \| DISEASES 778 \| CACNA1F \| 1.709 \| DISEASES 1028 \| CDKN1C \| 3.591 \| DISEASES 1269 \| CNR2 \| 2.777 \| DISEASES 1585 \| CYP11B2 \| 1.838 \| DISEASES 1756 \| DMD \| 2.991 \| DISEASES 80712 \| ESX1 \| 1.927 \| DISEASES 2710 \| GK \| 4.843 \| DISEASES 3283 \| HSD3B1 \| 1.609 \| DISEASES 26280 \| IL1RAPL2 \| 3.316 \| DISEASES 8022 \| LHX3 \| 2.13 \| DISEASES 4112 \| MAGEB1 \| 3.206 \| DISEASES 10046 \| MAMLD1 \| 2.387 \| DISEASES 4158 \| MC2R \| 2.846 \| DISEASES 190 \| NR0B1 \| 7.99 \| DISEASES 2516 \| NR5A1 \| 5.062 \| DISEASES 8204 \| NRIP1 \| 1.981 \| DISEASES 60506 \| NYX \| 2.065 \| DISEASES 6256 \| RXRA \| 1.599 \| DISEASES 6736 \| SRY \| 1.476 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1949
Disease	x-linked adrenal hypoplasia congenita
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0000135 \| Hypogonadism \| 6 HP:0000826 \| Precocious puberty \| 2 HP:0000083 \| Renal insufficiency \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0008207 \| Addison's disease \| 1 HP:0000047 \| Hypospadias \| 1

Disease ID	1949
Disease	x-linked adrenal hypoplasia congenita
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:22)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894886	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308257	C	T
rs104894887	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308576	A	T
rs104894888	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308564	C	G
rs104894889	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308660	C	T
rs104894890	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308517	G	A
rs104894891	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308851	C	T
rs104894892	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30309091	G	T
rs104894894	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30304809	G	A
rs104894895	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308551	G	C
rs104894896	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308218	C	A
rs104894897	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30304676	A	C
rs104894898	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308773	G	T
rs104894899	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308222	A	T
rs104894900	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308226	A	C
rs104894906	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30304795	G	T
rs104894907	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308474	A	G
rs104894908	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30309255	G	A
rs28935481	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30304673	T	A
rs28935482	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308491	C	G
rs386134262	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308270	A	G
rs386134263	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30308223	G	A
rs387907373	NA	190	NR0B1	umls:C0342482	CLINVAR	NA	0.12	NA	NR0B1	X	30304718	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1949
Disease	x-linked adrenal hypoplasia congenita
Case	(Waiting for update.)