MCID: ISL018
MIFTS: 4

Isolated X-Linked Adrenal Hypoplasia Congenita

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Isolated X-Linked Adrenal Hypoplasia Congenita

MalaCards integrated aliases for Isolated X-Linked Adrenal Hypoplasia Congenita:

Name: Isolated X-Linked Adrenal Hypoplasia Congenita 24

Classifications:



Summaries for Isolated X-Linked Adrenal Hypoplasia Congenita

MalaCards based summary : Isolated X-Linked Adrenal Hypoplasia Congenita An important gene associated with Isolated X-Linked Adrenal Hypoplasia Congenita is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1).

Related Diseases for Isolated X-Linked Adrenal Hypoplasia Congenita

Symptoms & Phenotypes for Isolated X-Linked Adrenal Hypoplasia Congenita

Drugs & Therapeutics for Isolated X-Linked Adrenal Hypoplasia Congenita

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Isolated X-Linked Adrenal Hypoplasia Congenita

Genetic Tests for Isolated X-Linked Adrenal Hypoplasia Congenita

Genetic tests related to Isolated X-Linked Adrenal Hypoplasia Congenita:

id Genetic test Affiliating Genes
1 Isolated X-Linked Adrenal Hypoplasia Congenita 24 NR0B1

Anatomical Context for Isolated X-Linked Adrenal Hypoplasia Congenita

Publications for Isolated X-Linked Adrenal Hypoplasia Congenita

Variations for Isolated X-Linked Adrenal Hypoplasia Congenita

Expression for Isolated X-Linked Adrenal Hypoplasia Congenita

Search GEO for disease gene expression data for Isolated X-Linked Adrenal Hypoplasia Congenita.

Pathways for Isolated X-Linked Adrenal Hypoplasia Congenita

GO Terms for Isolated X-Linked Adrenal Hypoplasia Congenita

Sources for Isolated X-Linked Adrenal Hypoplasia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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