MCID: XLN248
MIFTS: 8

X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

MalaCards integrated aliases for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation:

Name: X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation 58
X-Linked Congenital Adrenal Hypoplasia Due to a Nr0b1 Point Mutation 58
X-Linked Ahc Due to a Nr0b1 Point Mutation 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E27.1
UMLS via Orphanet 72 C0220766 C0342482
Orphanet 58 ORPHA95702

Summaries for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

MalaCards based summary : X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation, is also known as x-linked congenital adrenal hypoplasia due to a nr0b1 point mutation. An important gene associated with X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1). Affiliated tissues include adrenal gland.

Related Diseases for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

Symptoms & Phenotypes for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

Drugs & Therapeutics for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

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Genetic Tests for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

Anatomical Context for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

MalaCards organs/tissues related to X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation:

40
Adrenal Gland

Publications for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

Variations for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

Expression for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

Search GEO for disease gene expression data for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation.

Pathways for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

GO Terms for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

Sources for X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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