MCID: 46X026
MIFTS: 17

46xy Sex Reversal 2, Dosage-Sensitive malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for 46xy Sex Reversal 2, Dosage-Sensitive

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Aliases & Descriptions for 46xy Sex Reversal 2, Dosage-Sensitive:

Name: 46xy Sex Reversal 2, Dosage-Sensitive 46 9
Dosage-Sensitive Sex Reversal 42 61
 
46,xy Sex Reversal 2 46 22
Dss 42


Classifications:



External Ids:

OMIM46 300018

Summaries for 46xy Sex Reversal 2, Dosage-Sensitive

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MalaCards based summary: 46xy Sex Reversal 2, Dosage-Sensitive, also known as dosage-sensitive sex reversal, is related to colitis and dengue shock syndrome, and has symptoms including x-linked inheritanceand sex reversal. An important gene associated with 46xy Sex Reversal 2, Dosage-Sensitive is NR0B1 (nuclear receptor subfamily 0, group B, member 1).

Description from OMIM:46 300018

Related Diseases for 46xy Sex Reversal 2, Dosage-Sensitive

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Diseases related to 46xy Sex Reversal 2, Dosage-Sensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1colitis10.6
2dengue shock syndrome10.5
3dengue hemorrhagic fever10.4
4hemorrhagic fever10.4
5neuropathy, congenital hypomyelinating10.3
6hyperandrogenism10.3
7ulcerative colitis10.2
8charcot-marie-tooth disease, type 1b10.0
9dejerine-sottas disease10.0
10dengue fever, protection against10.0
11charcot-marie-tooth disease, type 4f10.0
12hypercalcemia10.0
13discrete subaortic stenosis10.0

Graphical network of diseases related to 46xy Sex Reversal 2, Dosage-Sensitive:



Diseases related to 46xy sex reversal 2, dosage-sensitive

Symptoms for 46xy Sex Reversal 2, Dosage-Sensitive

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Symptoms by clinical synopsis from OMIM:

300018

Clinical features from OMIM:

300018

HPO human phenotypes related to 46xy Sex Reversal 2, Dosage-Sensitive:

id Description Frequency HPO Source Accession
1 x-linked inheritance HP:0001417
2 sex reversal HP:0012245

Drugs & Therapeutics for 46xy Sex Reversal 2, Dosage-Sensitive

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Drug clinical trials:

Search ClinicalTrials for 46xy Sex Reversal 2, Dosage-Sensitive

Search NIH Clinical Center for 46xy Sex Reversal 2, Dosage-Sensitive

Genetic Tests for 46xy Sex Reversal 2, Dosage-Sensitive

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Genetic tests related to 46xy Sex Reversal 2, Dosage-Sensitive:

id Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 222

Anatomical Context for 46xy Sex Reversal 2, Dosage-Sensitive

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Animal Models for 46xy Sex Reversal 2, Dosage-Sensitive or affiliated genes

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Publications for 46xy Sex Reversal 2, Dosage-Sensitive

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Variations for 46xy Sex Reversal 2, Dosage-Sensitive

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Clinvar genetic disease variations for 46xy Sex Reversal 2, Dosage-Sensitive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NR0B1NR0B1, DUPduplicationPathogenic

Expression for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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Search GEO for disease gene expression data for 46xy Sex Reversal 2, Dosage-Sensitive.

Pathways for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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Compounds for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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GO Terms for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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Sources for 46xy Sex Reversal 2, Dosage-Sensitive

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet