MCID: MND014

Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency malady

Blood diseases, Rare diseases categories

Aliases & Classifications for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Sources:
51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency:

Name: Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency 51
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interleukin 12b Deficiency 51
 
Msmd Due to Complete Interleukin 12b Deficiency 51
Msmd Due to Complete Il12b Deficiency 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet51 319558
ICD10 via Orphanet28 D84.8

Summaries for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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MalaCards based summary: Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency, is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency An important gene associated with Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency is IL12B (Interleukin 12B).

Related Diseases for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Symptoms for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Drugs & Therapeutics for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency

Genetic Tests for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Anatomical Context for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Animal Models for Mendelian Susceptibility to Mycobacterial Diseases Due to... or affiliated genes

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Publications for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Variations for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Clinvar genetic disease variations for Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IL12BNC_000005.10deletionPathogenicGRCh38Chr 5, 159317671: 159322314
2IL12BNM_002187.2(IL12B): c.320dupA (p.Glu108Glyfs)duplicationPathogenicrs587776807GRCh38Chr 5, 159323098: 159323098
3IL12BNM_002187.2(IL12B): c.298_305delTCGCTCCT (p.Ser100Alafs)deletionPathogenicrs786201006GRCh38Chr 5, 159323113: 159323120

Expression for genes affiliated with Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Search GEO for disease gene expression data for Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency.

Pathways for genes affiliated with Mendelian Susceptibility to Mycobacterial Diseases Due to...

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GO Terms for genes affiliated with Mendelian Susceptibility to Mycobacterial Diseases Due to...

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Sources for Mendelian Susceptibility to Mycobacterial Diseases Due to...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet