MCID: BRN138
MIFTS: 5

Branchiootorenal Spectrum Disorder

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootorenal Spectrum Disorder

MalaCards integrated aliases for Branchiootorenal Spectrum Disorder:

Name: Branchiootorenal Spectrum Disorder 25

Characteristics:

GeneReviews:

25
Penetrance Based on careful clinical studies of large pedigrees, branchiootorenal spectrum disorder appears to have 100% penetrance, although expressivity is highly variable [chang et al 2004]...

Classifications:



Summaries for Branchiootorenal Spectrum Disorder

MalaCards based summary : Branchiootorenal Spectrum Disorder is related to branchiootorenal/branchiootic syndrome.

GeneReviews: NBK1380

Related Diseases for Branchiootorenal Spectrum Disorder

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

Diseases related to Branchiootorenal Spectrum Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootorenal/branchiootic syndrome 12.3

Symptoms & Phenotypes for Branchiootorenal Spectrum Disorder

Drugs & Therapeutics for Branchiootorenal Spectrum Disorder

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Spectrum Disorder

Genetic Tests for Branchiootorenal Spectrum Disorder

Anatomical Context for Branchiootorenal Spectrum Disorder

Publications for Branchiootorenal Spectrum Disorder

Variations for Branchiootorenal Spectrum Disorder

Expression for Branchiootorenal Spectrum Disorder

Search GEO for disease gene expression data for Branchiootorenal Spectrum Disorder.

Pathways for Branchiootorenal Spectrum Disorder

GO Terms for Branchiootorenal Spectrum Disorder

Sources for Branchiootorenal Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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