MCID: CLC009
MIFTS: 9

Clcn7-Related Osteopetrosis

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Clcn7-Related Osteopetrosis

MalaCards integrated aliases for Clcn7-Related Osteopetrosis:

Name: Clcn7-Related Osteopetrosis 25

Characteristics:

GeneReviews:

25
Penetrance Depending on the population and the pathogenic variants studied, penetrance ranges from 60% to 90% in families with adoii [bollerslev 1989, bénichou et al 2000, waguespack et al 2003]...

Classifications:



Summaries for Clcn7-Related Osteopetrosis

MalaCards based summary : Clcn7-Related Osteopetrosis is related to osteopetrosis.

GeneReviews: NBK1127

Related Diseases for Clcn7-Related Osteopetrosis

Symptoms & Phenotypes for Clcn7-Related Osteopetrosis

Drugs & Therapeutics for Clcn7-Related Osteopetrosis

Search Clinical Trials , NIH Clinical Center for Clcn7-Related Osteopetrosis

Genetic Tests for Clcn7-Related Osteopetrosis

Anatomical Context for Clcn7-Related Osteopetrosis

Publications for Clcn7-Related Osteopetrosis

Articles related to Clcn7-Related Osteopetrosis:

# Title Authors Year
1
Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia. ( 21962762 )
2012
2
CLCN7-Related Osteopetrosis ( 20301306 )
1993

Variations for Clcn7-Related Osteopetrosis

Expression for Clcn7-Related Osteopetrosis

Search GEO for disease gene expression data for Clcn7-Related Osteopetrosis.

Pathways for Clcn7-Related Osteopetrosis

GO Terms for Clcn7-Related Osteopetrosis

Sources for Clcn7-Related Osteopetrosis

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
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47 MGI
50 NCI
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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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