MCID: SKL011

Skeletal Defects, Genital Hypoplasia, and Mental Retardation malady

Genetic diseases (common), Neuronal diseases, Bone diseases, Mental diseases categories

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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48OMIM, 34MalaCards
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MalaCards: Skeletal Defects, Genital Hypoplasia, and Mental Retardation An important gene associated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation is ZBTB16 (zinc finger and BTB domain containing 16).

Description from OMIM:48 612447

Aliases & Classifications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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48OMIM
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Classifications:



Aliases & Descriptions:

skeletal defects, genital hypoplasia, and mental retardation 48


Related Diseases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Symptoms for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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48OMIM
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Symptoms by clinical synopsis from OMIM:

612447

Clinical features from OMIM:

612447

Drugs & Therapeutics for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Drug clinical trials:

Search ClinicalTrials for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Search NIH Clinical Center for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Search CenterWatch for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Genetic Tests for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Anatomical Context for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Animal Models for Skeletal Defects, Genital Hypoplasia, and Mental Retardation or affiliated genes

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Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

65
id Symbol AA change Variation ID SNP ID
1ZBTB16p.Met617ValVAR_054912

Clinvar genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

1
id Gene Name Type Significance SNP ID Assembly Location
1ZBTB16NM_006006.4(ZBTB16): c.1849A> G (p.Met617Val)single nucleotide variantPathogenicrs121434606GRCh37Chr 11, 114121104: 114121104

Expression for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Search GEO for disease gene expression data for Skeletal Defects, Genital Hypoplasia, and Mental Retardation.

Pathways for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Compounds for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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GO Terms for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Products for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet