MCID: SKL011

Skeletal Defects, Genital Hypoplasia, and Mental Retardation malady

Genetic diseases (common), Neuronal diseases, Bone diseases, Mental diseases categories
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Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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47OMIM, 33MalaCards
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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:47 612447

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

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47OMIM
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Classifications:



Aliases & Descriptions:

skeletal defects, genital hypoplasia, and mental retardation 47


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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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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

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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64UniProtKB/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:

64
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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet