MCID: SKL011

Skeletal Defects, Genital Hypoplasia, and Mental Retardation malady

Neuronal diseases, Bone diseases categories

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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46OMIM, 32MalaCards
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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:46 612447

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

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46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Bone diseases


Aliases & Descriptions:

skeletal defects, genital hypoplasia, and mental retardation 46


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

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Clinical Features for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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46OMIM
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Clinical features from OMIM:

612447

Clinical synopsis from OMIM:

612447

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Genetic Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

62
id Symbol AA change Variation ID SNP ID
1ZBTB16p.Met617ValVAR_054912

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

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1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet