MCID: SKL011

Skeletal Defects, Genital Hypoplasia, and Mental Retardation malady

Neuronal, Bone categories

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Sources:
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:

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


Aliases & Descriptions:

skeletal defects, genital hypoplasia, and mental retardation 47


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

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

Sources:
47OMIM
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Clinical features from OMIM:

612447

Clinical synopsis from OMIM:

612447

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

Sources:
5CenterWatch, 42NIH 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

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

63
id Symbol AA change Variation SNP ID
1ZBTB16p.Met617ValVAR_054912

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

Sources:
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet