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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MalaCards based summary: Skeletal Defects, Genital Hypoplasia, and Mental Retardation and has symptoms including 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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Skeletal Defects, Genital Hypoplasia, and Mental Retardation, Aliases & Descriptions:

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation 46


Classifications:



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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Symptoms by clinical synopsis from OMIM:

612447

Clinical features from OMIM:

612447

HPO human phenotypes related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cryptorchidism HP:0000028
3 micropenis HP:0000054
4 narrow mouth HP:0000160
5 thin vermilion border HP:0000233
6 microcephaly HP:0000252
7 strabismus HP:0000486
8 intellectual disability HP:0001249
9 delayed skeletal maturation HP:0002750
10 hypoplasia of the ulna HP:0003022
11 fibular hypoplasia HP:0003038
12 short femur HP:0003097
13 short stature HP:0004322
14 short tibia HP:0005736
15 supernumerary ribs HP:0005815
16 aplasia/hypoplasia of the radius HP:0006501
17 absent thumb HP:0009777

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

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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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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet