MCID: UNP009
MIFTS: 9

Uniparental Disomy of Chromosome 20

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 20

MalaCards integrated aliases for Uniparental Disomy of Chromosome 20:

Name: Uniparental Disomy of Chromosome 20 58
Upd(20) 58

Classifications:



External Ids:

Orphanet 58 ORPHA263059

Summaries for Uniparental Disomy of Chromosome 20

MalaCards based summary : Uniparental Disomy of Chromosome 20, also known as upd(20), is related to mulchandani-bhoj-conlin syndrome and paternal uniparental disomy of chromosome 20.

Related Diseases for Uniparental Disomy of Chromosome 20

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 20:



Diseases related to Uniparental Disomy of Chromosome 20

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 20

Drugs & Therapeutics for Uniparental Disomy of Chromosome 20

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 20

Genetic Tests for Uniparental Disomy of Chromosome 20

Anatomical Context for Uniparental Disomy of Chromosome 20

Publications for Uniparental Disomy of Chromosome 20

Articles related to Uniparental Disomy of Chromosome 20:

# Title Authors PMID Year
1
Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. 61
33513760 2021
2
The Distinct Role of the Extra-Large G Protein ɑ-Subunit XLɑs. 61
32596800 2020
3
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. 61
30905746 2019
4
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. 61
26248010 2016
5
Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy. 61
25847371 2015
6
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. 61
12404100 2002

Variations for Uniparental Disomy of Chromosome 20

Expression for Uniparental Disomy of Chromosome 20

Search GEO for disease gene expression data for Uniparental Disomy of Chromosome 20.

Pathways for Uniparental Disomy of Chromosome 20

GO Terms for Uniparental Disomy of Chromosome 20

Sources for Uniparental Disomy of Chromosome 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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