MCID: PTR020
MIFTS: 5

Paternal Uniparental Disomy of Chromosome 20

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 20

MalaCards integrated aliases for Paternal Uniparental Disomy of Chromosome 20:

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

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA96194

Summaries for Paternal Uniparental Disomy of Chromosome 20

MalaCards based summary : Paternal Uniparental Disomy of Chromosome 20, is also known as paternal upd(20).

Related Diseases for Paternal Uniparental Disomy of Chromosome 20

Symptoms & Phenotypes for Paternal Uniparental Disomy of Chromosome 20

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 20

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

Genetic Tests for Paternal Uniparental Disomy of Chromosome 20

Anatomical Context for Paternal Uniparental Disomy of Chromosome 20

Publications for Paternal Uniparental Disomy of Chromosome 20

Articles related to Paternal Uniparental Disomy of Chromosome 20:

# Title Authors PMID Year
1
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. 61
30905746 2019

Variations for Paternal Uniparental Disomy of Chromosome 20

Expression for Paternal Uniparental Disomy of Chromosome 20

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

Pathways for Paternal Uniparental Disomy of Chromosome 20

GO Terms for Paternal Uniparental Disomy of Chromosome 20

Sources for Paternal Uniparental Disomy of Chromosome 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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