MCID: MTR065
MIFTS: 6

Maternal Uniparental Disomy of Chromosome 21

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome 21

MalaCards integrated aliases for Maternal Uniparental Disomy of Chromosome 21:

Name: Maternal Uniparental Disomy of Chromosome 21 58
Upd(21)mat 58

Characteristics:

Orphanet epidemiological data:

58
maternal uniparental disomy of chromosome 21
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA96187

Summaries for Maternal Uniparental Disomy of Chromosome 21

MalaCards based summary : Maternal Uniparental Disomy of Chromosome 21, also known as upd(21)mat, is related to maternal uniparental disomy.

Related Diseases for Maternal Uniparental Disomy of Chromosome 21

Symptoms & Phenotypes for Maternal Uniparental Disomy of Chromosome 21

Drugs & Therapeutics for Maternal Uniparental Disomy of Chromosome 21

Search Clinical Trials , NIH Clinical Center for Maternal Uniparental Disomy of Chromosome 21

Genetic Tests for Maternal Uniparental Disomy of Chromosome 21

Anatomical Context for Maternal Uniparental Disomy of Chromosome 21

Publications for Maternal Uniparental Disomy of Chromosome 21

Articles related to Maternal Uniparental Disomy of Chromosome 21:

# Title Authors PMID Year
1
A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome. 61
19215885 2009
2
Maternal uniparental disomy of chromosome 21 in a normal child. 61
10076888 1999

Variations for Maternal Uniparental Disomy of Chromosome 21

Expression for Maternal Uniparental Disomy of Chromosome 21

Search GEO for disease gene expression data for Maternal Uniparental Disomy of Chromosome 21.

Pathways for Maternal Uniparental Disomy of Chromosome 21

GO Terms for Maternal Uniparental Disomy of Chromosome 21

Sources for Maternal Uniparental Disomy of Chromosome 21

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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