MCID: PTR022
MIFTS: 6

Paternal Uniparental Disomy of Chromosome 7

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 7

MalaCards integrated aliases for Paternal Uniparental Disomy of Chromosome 7:

Name: Paternal Uniparental Disomy of Chromosome 7 58 29
Upd(7)pat 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA96192

Summaries for Paternal Uniparental Disomy of Chromosome 7

MalaCards based summary : Paternal Uniparental Disomy of Chromosome 7, is also known as upd(7)pat.

Related Diseases for Paternal Uniparental Disomy of Chromosome 7

Symptoms & Phenotypes for Paternal Uniparental Disomy of Chromosome 7

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 7

Search Clinical Trials , NIH Clinical Center for Paternal Uniparental Disomy of Chromosome 7

Genetic Tests for Paternal Uniparental Disomy of Chromosome 7

Genetic tests related to Paternal Uniparental Disomy of Chromosome 7:

# Genetic test Affiliating Genes
1 Paternal Uniparental Disomy of Chromosome 7 29

Anatomical Context for Paternal Uniparental Disomy of Chromosome 7

Publications for Paternal Uniparental Disomy of Chromosome 7

Articles related to Paternal Uniparental Disomy of Chromosome 7:

# Title Authors PMID Year
1
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. 61
12142464 2002

Variations for Paternal Uniparental Disomy of Chromosome 7

Expression for Paternal Uniparental Disomy of Chromosome 7

Search GEO for disease gene expression data for Paternal Uniparental Disomy of Chromosome 7.

Pathways for Paternal Uniparental Disomy of Chromosome 7

GO Terms for Paternal Uniparental Disomy of Chromosome 7

Sources for Paternal Uniparental Disomy of Chromosome 7

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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