MCID: PTR019
MIFTS: 9

Paternal Uniparental Disomy of Chromosome 5

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 5

MalaCards integrated aliases for Paternal Uniparental Disomy of Chromosome 5:

Name: Paternal Uniparental Disomy of Chromosome 5 58
Upd(5)pat 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA96190

Summaries for Paternal Uniparental Disomy of Chromosome 5

MalaCards based summary : Paternal Uniparental Disomy of Chromosome 5, is also known as upd(5)pat. Related phenotypes are global developmental delay and kyphoscoliosis

Related Diseases for Paternal Uniparental Disomy of Chromosome 5

Symptoms & Phenotypes for Paternal Uniparental Disomy of Chromosome 5

Human phenotypes related to Paternal Uniparental Disomy of Chromosome 5:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
3 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
4 schizophrenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100753
5 renal duplication 58 31 hallmark (90%) Very frequent (99-80%) HP:0000075
6 short lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006385
7 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
8 multiple epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002654
9 secundum atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001684
10 rhizomelic arm shortening 58 31 hallmark (90%) Very frequent (99-80%) HP:0004991
11 abnormally large globe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001090
12 abnormality of fibular epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0010593
13 posterior plagiocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0011327

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 5

Search Clinical Trials , NIH Clinical Center for Paternal Uniparental Disomy of Chromosome 5

Genetic Tests for Paternal Uniparental Disomy of Chromosome 5

Anatomical Context for Paternal Uniparental Disomy of Chromosome 5

Publications for Paternal Uniparental Disomy of Chromosome 5

Variations for Paternal Uniparental Disomy of Chromosome 5

Expression for Paternal Uniparental Disomy of Chromosome 5

Search GEO for disease gene expression data for Paternal Uniparental Disomy of Chromosome 5.

Pathways for Paternal Uniparental Disomy of Chromosome 5

GO Terms for Paternal Uniparental Disomy of Chromosome 5

Sources for Paternal Uniparental Disomy of Chromosome 5

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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