MCID: PTR015
MIFTS: 10

Paternal Uniparental Disomy of Chromosome X

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome X

MalaCards integrated aliases for Paternal Uniparental Disomy of Chromosome X:

Name: Paternal Uniparental Disomy of Chromosome X 58
Upd Pat 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Paternal Uniparental Disomy of Chromosome X

MalaCards based summary : Paternal Uniparental Disomy of Chromosome X, is also known as upd pat. Related phenotypes are short neck and muscular hypotonia

Related Diseases for Paternal Uniparental Disomy of Chromosome X

Symptoms & Phenotypes for Paternal Uniparental Disomy of Chromosome X

Human phenotypes related to Paternal Uniparental Disomy of Chromosome X:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
5 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
6 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
7 shield chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000914
8 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
9 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
10 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
11 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
12 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
13 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
14 moderate global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011343
15 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
16 hypoplastic areola 58 31 hallmark (90%) Very frequent (99-80%) HP:0100853
17 intellectual disability 58 Frequent (79-30%)
18 global developmental delay 58 Frequent (79-30%)

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome X

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

Genetic Tests for Paternal Uniparental Disomy of Chromosome X

Anatomical Context for Paternal Uniparental Disomy of Chromosome X

Publications for Paternal Uniparental Disomy of Chromosome X

Variations for Paternal Uniparental Disomy of Chromosome X

Expression for Paternal Uniparental Disomy of Chromosome X

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

Pathways for Paternal Uniparental Disomy of Chromosome X

GO Terms for Paternal Uniparental Disomy of Chromosome X

Sources for Paternal Uniparental Disomy of Chromosome X

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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