MCID: PTR015
MIFTS: 8

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 59
Upd Pat 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q99.8
Orphanet 59 ORPHA261524

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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
5 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
6 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
7 shield chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000914
8 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
9 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
10 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
11 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
12 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
13 moderate global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011343
14 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
15 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
16 hypoplastic areola 59 32 hallmark (90%) Very frequent (99-80%) HP:0100853
17 intellectual disability 59 Frequent (79-30%)
18 global developmental delay 59 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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