MCID: PRD022
MIFTS: 12

Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1

Categories: Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Summaries for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

MalaCards based summary : Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 is related to isolated sternocostoclavicular hyperostosis and autoimmune-related retinopathy and optic neuropathy. An important gene associated with Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 is SNORD116@ (Small Nucleolar RNA, C/D Box 116 Cluster). Related phenotype is adipose tissue.

Related Diseases for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Graphical network of the top 20 diseases related to Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1:



Diseases related to Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1

Symptoms & Phenotypes for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

MGI Mouse Phenotypes related to Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 MAGEL2 OCA2 SNRPN

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GO Terms for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

Sources for Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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