MCID: 9Q3002
MIFTS: 11

9q33.3q34.11 Microdeletion Syndrome

Categories: Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for 9q33.3q34.11 Microdeletion Syndrome

MalaCards integrated aliases for 9q33.3q34.11 Microdeletion Syndrome:

Name: 9q33.3q34.11 Microdeletion Syndrome 59
9q33.3-Q34.11 Microdeletion Syndrome 59
Monosomy 9q33.3-Q34.11 59
Deletion 9q33.3q34.11 59
Monosomy 9q33.3q34.11 59
Del(9)(q33.3q34.11) 59

Classifications:



External Ids:

Orphanet 59 ORPHA495818

Summaries for 9q33.3q34.11 Microdeletion Syndrome

MalaCards based summary : 9q33.3q34.11 Microdeletion Syndrome, is also known as 9q33.3-q34.11 microdeletion syndrome. An important gene associated with 9q33.3q34.11 Microdeletion Syndrome is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include skin, bone and eye, and related phenotype is no phenotypic analysis.

Related Diseases for 9q33.3q34.11 Microdeletion Syndrome

Symptoms & Phenotypes for 9q33.3q34.11 Microdeletion Syndrome

MGI Mouse Phenotypes related to 9q33.3q34.11 Microdeletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 LMX1B STXBP1

Drugs & Therapeutics for 9q33.3q34.11 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 9q33.3q34.11 Microdeletion Syndrome

Genetic Tests for 9q33.3q34.11 Microdeletion Syndrome

Anatomical Context for 9q33.3q34.11 Microdeletion Syndrome

MalaCards organs/tissues related to 9q33.3q34.11 Microdeletion Syndrome:

41
Skin, Bone, Eye

Publications for 9q33.3q34.11 Microdeletion Syndrome

Variations for 9q33.3q34.11 Microdeletion Syndrome

Expression for 9q33.3q34.11 Microdeletion Syndrome

Search GEO for disease gene expression data for 9q33.3q34.11 Microdeletion Syndrome.

Pathways for 9q33.3q34.11 Microdeletion Syndrome

GO Terms for 9q33.3q34.11 Microdeletion Syndrome

Sources for 9q33.3q34.11 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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