MCID: DST058
MIFTS: 6

Distal Monosomy 12p

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Distal Monosomy 12p

MalaCards integrated aliases for Distal Monosomy 12p:

Name: Distal Monosomy 12p 58
12p13.33 Microdeletion Syndrome 58
Distal Deletion 12p 58
Del(12)(p13.33) 58

Characteristics:

Orphanet epidemiological data:

58
distal monosomy 12p
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA280325

Summaries for Distal Monosomy 12p

MalaCards based summary : Distal Monosomy 12p, is also known as 12p13.33 microdeletion syndrome. An important gene associated with Distal Monosomy 12p is ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1).

Related Diseases for Distal Monosomy 12p

Symptoms & Phenotypes for Distal Monosomy 12p

Drugs & Therapeutics for Distal Monosomy 12p

Search Clinical Trials , NIH Clinical Center for Distal Monosomy 12p

Genetic Tests for Distal Monosomy 12p

Anatomical Context for Distal Monosomy 12p

Publications for Distal Monosomy 12p

Variations for Distal Monosomy 12p

Expression for Distal Monosomy 12p

Search GEO for disease gene expression data for Distal Monosomy 12p.

Pathways for Distal Monosomy 12p

GO Terms for Distal Monosomy 12p

Sources for Distal Monosomy 12p

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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