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 60
12p13.33 Microdeletion Syndrome 60
Distal Deletion 12p 60
Del(12)(p13.33) 60

Characteristics:

Orphanet epidemiological data:

60
distal monosomy 12p
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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