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 59
12p13.33 Microdeletion Syndrome 59
Distal Deletion 12p 59
Del(12)(p13.33) 59

Characteristics:

Orphanet epidemiological data:

59
distal monosomy 12p
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA280325
ICD10 via Orphanet 34 Q93.5

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 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
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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