MCID: CHR260

Chromosome 7p Deletion malady

Category: Rare diseases

Aliases & Classifications for Chromosome 7p Deletion

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Aliases & Descriptions for Chromosome 7p Deletion:

Name: Chromosome 7p Deletion 48
Partial Monosomy 7p 48
7p Deletion 48
 
Deletion 7p 48
Monosomy 7p 48
7p Monosomy 48

Classifications:



Summaries for Chromosome 7p Deletion

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NIH Rare Diseases:48 Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. most cases are not inherited, but people can pass the deletion on to their children. treatment is based on the signs and symptoms present in each person. last updated: 12/1/2015

MalaCards based summary: Chromosome 7p Deletion, also known as partial monosomy 7p, is related to non-distal monosomy 7p and distal monosomy 7p.

Related Diseases for Chromosome 7p Deletion

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Diseases related to Chromosome 7p Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1non-distal monosomy 7p12.0
2distal monosomy 7p10.9
3greig cephalopolysyndactyly syndrome9.8

Symptoms & Phenotypes for Chromosome 7p Deletion

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Drugs & Therapeutics for Chromosome 7p Deletion

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chromosome 7p Deletion

Genetic Tests for Chromosome 7p Deletion

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Anatomical Context for Chromosome 7p Deletion

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Publications for Chromosome 7p Deletion

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Articles related to Chromosome 7p Deletion:

idTitleAuthorsYear
1
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (16829355)
2006

Variations for Chromosome 7p Deletion

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Expression for genes affiliated with Chromosome 7p Deletion

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Search GEO for disease gene expression data for Chromosome 7p Deletion.

Pathways for genes affiliated with Chromosome 7p Deletion

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GO Terms for genes affiliated with Chromosome 7p Deletion

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Sources for Chromosome 7p Deletion

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet