MCID: CHR233
MIFTS: 13

Chromosome 21q Deletion malady

Rare diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Chromosome 21q Deletion

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Chromosome 21q Deletion:

Name: Chromosome 21q Deletion 42
Partial 21q Monosomy 42 48
21q- Syndrome 42 48
21q Deletion 42 48
Monosomy 21 42 48
 
Chromosome 21 Monosomy 61
Partial Monosomy 21q 42
21q Monosomy 42
Monosomy 21q 42
Deletion 21q 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
partial 21q monosomy:
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal


External Ids:

Orphanet48 574
ICD10 via Orphanet26 Q93.0
UMLS via Orphanet62 C0795875

Summaries for Chromosome 21q Deletion

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MalaCards based summary: Chromosome 21q Deletion, also known as partial 21q monosomy, is related to ring chromosome 21 and fragile x syndrome. Affiliated tissues include eye.

Related Diseases for Chromosome 21q Deletion

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Diseases related to Chromosome 21q Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ring chromosome 2110.2
2fragile x syndrome10.1
3leukemia10.1
4thrombocytopenia10.1
5neuronitis10.1
6sclerocornea10.1
7azoospermia10.1
8eec syndrome10.1
9mental retardation10.1
10neuronal migration disorders10.1

Graphical network of diseases related to Chromosome 21q Deletion:



Diseases related to chromosome 21q deletion

Symptoms for Chromosome 21q Deletion

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Drugs & Therapeutics for Chromosome 21q Deletion

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Drug clinical trials:

Search ClinicalTrials for Chromosome 21q Deletion

Search NIH Clinical Center for Chromosome 21q Deletion

Genetic Tests for Chromosome 21q Deletion

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Anatomical Context for Chromosome 21q Deletion

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MalaCards organs/tissues related to Chromosome 21q Deletion:

31
Eye

Animal Models for Chromosome 21q Deletion or affiliated genes

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Publications for Chromosome 21q Deletion

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Variations for Chromosome 21q Deletion

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Expression for genes affiliated with Chromosome 21q Deletion

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Search GEO for disease gene expression data for Chromosome 21q Deletion.

Pathways for genes affiliated with Chromosome 21q Deletion

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Compounds for genes affiliated with Chromosome 21q Deletion

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GO Terms for genes affiliated with Chromosome 21q Deletion

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Sources for Chromosome 21q Deletion

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet