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MCID: PRT131
MIFTS: 25
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Partial Trisomy Distal 4q
Categories:
Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Partial Trisomy Distal 4q:
Classifications:
ICD10:
35
External Ids:
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Disease Ontology
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12
A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has material basis in duplication of the distal portion of chromosome 4q.
MalaCards based summary : Partial Trisomy Distal 4q, also known as chromosome 4, partial trisomy 4q, is related to chromosomal triplication and choanal atresia, posterior. An important gene associated with Partial Trisomy Distal 4q is HAND2 (Heart And Neural Crest Derivatives Expressed 2), and among its related pathways/superpathways is Proteoglycans in cancer. Affiliated tissues include heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2) |
Diseases related to Partial Trisomy Distal 4q via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Partial Trisomy Distal 4q:
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GenomeRNAi Phenotypes related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:27 (show all 20)
MGI Mouse Phenotypes related to Partial Trisomy Distal 4q:47
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MalaCards organs/tissues related to Partial Trisomy Distal 4q:42
Heart
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Articles related to Partial Trisomy Distal 4q:
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Genes related to Partial Trisomy Distal 4q (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Partial Trisomy Distal 4q.
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Cellular components related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:
Biological processes related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:
Molecular functions related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:
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