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MCID: PRT131
MIFTS: 30
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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:
34
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 choanal atresia, posterior and chromosomal triplication. An important gene associated with Partial Trisomy Distal 4q is HAND2 (Heart And Neural Crest Derivatives Expressed 2), and among its related pathways/superpathways are Proteoglycans in cancer and Aryl Hydrocarbon Receptor. Affiliated tissues include heart, colon and ovary, and related phenotypes are behavior/neurological and cardiovascular system |
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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MGI Mouse Phenotypes related to Partial Trisomy Distal 4q:46
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MalaCards organs/tissues related to Partial Trisomy Distal 4q:41
Heart,
Colon,
Ovary
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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:(show all 13)
Molecular functions related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:
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