OBO ID: DOID:0081160 |
Term Name: | dilated cardiomyopathy 2D | Search Ontology: | |
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Synonyms: |
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Definition: | A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. https://pubmed.ncbi.nlm.nih.gov/32514796/ | ||
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Ontology: | Human Disease ( DOID:0081160 ) |
OTHER dilated cardiomyopathy 2D PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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RPL3L | Cardiomyopathy, dilated, 2D |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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