Search Ontology:
Human Disease
neurocardiorenal malformation syndrome
- Term ID
- DOID:0070719
- Synonyms
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- Definition
- A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26. https://pmc.ncbi.nlm.nih.gov/articles/PMC12256896/
- References
- Ontology
- Human Disease ( DOID:0070719 )
Other Pages
Genes Involved
Zebrafish Models