FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 1p36.33 duplication syndrome ID (Ontology) DOID:0070470 (Human Disease)
Definition A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common.
Also Known As "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT"
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autosomal genetic disease
 |__autosomal dominant disease________
chromosomal disease                   |
 |__chromosomal duplication syndrome__|
                                      chromosome 1p36.33 duplication syndrome
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Is a autosomal dominant disease
chromosomal duplication syndrome
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Synonyms
  • "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT" EXACT
Secondary IDs
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MIM:618815
ORDO:656279
UMLS_CUI:C5394150