FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 1q41-q42 deletion syndrome ID (Ontology) DOID:0060412 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
Also Known As "1q41-q42 microdeletion syndrome" ; "1q41q42 microdeletion syndrome"
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monogenic disease
 |__autosomal genetic disease__________
chromosomal disease                    |
 |__chromosomal deletion syndrome______|
syndrome                               |
 |__holoprosencephaly__________________|
congenital nervous system abnormality  |
 |__holoprosencephaly__________________|
                                       chromosome 1q41-q42 deletion syndrome
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Is a autosomal genetic disease
chromosomal deletion syndrome
holoprosencephaly
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Synonyms
  • "1q41-q42 microdeletion syndrome" EXACT
    "1q41q42 microdeletion syndrome" EXACT
Secondary IDs
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GARD:3738
ICD10CM:Q93.5
MIM:612530
ORDO:250999