FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term holoprosencephaly 12 ID (Ontology) DOID:0081398 (Human Disease)
Definition A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.
Also Known As "holoprosencephaly-12 with or without pancreatic agenesis"
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 Genes
 holoprosencephaly 12       1
 for disease ribbon | holoprosencephaly 12       1
 model of | holoprosencephaly 12       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_________
syndrome                               |
 |__holoprosencephaly__________________|
congenital nervous system abnormality  |
 |__holoprosencephaly__________________|
                                       holoprosencephaly 12  1 rec.
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Is a autosomal dominant disease
holoprosencephaly
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Synonyms
  • "holoprosencephaly-12 with or without pancreatic agenesis" EXACT
Secondary IDs
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MIM:618500