FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lateral meningocele syndrome ID (Ontology) DOID:0111343 (Human Disease)
Definition A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.
Also Known As "Lehman syndrome"
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 Genes
 lateral meningocele syndrome       1
 for disease ribbon | lateral meningocele syndrome       1
 model of | lateral meningocele syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                lateral meningocele syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Lehman syndrome" EXACT
Secondary IDs
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GARD:9873
MESH:C537878
MIM:130720
ORDO:2789
UMLS_CUI:C1851710