FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Goldberg-Shprintzen syndrome ID (Ontology) DOID:0060481 (Human Disease)
Definition A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
Also Known As "Goldberg-Shprintzen megacolon syndrome"
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 Genes
 Goldberg-Shprintzen syndrome       1
 for disease ribbon | Goldberg-Shprintzen syndrome       1
 model of | Goldberg-Shprintzen syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Goldberg-Shprintzen syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Goldberg-Shprintzen megacolon syndrome" EXACT
Secondary IDs
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GARD:9849
MESH:C537279
MIM:609460
ORDO:66629
SNOMEDCT_US_2023_03_01:717822006
UMLS_CUI:C1836123