FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acrocallosal syndrome ID (Ontology) DOID:9250 (Human Disease)
Definition A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
Also Known As "ACLS" ; "SCHINZEL ACROCALLOSAL SYNDROME" ; "Schinzel syndrome 1"
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 Genes
 acrocallosal syndrome       2
 for disease ribbon | acrocallosal syndrome       2
 model of | acrocallosal syndrome       2
Spanning Tree (Parents/Children)
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polygenic disease
 |__digenic disease__
disease              |
 |__syndrome_________|
                     acrocallosal syndrome  2 rec.
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Is a digenic disease
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Synonyms
  • "ACLS" EXACT OMO:0003012
    "SCHINZEL ACROCALLOSAL SYNDROME" EXACT
    "Schinzel syndrome 1" EXACT
Secondary IDs
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GARD:5721
MESH:D055673
MIM:200990
NCI:C84531
SNOMEDCT_US_2023_03_01:715951007
UMLS_CUI:C0796147