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DO Term : acrocallosal syndrome [DOID:9250] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:715951007,
  • 200990,
  • UMLS_CUI:C0796147,
  • NCI:C84531,
  • SCHINZEL ACROCALLOSAL SYNDROME,
  • GARD:5721,
  • ACLS,
  • Schinzel syndrome 1,
  • OMIM:200990,
  • MESH:D055673
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents