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DO Term : spondylometaphyseal dysplasia type A4 [DOID:0112301] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.
  • synonyms:
  • GARD:458,
  • 609052,
  • UMLS_CUI:C1836862,
  • SNOMEDCT_US_2023_03_01:782912001,
  • ORDO:168555,
  • OMIM:609052,
  • MESH:C563803
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Ontology Term --> Direct children

Ontology Term --> Direct parents