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DO Term : spondylometaphyseal dysplasia Sedaghatian type [DOID:0112298] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3.
  • synonyms:
  • ORDO:93317,
  • OMIM:250220,
  • MESH:C535798,
  • Sedaghatian chondrodysplasia,
  • GARD:4993,
  • UMLS_CUI:C1855229,
  • congenital lethal metaphyseal chondrodysplasia,
  • 250220,
  • SMDS
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