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DO Term : chondrodysplasia Blomstrand type [DOID:0060387] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.
  • synonyms:
  • ORDO:50945,
  • NCI:C131420,
  • MESH:C537914,
  • GARD:914,
  • Blomstrand lethal chondrodysplasia,
  • OMIM:215045,
  • 215045,
  • UMLS_CUI:C1859148
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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