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DO Term : achondrogenesis type II [DOID:0080056] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
  • synonyms:
  • GARD:8713,
  • MESH:C536017,
  • OMIM:200610,
  • 200610
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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