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DO Term : autosomal dominant osteopetrosis 1 [DOID:0110937] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.
  • synonyms:
  • OPTA1,
  • OMIM:607634,
  • MESH:C536056,
  • autosomal dominant osteopetrosis type 1,
  • UMLS_CUI:C1843330,
  • 607634,
  • ORDO:2783
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents