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DO Term : autosomal dominant osteopetrosis 2 [DOID:0110938] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
  • synonyms:
  • GARD:383,
  • osteopetrosis autosomal dominant type 2,
  • Albers-Schonberg osteopetrosis,
  • ORDO:53,
  • OMIM:166600,
  • OPTA2,
  • UMLS_CUI:C3179239,
  • SNOMEDCT_US_2023_03_01:725050005,
  • MESH:D010022,
  • 166600,
  • autosomal dominant osteopetrosis type II,
  • autosomal dominant Albers-Schonberg disease
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents