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DO Term : autosomal recessive osteopetrosis 6 [DOID:0110945] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
  • synonyms:
  • 611497,
  • GARD:4156,
  • autosomal recessive osteopetrosis intermediate form,
  • OMIM:611497,
  • OPTB6
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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





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