autosomal recessive osteopetrosis 6

Term ID

DOID:0110945

Synonyms

• autosomal recessive osteopetrosis intermediate form
• OPTB6

Definition

An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. https://www.ncbi.nlm.nih.gov/pubmed/17404618

References

• GARD:4156
• OMIM:611497

Ontology

Human Disease   ( DOID:0110945 )