Search Ontology:
Human Disease
autosomal recessive osteopetrosis 6
- Term ID
- DOID:0110945
- Synonyms
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- 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
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- GARD:4156
- MIM:611497
- Ontology
- Human Disease ( DOID:0110945 )
- is a type of
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Genes Involved
Zebrafish Models