Search Ontology:
Human Disease
autosomal recessive osteopetrosis 2
- Term ID
- DOID:0110943
- Synonyms
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- mild autosomal recessive form osteopetrosis
- OPTB2
- osteoclast-poor osteopetrosis
- Definition
- An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. https://www.ncbi.nlm.nih.gov/pubmed/17632511
- References
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- GARD:4157
- MIM:259710
- Ontology
- Human Disease ( DOID:0110943 )
- is a type of
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Genes Involved
Zebrafish Models