Details of Disease | DrugMAP

General Information of Disease (ID: DISYR83H)

Disease Name	Autosomal recessive osteopetrosis 8
Synonyms	osteopetrosis, autosomal recessive 8; SNX10 autosomal recessive osteopetrosis; osteopetrosis, autosomal recessive type 8; SNX10 autosomal recessive malignant osteopetrosis; autosomal recessive osteopetrosis caused by mutation in SNX10; OPTB8; autosomal recessive malignant osteopetrosis caused by mutation in SNX10; autosomal recessive osteopetrosis type 8
Definition	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.
Disease Hierarchy	DIS8C3LZ: Infantile malignant osteopetrosis DISYR83H: Autosomal recessive osteopetrosis 8
Disease Identifiers	MONDO ID MONDO_0014040 UMLS CUI C3554478 OMIM ID 615085 MedGen ID 767392

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNX10	OT05B7BT	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.