Details of Disease | DrugMAP

General Information of Disease (ID: DISF89YZ)

Disease Name	Autosomal recessive osteopetrosis 5
Synonyms	osteopetrosis, autosomal recessive 5; osteopetrosis, infantile malignant 3; osteopetrosis autosomal recessive 5; osteopetrosis infantile malignant 3; OPTB5; osteopetrosis, autosomal recessive type 5; osteopetrosis (disease) caused by mutation in OSTM1; autosomal recessive osteopetrosis 5; OSTM1 osteopetrosis (disease); autosomal recessive osteopetrosis type 5; infantile malignant osteopetrosis 3
Definition	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.
Disease Hierarchy	DIS0NIDC: Infantile osteopetrosis with neuroaxonal dysplasia DIS7GHNM: Osteopetrosis DIS8C3LZ: Infantile malignant osteopetrosis DISF89YZ: Autosomal recessive osteopetrosis 5
Disease Identifiers	MONDO ID MONDO_0009817 MESH ID C566883 UMLS CUI C1968603 OMIM ID 259720 MedGen ID 409627

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
OSTM1	OTKNJDH7	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

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.