Details of Disease | DrugMAP

General Information of Disease (ID: DISI6LCA)

Disease Name	Osteoporosis, childhood- or juvenile-onset, with developmental delay
Disease Hierarchy	DISYKSRF: Genetic disease DISI6LCA: Osteoporosis, childhood- or juvenile-onset, with developmental delay
Disease Identifiers	MONDO ID MONDO_0859253 UMLS CUI C5676992 OMIM ID 619884 MedGen ID 1802083

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
COPB2	OT82JIGC	Strong	Autosomal dominant	[1]
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References

1	COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26.