Details of Disease | DrugMAP

General Information of Disease (ID: DIS0JJA7)

Disease Name	Short stature, Dauber-Argente type
Disease Hierarchy	DISPPN0O: Musculoskeletal disorder DIS0JJA7: Short stature, Dauber-Argente type
Disease Identifiers	MONDO ID MONDO_0859182 UMLS CUI C5561968 OMIM ID 619489 MedGen ID 1794178

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
PAPPA2	OTXYGTUZ	Strong	Autosomal recessive	[1]
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References

1	Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol Med. 2016 Apr 1;8(4):363-74. doi: 10.15252/emmm.201506106.