Details of Disease | DrugMAP

General Information of Disease (ID: DISC7J0Y)

Disease Name	Renal hypodysplasia/aplasia 4
Synonyms	renal hypodysplasia/aplasia 4; RHDA4
Disease Hierarchy	DIS0M9AF: Renal agenesis DISC7J0Y: Renal hypodysplasia/aplasia 4
Disease Identifiers	MONDO ID MONDO_0030822 UMLS CUI C5676993 OMIM ID 619887 MedGen ID 1808595

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
GFRA1	OT3WBVYB	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. J Am Soc Nephrol. 2021 Jan;32(1):223-228. doi: 10.1681/ASN.2020040478. Epub 2020 Oct 5.