Details of Disease

General Information of Disease (ID: DISI0F2Y)

Disease Name Renal hypodysplasia/aplasia 2
Synonyms RHDA2; renal agenesis (disease) caused by mutation in FGF20; renal hypodysplasia/aplasia type 2; renal hypodysplasia/aplasia 2; FGF20 renal agenesis (disease)
Definition Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.
Disease Hierarchy
DIS0M9AF: Renal agenesis
DISI0F2Y: Renal hypodysplasia/aplasia 2
Disease Identifiers
MONDO ID
MONDO_0014319
UMLS CUI
C3810359
OMIM ID
615721
MedGen ID
816689

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
FGF20 OTJIQ8YZ Limited Autosomal recessive [1]
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References

1 FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell. 2012 Jun 12;22(6):1191-207. doi: 10.1016/j.devcel.2012.04.018.