Details of Disease

General Information of Disease (ID: DISZWIFS)

Disease Name Renal hypodysplasia/aplasia 3
Synonyms renal hypodysplasia/aplasia 3; RHDA3
Disease Hierarchy
DIS0M9AF: Renal agenesis
DISZWIFS: Renal hypodysplasia/aplasia 3
Disease Identifiers
MONDO ID
MONDO_0024520
UMLS CUI
C4540497
OMIM ID
617805
MedGen ID
1626497

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
GREB1L OTZTY5KQ Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24.