Details of Disease

General Information of Disease (ID: DISJ4TF1)

Disease Name Ectopia lentis et pupillae
Synonyms ectopia lentis with ectopia of pupil; ectopia lentis et pupillae
Disease Hierarchy
DISYKSRF: Genetic disease
DISJWTN6: Isolated ectopia lentis
DISJ4TF1: Ectopia lentis et pupillae
Disease Identifiers
MONDO ID
MONDO_0009153
MESH ID
C563268
UMLS CUI
C1644196
OMIM ID
225200
MedGen ID
301316
SNOMED CT ID
419237004

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
ADAMTSL4 OTBILJMW Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.