Details of Disease

General Information of Disease (ID: DISLZ3VA)

Disease Name Obesity due to CEP19 deficiency
Synonyms MOSPGF; morbid obesity and spermatogenic failure
Disease Hierarchy
DISVH4OT: Inherited obesity
DISLZ3VA: Obesity due to CEP19 deficiency
Disease Identifiers
MONDO ID
MONDO_0014309
UMLS CUI
C3810324
OMIM ID
615703
MedGen ID
816654
Orphanet ID
397615

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
CEP19 OTL2WXOR 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.