Details of Disease

General Information of Disease (ID: DIS34PZB)

Disease Name Nanophthalmos 4
Synonyms Nanophthalmia 4; NNO4; nanophthalmos type 4; nanophthalmia caused by mutation in TMEM98; TMEM98 nanophthalmia; nanophthalmos 4
Definition Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.
Disease Hierarchy
DISIULDO: Nanophthalmia
DIS34PZB: Nanophthalmos 4
Disease Identifiers
MONDO ID
MONDO_0014426
UMLS CUI
C4014848
OMIM ID
615972
MedGen ID
863285

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
TMEM98 OTKDUEED Strong Autosomal dominant [1]
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References

1 Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. JAMA Ophthalmol. 2014 Aug;132(8):970-7. doi: 10.1001/jamaophthalmol.2014.946.