Details of Disease

General Information of Disease (ID: DISCVMI9)

Disease Name Nanophthalmos 2
Synonyms NNO2; nanophthalmos, autosomal recessive; Nanophthalmia 2; nanophthalmia caused by mutation in MFRP; nanophthalmos type 2; nanophthalmos 2; MFRP nanophthalmia
Definition Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.
Disease Hierarchy
DISIULDO: Nanophthalmia
DISCVMI9: Nanophthalmos 2
Disease Identifiers
MONDO ID
MONDO_0012299
MESH ID
C563700
UMLS CUI
C1836006
OMIM ID
609549
MedGen ID
372177

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
MFRP OTHY9ZA5 Definitive Autosomal recessive [1]
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References

1 A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. Am J Ophthalmol. 2008 Aug;146(2):323-328. doi: 10.1016/j.ajo.2008.04.029. Epub 2008 Jun 13.