Details of Disease

General Information of Disease (ID: DIS3ITB6)

Disease Name Isolated osteopoikilosis
Synonyms isolated osteopoikilosis (disease); nonsyndromic osteopoikilosis (disease)
Definition A osteopoikilosis (disease) that is not part of a larger syndrome.
Disease Hierarchy
DISXDBD8: Osteopoikilosis
DIS3ITB6: Isolated osteopoikilosis
Disease Identifiers
MONDO ID
MONDO_0015634
MESH ID
C563484
UMLS CUI
C1833699
MedGen ID
318940
Orphanet ID
166119
SNOMED CT ID
1231182008

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
LEMD3 OTILAM4I Supportive Autosomal dominant [1]
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References

1 Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. J Endocrinol Invest. 2016 Jun;39(6):679-85. doi: 10.1007/s40618-015-0419-z. Epub 2015 Dec 22.