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multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
Disease Summary
Associated Targets (3)
Tchem
1
Tbio
1
Tdark
1
Mondo Description Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.
Mondo Term and Equivalent IDs
MONDO:0016779: multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111712
Orphanet:254519
MONDO:0016779
High level summary of knowledge for a disease, including descriptions and datasource references.