You are using an outdated browser. Please upgrade your browser to improve your experience.
maternal uniparental disomy of chromosome 14
Disease Summary
Associated Targets ()
Mondo Description Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).
Mondo Term and Equivalent IDs
MONDO:0019915: maternal uniparental disomy of chromosome 14
Orphanet:96184:
Use Cases
Submit Feedback
Download Data for maternal uniparental disomy of chromosome 14
data still loading...
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.
Orphanet:96184
MONDO:0019915
High level summary of knowledge for a disease, including descriptions and datasource references.