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DOID:0111714 - Mulchandani-Bhoj-Conlin syndrome
Disease Ontology Definition:A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.
Synonyms: MBCS, UPD(20)mat, maternal UPD(20), maternal uniparental disomy of chromosome 20,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)