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Disease Ontology Browser
Mulchandani-Bhoj-Conlin syndrome (DOID:0111714)
Alliance: disease page
Synonyms: maternal uniparental disomy of chromosome 20; maternal UPD(20); MBCS; UPD(20)mat
Alt IDs: OMIM:617352, ORDO:96186, UMLS_CUI:C4275029
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory