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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Mulchandani-Bhoj-Conlin syndrome
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Accession:DOID:0111714 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MBCS;   UPD(20)mat;   maternal UPD(20);   maternal uniparental disomy of chromosome 20
 primary_id: OMIM:617352
 xref: ORDO:96186


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  disease 21128
    syndrome 10833
      Mulchandani-Bhoj-Conlin syndrome 0
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