Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617352 http://purl.bioontology.org/ontology/OMIM/617352
Preferred Name	MULCHANDANI-BHOJ-CONLIN SYNDROME
Synonyms	MBCS UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 20
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MBCS UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 20
prefLabel	MULCHANDANI-BHOJ-CONLIN SYNDROME
Gene Symbol	MBCS
Scope Statement	Contiguous gene syndrome caused by deletion of the paternal allele of the imprinted region at 20q11-q13 [MOLECULAR BASIS] All patients in age-appropriate mainstream classroom setting [MISCELLANEOUS] Linear growth acceleration seen after growth hormone therapy [MISCELLANEOUS] Majority of patients require chronic nasogastric feedings (infancy-early childhood) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071830 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000848 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU011930 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU000145 See more See less
tui	T047
Gene Locus	20q11-q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617352
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU063351
cui	C4275029
OMIM Entry Type	3
OMIM MimType Value	pound

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