Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/606528 http://purl.bioontology.org/ontology/OMIM/606528
Preferred Name	HOMOZYGOUS 11p15-p14 DELETION SYNDROME
Synonyms	HYPERINSULINISM, INFANTILE, WITH ENTEROPATHY AND DEAFNESS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HYPERINSULINISM, INFANTILE, WITH ENTEROPATHY AND DEAFNESS
prefLabel	HOMOZYGOUS 11p15-p14 DELETION SYNDROME
Gene Symbol	C11DELp15p14 DEL11p15p14
Scope Statement	Contiguous gene syndrome caused by homozygous deletion of approximately 122Kb on chromosome 11p15-p14 [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003978 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU003984 http://purl.bioontology.org/ontology/OMIM/MTHU003983 http://purl.bioontology.org/ontology/OMIM/MTHU003977 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU003980 http://purl.bioontology.org/ontology/OMIM/MTHU003982 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU003979 http://purl.bioontology.org/ontology/OMIM/MTHU003981 See more See less
tui	T047
Gene Locus	11p15-p14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	606528
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1847866
OMIM Entry Type	3
OMIM MimType Value	pound

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