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Preferred Name

JACOBSEN SYNDROME
Synonyms

CHROMOSOME 11q DELETION SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/147791
altLabel

CHROMOSOME 11q DELETION SYNDROME

PARTIAL 11q MONOSOMY SYNDROME

JBS
cui

C0795841
Gene Locus

11q23.3-q25
Gene Symbol

JBS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU024145

http://purl.bioontology.org/ontology/OMIM/MTHU001745

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU017667

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU010004

http://purl.bioontology.org/ontology/OMIM/MTHU009578

http://purl.bioontology.org/ontology/OMIM/MTHU017665

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU015204

http://purl.bioontology.org/ontology/OMIM/MTHU024146

http://purl.bioontology.org/ontology/OMIM/MTHU007644

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU003056

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU036446

http://purl.bioontology.org/ontology/OMIM/MTHU024144

http://purl.bioontology.org/ontology/OMIM/MTHU002370

http://purl.bioontology.org/ontology/OMIM/MTHU024142

http://purl.bioontology.org/ontology/OMIM/MTHU017666

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU002512

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU036885

http://purl.bioontology.org/ontology/OMIM/MTHU017668

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU004401

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU003108

http://purl.bioontology.org/ontology/OMIM/MTHU007643

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU002185

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU000059

http://purl.bioontology.org/ontology/OMIM/MTHU024143

http://purl.bioontology.org/ontology/OMIM/MTHU024147

http://purl.bioontology.org/ontology/OMIM/MTHU009674
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

147791
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

JACOBSEN SYNDROME
Scope Statement

75% of affected individuals are female [MISCELLANEOUS]

Incidence of 1 in 100,000 births [MISCELLANEOUS]

Contiguous gene deletion syndrome [MISCELLANEOUS]

Caused by a deletion of 11q23 [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75457 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/D054868 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_2308 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0111723 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007838 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007838 Experimental Factor Ontology / 实验性因素本体 LOOM