Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

KOOLEN-DE VRIES SYNDROME
Synonyms

KDVS
ID

http://purl.bioontology.org/ontology/OMIM/610443
altLabel

KDVS

MICRODELETION 17q21.31 SYNDROME

CHROMOSOME 17q21.31 DELETION SYNDROME
cui

C1864871
Gene Locus

17q21.31
Gene Symbol

KDVS

MSL1V1

KIAA1267

KANSL1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005792

http://purl.bioontology.org/ontology/OMIM/MTHU021911

http://purl.bioontology.org/ontology/OMIM/MTHU036757

http://purl.bioontology.org/ontology/OMIM/MTHU000507

http://purl.bioontology.org/ontology/OMIM/MTHU021927

http://purl.bioontology.org/ontology/OMIM/MTHU021931

http://purl.bioontology.org/ontology/OMIM/MTHU025207

http://purl.bioontology.org/ontology/OMIM/MTHU021925

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU039053

http://purl.bioontology.org/ontology/OMIM/MTHU039051

http://purl.bioontology.org/ontology/OMIM/MTHU002602

http://purl.bioontology.org/ontology/OMIM/MTHU021896

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

http://purl.bioontology.org/ontology/OMIM/MTHU021894

http://purl.bioontology.org/ontology/OMIM/MTHU001050

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

http://purl.bioontology.org/ontology/OMIM/MTHU058767

http://purl.bioontology.org/ontology/OMIM/MTHU021906

http://purl.bioontology.org/ontology/OMIM/MTHU021904

http://purl.bioontology.org/ontology/OMIM/MTHU058765

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU058769

http://purl.bioontology.org/ontology/OMIM/MTHU003461

http://purl.bioontology.org/ontology/OMIM/MTHU000267

http://purl.bioontology.org/ontology/OMIM/MTHU021902

http://purl.bioontology.org/ontology/OMIM/MTHU058763

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

http://purl.bioontology.org/ontology/OMIM/MTHU021898

http://purl.bioontology.org/ontology/OMIM/MTHU021918

http://purl.bioontology.org/ontology/OMIM/MTHU021916

http://purl.bioontology.org/ontology/OMIM/MTHU021910

http://purl.bioontology.org/ontology/OMIM/MTHU004733

http://purl.bioontology.org/ontology/OMIM/MTHU021932

http://purl.bioontology.org/ontology/OMIM/MTHU021920

http://purl.bioontology.org/ontology/OMIM/MTHU021926

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU025206

http://purl.bioontology.org/ontology/OMIM/MTHU021924

http://purl.bioontology.org/ontology/OMIM/MTHU058770

http://purl.bioontology.org/ontology/OMIM/MTHU021922

http://purl.bioontology.org/ontology/OMIM/MTHU021928

http://purl.bioontology.org/ontology/OMIM/MTHU001819

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

http://purl.bioontology.org/ontology/OMIM/MTHU021930

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU039050

http://purl.bioontology.org/ontology/OMIM/MTHU007688

http://purl.bioontology.org/ontology/OMIM/MTHU004136

http://purl.bioontology.org/ontology/OMIM/MTHU021903

http://purl.bioontology.org/ontology/OMIM/MTHU021909

http://purl.bioontology.org/ontology/OMIM/MTHU002343

http://purl.bioontology.org/ontology/OMIM/MTHU058768

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

http://purl.bioontology.org/ontology/OMIM/MTHU039052

http://purl.bioontology.org/ontology/OMIM/MTHU004285

http://purl.bioontology.org/ontology/OMIM/MTHU021895

http://purl.bioontology.org/ontology/OMIM/MTHU021893

http://purl.bioontology.org/ontology/OMIM/MTHU003535

http://purl.bioontology.org/ontology/OMIM/MTHU001852

http://purl.bioontology.org/ontology/OMIM/MTHU021919

http://purl.bioontology.org/ontology/OMIM/MTHU021913

http://purl.bioontology.org/ontology/OMIM/MTHU013237

http://purl.bioontology.org/ontology/OMIM/MTHU021901

http://purl.bioontology.org/ontology/OMIM/MTHU021907

http://purl.bioontology.org/ontology/OMIM/MTHU021905

http://purl.bioontology.org/ontology/OMIM/MTHU058766

http://purl.bioontology.org/ontology/OMIM/MTHU004024

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU058764

http://purl.bioontology.org/ontology/OMIM/MTHU021287

http://purl.bioontology.org/ontology/OMIM/MTHU021929

http://purl.bioontology.org/ontology/OMIM/MTHU021923

http://purl.bioontology.org/ontology/OMIM/MTHU021921

http://purl.bioontology.org/ontology/OMIM/MTHU021915

http://purl.bioontology.org/ontology/OMIM/MTHU058771
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

610443
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

KOOLEN-DE VRIES SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566476 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0050880 Human Disease Ontology 123 LOOM