Preferred Name

CHROMOSOME 18q DELETION SYNDROME

Synonyms

CHROMOSOME 18q- SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/601808

altLabel

CHROMOSOME 18q- SYNDROME

18q- SYNDROME

cui

C0432443

Gene Locus

18q

Gene Symbol

DEL18q

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU004603

http://purl.bioontology.org/ontology/OMIM/MTHU003763

http://purl.bioontology.org/ontology/OMIM/MTHU003622

http://purl.bioontology.org/ontology/OMIM/MTHU001174

http://purl.bioontology.org/ontology/OMIM/MTHU005735

http://purl.bioontology.org/ontology/OMIM/MTHU036370

http://purl.bioontology.org/ontology/OMIM/MTHU005733

http://purl.bioontology.org/ontology/OMIM/MTHU005738

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

http://purl.bioontology.org/ontology/OMIM/MTHU036327

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU005743

http://purl.bioontology.org/ontology/OMIM/MTHU005748

http://purl.bioontology.org/ontology/OMIM/MTHU005741

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU002108

http://purl.bioontology.org/ontology/OMIM/MTHU004635

http://purl.bioontology.org/ontology/OMIM/MTHU068315

http://purl.bioontology.org/ontology/OMIM/MTHU000259

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

http://purl.bioontology.org/ontology/OMIM/MTHU005757

http://purl.bioontology.org/ontology/OMIM/MTHU005751

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

http://purl.bioontology.org/ontology/OMIM/MTHU005755

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU004404

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU000269

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

http://purl.bioontology.org/ontology/OMIM/MTHU002342

http://purl.bioontology.org/ontology/OMIM/MTHU000036

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

http://purl.bioontology.org/ontology/OMIM/MTHU005727

http://purl.bioontology.org/ontology/OMIM/MTHU000137

http://purl.bioontology.org/ontology/OMIM/MTHU005725

http://purl.bioontology.org/ontology/OMIM/MTHU004817

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU005734

http://purl.bioontology.org/ontology/OMIM/MTHU005749

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU005737

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU025415

http://purl.bioontology.org/ontology/OMIM/MTHU001677

http://purl.bioontology.org/ontology/OMIM/MTHU005739

http://purl.bioontology.org/ontology/OMIM/MTHU005729

http://purl.bioontology.org/ontology/OMIM/MTHU003499

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

http://purl.bioontology.org/ontology/OMIM/MTHU005744

http://purl.bioontology.org/ontology/OMIM/MTHU005732

http://purl.bioontology.org/ontology/OMIM/MTHU005747

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU005742

http://purl.bioontology.org/ontology/OMIM/MTHU002163

http://purl.bioontology.org/ontology/OMIM/MTHU005730

http://purl.bioontology.org/ontology/OMIM/MTHU004822

http://purl.bioontology.org/ontology/OMIM/MTHU025414

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

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU005754

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000580

http://purl.bioontology.org/ontology/OMIM/MTHU002392

http://purl.bioontology.org/ontology/OMIM/MTHU005746

http://purl.bioontology.org/ontology/OMIM/MTHU005740

http://purl.bioontology.org/ontology/OMIM/MTHU000258

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

http://purl.bioontology.org/ontology/OMIM/MTHU004212

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

http://purl.bioontology.org/ontology/OMIM/MTHU003954

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU003537

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU005756

http://purl.bioontology.org/ontology/OMIM/MTHU005750

http://purl.bioontology.org/ontology/OMIM/MTHU000604

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

http://purl.bioontology.org/ontology/OMIM/MTHU000335

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU005728

http://purl.bioontology.org/ontology/OMIM/MTHU005726

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

601808

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CHROMOSOME 18q DELETION SYNDROME

Scope Statement

Some familial occurrence, most de novo aberrations [MISCELLANEOUS]

Estimated frequency of 1 in 40,000 live births [MISCELLANEOUS]

Caused by interstitial or terminal deletion of chromosome 18q [MOLECULAR BASIS]

Female preponderance [MISCELLANEOUS]

Highly variable phenotype, even within families [MISCELLANEOUS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0011147 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011147 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130984 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C536580 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/DOID_0060407 Human Disease Ontology / 人类疾病本体 LOOM