Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CRI-DU-CHAT SYNDROME
Synonyms

CAT CRY SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/123450
altLabel

CAT CRY SYNDROME

CHROMOSOME 5p DELETION SYNDROME
cui

C0010314
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067101

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

http://purl.bioontology.org/ontology/OMIM/MTHU004614

http://purl.bioontology.org/ontology/OMIM/MTHU067107

http://purl.bioontology.org/ontology/OMIM/MTHU001504

http://purl.bioontology.org/ontology/OMIM/MTHU036427

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU067100

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

http://purl.bioontology.org/ontology/OMIM/MTHU002106

http://purl.bioontology.org/ontology/OMIM/MTHU000136

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

http://purl.bioontology.org/ontology/OMIM/MTHU022819

http://purl.bioontology.org/ontology/OMIM/MTHU037135

http://purl.bioontology.org/ontology/OMIM/MTHU004124

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU001907

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

http://purl.bioontology.org/ontology/OMIM/MTHU005530

http://purl.bioontology.org/ontology/OMIM/MTHU000088

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

http://purl.bioontology.org/ontology/OMIM/MTHU011667

http://purl.bioontology.org/ontology/OMIM/MTHU043125

http://purl.bioontology.org/ontology/OMIM/MTHU000681

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

http://purl.bioontology.org/ontology/OMIM/MTHU004110

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

http://purl.bioontology.org/ontology/OMIM/MTHU067103

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

http://purl.bioontology.org/ontology/OMIM/MTHU067105

http://purl.bioontology.org/ontology/OMIM/MTHU006930

http://purl.bioontology.org/ontology/OMIM/MTHU000249

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

http://purl.bioontology.org/ontology/OMIM/MTHU009268

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

http://purl.bioontology.org/ontology/OMIM/MTHU009863

http://purl.bioontology.org/ontology/OMIM/MTHU067104

http://purl.bioontology.org/ontology/OMIM/MTHU037926

http://purl.bioontology.org/ontology/OMIM/MTHU067106

http://purl.bioontology.org/ontology/OMIM/MTHU067102

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU003860

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

http://purl.bioontology.org/ontology/OMIM/MTHU037109

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001183

http://purl.bioontology.org/ontology/OMIM/MTHU000199

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

http://purl.bioontology.org/ontology/OMIM/MTHU000589

http://purl.bioontology.org/ontology/OMIM/MTHU006871

http://purl.bioontology.org/ontology/OMIM/MTHU003629

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

Phenotype description, molecular basis known.
notation

123450
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CRI-DU-CHAT SYNDROME
Scope Statement

Unbalanced parental translocation in 10-15% patients [MISCELLANEOUS]

De novo deletion in 85% patients [MISCELLANEOUS]

Contiguous gene syndrome caused by deletion of 560 kb to 40 Mb on chromosome 5p15.2 [MOLECULAR BASIS]

Incidence 1/50,000 newborns [MISCELLANEOUS]

Paternal origin in 80-90% patients [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q93.4 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10011385 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/1254-8011 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/70173007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D003410 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10011385 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D003410 MESH CUI
http://purl.bioontology.org/ontology/ICD9CM/758.31 ICD9CM CUI
http://purl.bioontology.org/ontology/SCTSPA/70173007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-02052 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10011385 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10/Q93.4 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/PJ31. RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000872 NDFRT CUI
http://purl.obolibrary.org/obo/MONDO_0007404 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007404 EFO LOOM
http://id.nlm.nih.gov/mesh/D003410 MDM LOOM
http://purl.obolibrary.org/obo/DOID_12580 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12580 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12580 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12580 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12580 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12580 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12580 FNS-H LOOM
http://purl.jp/bio/4/id/200906081478206301 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.180 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0004705 OMIT LOOM
http://purl.bioontology.org/ontology/CSP/1254-8011 CRISP LOOM
http://purl.bioontology.org/ontology/MESH/D003410 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C34518 BERO LOOM
http://purl.bioontology.org/ontology/ICD9CM/758.31 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/758.31 NLMVS LOOM
http://www.projecthalo.com/aura#Cri-Du-Chat-Syndrome AURA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.190 RH-MESH LOOM
http://purl.obolibrary.org/obo/GSSO_006994 GSSO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010314 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003410 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PJ31.00 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34518 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.190 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12580 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10011385 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040027 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.262 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007404 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3450 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/PJ31. RCD LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_120 ASDPTO LOOM