Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

DOWN SYNDROME
Synonyms

TRISOMY 21

DOWN SYNDROME CRITICAL REGION

DCR

DSCR

DOWN SYNDROME CHROMOSOME REGION
ID

http://purl.bioontology.org/ontology/OMIM/190685
altLabel

TRISOMY 21

DOWN SYNDROME CRITICAL REGION

DCR

DSCR

DOWN SYNDROME CHROMOSOME REGION
cui

C1860786

C1860787

C0013080
Gene Locus

21q22.3
Gene Symbol

DCR

DSCR
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU015178

http://purl.bioontology.org/ontology/OMIM/MTHU007694

http://purl.bioontology.org/ontology/OMIM/MTHU015172

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU010262

http://purl.bioontology.org/ontology/OMIM/MTHU015173

http://purl.bioontology.org/ontology/OMIM/MTHU001453

http://purl.bioontology.org/ontology/OMIM/MTHU015171

http://purl.bioontology.org/ontology/OMIM/MTHU001447

http://purl.bioontology.org/ontology/OMIM/MTHU004582

http://purl.bioontology.org/ontology/OMIM/MTHU003463

http://purl.bioontology.org/ontology/OMIM/MTHU007711

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU037186

http://purl.bioontology.org/ontology/OMIM/MTHU015175

http://purl.bioontology.org/ontology/OMIM/MTHU007265

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

http://purl.bioontology.org/ontology/OMIM/MTHU015180

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU000264

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

http://purl.bioontology.org/ontology/OMIM/MTHU015179

http://purl.bioontology.org/ontology/OMIM/MTHU015174

http://purl.bioontology.org/ontology/OMIM/MTHU003439

http://purl.bioontology.org/ontology/OMIM/MTHU009599

http://purl.bioontology.org/ontology/OMIM/MTHU002670

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

http://purl.bioontology.org/ontology/OMIM/MTHU009953

http://purl.bioontology.org/ontology/OMIM/MTHU008662
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

264450
notation

190685
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DOWN SYNDROME
Scope Statement

Increased recurrence risk with parental translocation [MISCELLANEOUS]

Mosaic trisomy 21, 2.4% [MOLECULAR BASIS]

Translocation 21, 3.3% [MOLECULAR BASIS]

Incidence, 1 in 650-1000 live births [MISCELLANEOUS]

Meiotic origin >95% maternal, mostly meiosis I [MISCELLANEOUS]

Full trisomy 21, 94% [MOLECULAR BASIS]
tui

T047

T033
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566023 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10027816 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10013616 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027816 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-02214 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10044688 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/758.0 ICD9CM CUI
http://purl.bioontology.org/ontology/ICD10/Q90 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/Q90.9 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10044688 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/41040004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/737542000 SCTSPA CUI
http://purl.bioontology.org/ontology/WHOFRE/0697 WHOFRE CUI
http://purl.bioontology.org/ontology/LNC/LP74785-4 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10027816 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90.9 ICD10CM CUI
http://purl.bioontology.org/ontology/CST/MENTAL%20RETARD COSTART CUI
http://purl.bioontology.org/ontology/ICPC2P/A90001 ICPC2P CUI
http://purl.bioontology.org/ontology/MESH/D004314 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10013616 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/737542000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D004314 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10044688 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/41040004 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000996 NDFRT CUI
http://purl.bioontology.org/ontology/WHO/0697 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRGER/10042801 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10042801 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10013616 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/XE1MZ RCD CUI
http://purl.bioontology.org/ontology/LNC/MTHU020584 LOINC CUI
http://purl.bioontology.org/ontology/LNC/MTHU010201 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10042801 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/1254-8068 CRISP CUI
http://purl.bioontology.org/ontology/LNC/LA20088-3 LOINC CUI
http://purl.obolibrary.org/obo/MONDO_0008608 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14250 DOID LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q90 ICD10CM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14623 DERMLEX LOOM
http://localhost/plosthes.2017-1#5558 PLOSTHES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0013080 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_2200965 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.220 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#DownSyndrome GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.327 RH-MESH LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_181 ASDPTO LOOM
http://www.shojaee.com/shr/shr.owl#Down_Syndrome SHR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.260 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Down_Syndrome PEDTERM LOOM
http://purl.obolibrary.org/obo/OGMD_0000065 OGMD LOOM
http://purl.bioontology.org/ontology/ICPC2P/A90001 ICPC2P LOOM
http://doe-generated-ontology.com/OntoAD#C0013080 ONTOAD LOOM
http://purl.bioontology.org/ontology/MESH/D004314 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0005570 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_870 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008608 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2993 NCIT LOOM
http://www.ebi.ac.uk/efo/EFO_0001064 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0001064 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.260 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14250 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14250 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14250 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14250 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_14250 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14250 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14250 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14250 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C2993 BERO LOOM
http://www.projecthalo.com/aura#Down-Syndrome AURA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040029 PMAPP-PMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_116 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4101 OCHV LOOM
http://neuromorpho.org/ontologies/experimentconditionH.owl#NMOOt_244 NMOBR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004314 RH-MESH LOOM
http://purl.jp/bio/4/id/200906084461038234 IOBC LOOM
http://purl.obolibrary.org/obo/GSSO_001812 GSSO LOOM
http://www.semanticweb.org/mypc/ontologies/2022/11/USBirthOnto-22#DownSyndrome BIRTHONTO LOOM
http://purl.bioontology.org/ontology/LNC/LA20088-3 LOINC LOOM