Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

DOWN SYNDROME
Synonyms

TRISOMY 21
ID

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

TRISOMY 21

DOWN SYNDROME CRITICAL REGION

DCR

DSCR

LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME

DOWN SYNDROME CHROMOSOME REGION

TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME
cui

C1860786

C1860789

C1860787

C0013080

C1860788
Gene Locus

Xp11.23
Gene Symbol

HAEADA

XLTT

XLTDA

GATA1

ERYF1

GF1

XLANP

NFE1
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

T191
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566025 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566023 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566024 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://www.ebi.ac.uk/efo/EFO_0001064 EFO LOOM
http://purl.obolibrary.org/obo/DOID_14250 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008608 MONDO 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://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://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 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 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