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Preferred Name

Downs syndrome
Synonyms

trisomy 21 syndrome
Definitions

chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21; clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, and moderate to severe mental retardation.
ID

http://purl.bioontology.org/ontology/CSP/1254-8068
altLabel

trisomy 21 syndrome

Down syndrome

mongolism
cui

C0013080
definition

chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21; clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, and moderate to severe mental retardation.
DID

1254-8068
Inverse of RB

http://purl.bioontology.org/ontology/CSP/1840-2225

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/1254-7954
Inverse of RO

http://purl.bioontology.org/ontology/CSP/4005-0011

http://purl.bioontology.org/ontology/CSP/1849-1519
notation

1254-8068
prefLabel

Downs syndrome
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/1840-2225

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/1254-7954
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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/OMIM/190685 OMIM 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/LNC/LA20088-3 LOINC CUI
http://purl.bioontology.org/ontology/ICD9CM/758.0 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/758.0 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10/Q90 ICD10 LOOM
http://purl.bioontology.org/ontology/LNC/LP74785-4 LOINC LOOM
http://purl.obolibrary.org/obo/Downs_Syndrome NND_ND LOOM
http://www.ebi.ac.uk/efo/EFO_0001064 CLO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10013616 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/XE1MZ RCD LOOM
http://purl.bioontology.org/ontology/LNC/MTHU020584 LOINC LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090502 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_20090502 NIFSTD LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Downs_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Downs_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Downs_Syndrome EPISEM LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Down's_Syndrome APAEDUCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Down's_Syndrome APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Down's_Syndrome APAONTO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14250 NATPRO LOOM