Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Down Syndrome
Synonyms	Trisomy 21, Meiotic Nondisjunction Downs Syndrome Partial Trisomy 21 Down Syndrome Mongolism Trisomy 21, Mitotic Nondisjunction Syndrome, Down Syndrome, Down's 47,XX,+21 Trisomy G Trisomy 21 Down Syndrome, Partial Trisomy 21 47,XY,+21 Down's Syndrome
Definitions	A 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, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
ID	http://purl.bioontology.org/ontology/MESH/D004314
altLabel	Trisomy 21, Meiotic Nondisjunction Downs Syndrome Partial Trisomy 21 Down Syndrome Mongolism Trisomy 21, Mitotic Nondisjunction Syndrome, Down Syndrome, Down's 47,XX,+21 Trisomy G Trisomy 21 Down Syndrome, Partial Trisomy 21 47,XY,+21 Down's Syndrome
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0432416 C0432417 C0751081 C0013080
DC	1
definition	A 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, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
DX	19930101
HN	93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
Mapped from	http://purl.bioontology.org/ontology/MESH/C563551 http://purl.bioontology.org/ontology/MESH/C566024 http://purl.bioontology.org/ontology/MESH/C566023 http://purl.bioontology.org/ontology/MESH/C566025
MDA	19990101
MMR	20220523
MN	C16.131.260.260 C16.131.077.327 C16.320.180.260 C10.597.606.360.220
notation	D004314
OL	use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74
prefLabel	Down Syndrome
TERMUI	T841304 T369580 T013183 T369579 T369577 T845650 T845649 T013182 T369578 T013181 T013180
TH	OMIM (2013) NLM (2000) NLM (1993) BIOETHICS (1989) NLM (1992) GHR (2014)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D008607 http://purl.bioontology.org/ontology/MESH/D025063

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/RCD/X78El	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004314	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004314	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/254264002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254264002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10/Q90.0	ICD10	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004314	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205615000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/205615000	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/PJ00.	RCD	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/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/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.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://purl.bioontology.org/ontology/OMIM/190685	OMIM	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