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Preferred Name

DOWN SYNDROME
Synonyms

TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME
ID

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

TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME

TRISOMY 21

DCR

LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME

DOWN SYNDROME CRITICAL REGION

DOWN SYNDROME CHROMOSOME REGION

DSCR
cui

C1860788

C1860787

C1860789

C0013080

C1860786
Gene Locus

Xp11.23
Gene Symbol

XLTT

GATA1

HAEADA

ERYF1

XLTDA

NFE1

XLANP

GF1
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
Moved from

264450
notation

190685
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DOWN SYNDROME
Scope Statement

Translocation 21, 3.3% [MOLECULAR BASIS]

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

Mosaic trisomy 21, 2.4% [MOLECULAR BASIS]

Increased recurrence risk with parental translocation [MISCELLANEOUS]

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

Full trisomy 21, 94% [MOLECULAR BASIS]
tui

T191

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP74785-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/MTHU020584 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C566023 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D004314 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D004314 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q90.9 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q90 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q90 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2993 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_870 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C566025 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90.9 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.obolibrary.org/obo/MONDO_0008608 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://www.ebi.ac.uk/efo/EFO_0001064 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/LNC/LA20088-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LA20088-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/DOID_14250 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_14250 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU010201 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10/Q90.9 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/MESH/C566024 Medical Subject Headings / 医学主题词表 CUI