Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
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

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/MTHU015182

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

http://purl.bioontology.org/ontology/OMIM/MTHU015186

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/MTHU015184

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/MTHU015185

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/MTHU015183

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

http://purl.bioontology.org/ontology/OMIM/MTHU015181

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
tui

T191

T028

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/MTHU020584 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C566023 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D004314 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D004314 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/LNC/LP70386-5 Logical Observation Identifier Names and Codes CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q90.9 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q90 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q90 International Classification of Diseases, 10th Edition, China CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2993 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C566025 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q90.9 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/LNC/LA20088-3 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA20088-3 Logical Observation Identifier Names and Codes LOOM
http://purl.obolibrary.org/obo/DOID_14250 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU010201 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/ICD10/Q90.9 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/C566024 Medical Subject Headings CUI