Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Down syndrome

Synonyms

Downs syndrome

trisomy 21 syndrome

G Trisomy

Down's syndrome

Down's syndrome - trisomy 21

Complete trisomy 21 syndrome (disorder)

Definitions

A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_14250

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

NCI:C2993

OMIM:190685

UMLS_CUI:C0013080

SNOMEDCT_US_2016_03_01:205614001

MESH:D004314

SNOMEDCT_US_2016_03_01:254263008

ICD10CM:Q90

ICD10CM:Q90.9

SNOMEDCT_US_2016_03_01:205618003

NCI:C101222

ICD9CM:758.0

SNOMEDCT_US_2016_03_01:157019002

SNOMEDCT_US_2016_03_01:41040004

definition

A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

has_exact_synonym

Downs syndrome

trisomy 21 syndrome

G Trisomy

Down's syndrome

Down's syndrome - trisomy 21

Complete trisomy 21 syndrome (disorder)

has_obo_namespace

disease_ontology

id

DOID:14250

in_subset

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

Down syndrome

notation

DOID:14250

prefLabel

Down syndrome

treeView

http://purl.obolibrary.org/obo/DOID_0080014

subClassOf

http://purl.obolibrary.org/obo/DOID_0080014

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICPC2P/A90001 ICPC2P LOOM
http://purl.jp/bio/4/id/200906084461038234 IOBC LOOM
http://neuromorpho.org/ontologies/experimentconditionH.owl#NMOOt_244 NMOBR LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14623 DERMLEX LOOM
http://purl.bioontology.org/ontology/GSSO/001812 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.327 RH-MESH LOOM
http://lod.nal.usda.gov/nalt/34444 FAST-TOPICAL LOOM
http://purl.bioontology.org/ontology/MESH/D004314 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.260 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.220 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q90 ICD10CM LOOM
http://id.loc.gov/authorities/subjects/sh85039232 FAST-TOPICAL LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.260 RH-MESH LOOM
http://doe-generated-ontology.com/OntoAD#C0013080 ONTOAD LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Down_Syndrome PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2993 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_870 ORDO LOOM
http://purl.obolibrary.org/obo/OGMD_0000065 OGMD LOOM
http://localhost/plosthes.2017-1#5558 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0008608 MONDO LOOM
http://www.shojaee.com/shr/shr.owl#Down_Syndrome SHR LOOM
http://www.projecthalo.com/aura#Down-Syndrome AURA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_116 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004314 RH-MESH LOOM
http://www.ebi.ac.uk/efo/EFO_0001064 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0001064 EFO LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_181 ASDPTO LOOM
http://purl.bioontology.org/ontology/OMIM/190685 OMIM LOOM
http://purl.bioontology.org/ontology/LNC/LA20088-3 LOINC LOOM
http://purl.obolibrary.org/obo/DOID_14250 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14250 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_14250 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14250 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14250 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14250 NIFSTD SAME_URI
http://www.co-ode.org/ontologies/galen#DownSyndrome GALEN LOOM