Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

Klinefelter syndrome
Synonyms

Klinefelter's syndrome
Definitions

No OMIM mapping, confirmed by DO. [LS].
ID

http://purl.obolibrary.org/obo/DOID_1921
comment

No OMIM mapping, confirmed by DO. [LS].
database_cross_reference

MESH:D007713

ICD10CM:Q98.0

UMLS_CUI:C0022735

SNOMEDCT_US_2023_03_01:405770005

ICD9CM:758.7

GARD:8705

NCI:C34752
definition

A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
has exact synonym

Klinefelter's syndrome

47, XXY

XXY trisomy

Hypogonadotropic Hypogonadism

XXY syndrome
has_obo_namespace

disease_ontology
id

DOID:1921
in_subset

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

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

Klinefelter syndrome
notation

DOID:1921
prefLabel

Klinefelter syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0060429
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1921 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1921 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1921 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_1921 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1921 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1921 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0006823 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.875.253.795.500 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34752 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.482.629 RH-MESH LOOM
http://purl.jp/bio/4/id/200906080970637966 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C34752 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.706.316.795.500 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Klinefelter_s_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/DOID_1921 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1921 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1921 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1921 FNS-H LOOM
http://purl.bioontology.org/ontology/ICPC2P/A90007 ICPC2P LOOM
http://www.limics.org/hrdo/rdfns#pat_id_362 HRDO LOOM
http://purl.obolibrary.org/obo/OMIT_0008816 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU028322 OMIM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040062 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/OGMD_0000068 OGMD LOOM
http://purl.obolibrary.org/obo/MONDO_0006823 DOVES LOOM
http://nanbyodata.jp/ontology/NANDO_2200386 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007713 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/22053006 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D007713 MESH LOOM
http://www.projecthalo.com/aura#Klinefelter-Syndrome AURA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.830.835.500 RH-MESH LOOM
http://www.gamuts.net/entity#Klinefelter_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D4-02252 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.830.835.500 RH-MESH LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LD50.3 VODANADISEASES LOOM
http://www.co-ode.org/ontologies/galen#KlinefelterSyndrome GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.119.795.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.939.316.795.500 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14624 DERMLEX LOOM
http://www.limics.fr/ontologies/ontolurgences#SyndromeDeKlinefelter ONTOLURGENCES LOOM
http://www.gamuts.net/entity#hypogonadotropic_hypogonadism GAMUTS REST
http://www.gamuts.net/entity#Klinefelter_syndrome GAMUTS REST