Preferred Name

Klinefelter Syndrome
Synonyms
Definitions

A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.

ID

http://purl.obolibrary.org/obo/NCIT_C34752

ALT_DEFINITION

A genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer.

A condition caused by the presence of an extra X chromosome resulting in 47,XXY karyotype in an individual with male phenotype. The condition is characterized in childhood by relative tall stature with disproportionately long limbs, and speech/language developmental problems in some patients. Postpubertal findings include small testes, gynecomastia, and infertility.

code

C34752

Contributing_Source

Cellosaurus

NICHD

PCDC

definition

A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.

in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C118467

http://purl.obolibrary.org/obo/NCIT_C177391

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C99147

http://purl.obolibrary.org/obo/NCIT_C177383

Is_PCDC_GCT_Permissible_Value_For_Variable

http://purl.obolibrary.org/obo/NCIT_C18772

label

Klinefelter Syndrome

Legacy Concept Name

Klinefelter_s_Syndrome

Preferred_Name

Klinefelter Syndrome

prefixIRI

NCIT:C34752

prefLabel

Klinefelter Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0022735

subClassOf

http://purl.obolibrary.org/obo/NCIT_C27564

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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://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 DOID 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 DDSS 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
rgo:13254 GAMUTS 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://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