Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Klinefelter syndrome

Synonyms

XXY syndrome

Definitions

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

GARD:8705

ICD9CM:758.7

UMLS_CUI:C0022735

MESH:D007713

SNOMEDCT_US_2022_09_01:405770005

ICD10CM:Q98.0

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

XXY syndrome

Klinefelter's syndrome

XXY trisomy

Hypogonadotropic Hypogonadism

47, XXY

has_obo_namespace

disease_ontology

id

DOID:1921

in_subset

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

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

label

Klinefelter syndrome

notation

DOID:1921

prefLabel

Klinefelter syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0060429

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http://purl.obolibrary.org/obo/MONDO_0006823 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D007713 Medical Subject Headings / 医学主题词表 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34752 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/DOID_1921 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_1921 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.bioontology.org/ontology/OMIM/MTHU028322 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM