WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:1921 Klinefelter syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.

1 Ontology

Name
Disease Ontology

5 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:0060429 chromosomal duplication syndrome A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
DOID:1921 Klinefelter syndrome A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.

4 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060429 DOID:1921
is_a DOID:0080014 DOID:1921
is_a DOID:630 DOID:1921
is_a DOID:4 DOID:1921

5 Synonyms

Name Type
XXY trisomy synonym
47, XXY synonym
Hypogonadotropic Hypogonadism synonym
Klinefelter's syndrome synonym
XXY syndrome synonym