WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:14448 46,XY sex reversal Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
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:28 endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
DOID:2277 gonadal disease An endocrine system disease that is located_in the gonads.
DOID:1923 disorder of sexual development A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
DOID:14447 gonadal dysgenesis A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
DOID:14448 46,XY sex reversal A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

16 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:14448 DOID:0111769
is_a DOID:14448 DOID:0111770
is_a DOID:14448 DOID:0111771
is_a DOID:14448 DOID:0111772
is_a DOID:14448 DOID:0111773
is_a DOID:14448 DOID:0111774
is_a DOID:14448 DOID:0111775
is_a DOID:14448 DOID:0111776
is_a DOID:14448 DOID:0111777
is_a DOID:14448 DOID:0111778
is_a DOID:14447 DOID:14448
is_a DOID:1923 DOID:14448
is_a DOID:2277 DOID:14448
is_a DOID:7 DOID:14448
is_a DOID:28 DOID:14448
is_a DOID:4 DOID:14448

3 Synonyms

Name Type
46 XY gonadal dysgenesis synonym
Pure gonadal dysgenesis 46,XY synonym
Swyer syndrome synonym