WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111760 46,XX sex reversal Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.

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:0111760 46,XX sex reversal A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0111760 DOID:0080943
is_a DOID:14447 DOID:0111760
is_a DOID:2277 DOID:0111760
is_a DOID:4 DOID:0111760
is_a DOID:7 DOID:0111760
is_a DOID:1923 DOID:0111760
is_a DOID:28 DOID:0111760
is_a DOID:0111760 DOID:0111761
is_a DOID:0111760 DOID:0111762
is_a DOID:0111760 DOID:0111763
is_a DOID:0111760 DOID:0111764

5 Synonyms

Name Type
De la Chapelle syndrome synonym
SRXX synonym
XX, male syndrome synonym
46,XX testicular disorder of sex development synonym
46,XX testicular DSD synonym