WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111771 46,XY sex reversal 4 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.

1 Ontology

Name
Disease Ontology

11 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:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0060388 chromosomal deletion syndrome A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
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.
DOID:0111771 46,XY sex reversal 4 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:14448 DOID:0111771
is_a DOID:0060388 DOID:0111771
is_a DOID:630 DOID:0111771
is_a DOID:2277 DOID:0111771
is_a DOID:0080014 DOID:0111771
is_a DOID:4 DOID:0111771
is_a DOID:7 DOID:0111771
is_a DOID:1923 DOID:0111771
is_a DOID:28 DOID:0111771
is_a DOID:14447 DOID:0111771

3 Synonyms

Name Type
46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion synonym
chromosome 9p24.3 deletion syndrome synonym
SRXY4 synonym