WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111772 46,XY sex reversal 3 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 that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
Paste the following link
Lists
This DiseaseOntology isn't in any lists. Upload a list.

1 Ontology

Name
Disease Ontology

12 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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex 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 complete gonadal dysgenesis 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:0111772 46,XY sex reversal 3 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.

11 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:14448 DOID:0111772
is_a DOID:0050736 DOID:0111772
is_a DOID:0050177 DOID:0111772
is_a DOID:630 DOID:0111772
is_a DOID:2277 DOID:0111772
is_a DOID:7 DOID:0111772
is_a DOID:0050739 DOID:0111772
is_a DOID:4 DOID:0111772
is_a DOID:28 DOID:0111772
is_a DOID:1923 DOID:0111772
is_a DOID:14447 DOID:0111772

5 Synonyms

Name Type
46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure synonym
46,XY sex reversal, partial or complete, NR5A1-related synonym
disorder of sex development, 46,XY, NR5A1-related synonym
sex reversal, XY, with or without adrenal failure synonym
SRXY3 synonym