WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080776 partial androgen insensitivity syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.

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: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:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0080012 X-linked recessive disease A X-linked monogenic disease that has_material_basis_in recessive inheritance.
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:4674 androgen insensitivity syndrome A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
DOID:0080776 partial androgen insensitivity syndrome An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080012 DOID:0080776
is_a DOID:4674 DOID:0080776
is_a DOID:0050177 DOID:0080776
is_a DOID:1923 DOID:0080776
is_a DOID:4 DOID:0080776
is_a DOID:630 DOID:0080776
is_a DOID:0050735 DOID:0080776
is_a DOID:28 DOID:0080776
is_a DOID:7 DOID:0080776
is_a DOID:2277 DOID:0080776

1 Synonyms

Name Type
Reifenstein syndrome synonym