WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080859 primary ovarian insufficiency 2B Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene.

1 Ontology

Name
Disease Ontology

13 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:229 female reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
DOID:15 reproductive system disease A disease of anatomical entity that is located_in reproductive system organs.
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:1100 ovarian disease A female reproductive system disease that is located_in the ovary.
DOID:5426 primary ovarian insufficiency An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
DOID:0080859 primary ovarian insufficiency 2B A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:5426 DOID:0080859
is_a DOID:0080012 DOID:0080859
is_a DOID:229 DOID:0080859
is_a DOID:7 DOID:0080859
is_a DOID:15 DOID:0080859
is_a DOID:0050735 DOID:0080859
is_a DOID:4 DOID:0080859
is_a DOID:28 DOID:0080859
is_a DOID:1100 DOID:0080859
is_a DOID:2277 DOID:0080859
is_a DOID:630 DOID:0080859
is_a DOID:0050177 DOID:0080859

0 Synonyms