WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050177
Child Term . Identifier  DOID:0080873 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0080873 primary ovarian insufficiency 16 A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.

1 Parent Term

Identifier Name Description
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.