WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050739
Child Term . Identifier  DOID:0080137 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0080137 multiple endocrine neoplasia type 4 A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked.

1 Parent Term

Identifier Name Description
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.