multiple endocrine neoplasia type 4

Summary

DOID:0080137 - multiple endocrine neoplasia type 4

Disease Ontology Definition: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.

Synonyms: Multiple Endocrine Neoplasia, Type IV,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cdkn1b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012552 - multiple endocrine neoplasia type 4

MONDO:0012552 - multiple endocrine neoplasia type 4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), multiple endocrine neoplasia (is_a), syndrome (is_a)