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Metadata
ID DOID:0080137
Name multiple endocrine neoplasia type 4
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.
https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
Xrefs

OMIM:610755

Synonyms

Multiple Endocrine Neoplasia, Type IV [EXACT]

Parent Relationships

is_a multiple endocrine neoplasia

is_a autosomal dominant disease

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