WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:10017 multiple endocrine neoplasia type 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.

1 Ontology

Name
Disease Ontology

8 Parents

Identifier Name Description
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:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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.
DOID:3125 multiple endocrine neoplasia A syndrome that is characterized by tumors in at least two endocrine glands.
DOID:10017 multiple endocrine neoplasia type 1 A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:10017
is_a DOID:3125 DOID:10017
is_a DOID:0050739 DOID:10017
is_a DOID:630 DOID:10017
is_a DOID:0050177 DOID:10017
is_a DOID:225 DOID:10017
is_a DOID:4 DOID:10017

3 Synonyms

Name Type
MEN type I synonym
Wermer syndrome synonym
Wermer's syndrome synonym