WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050547 familial medullary thyroid carcinoma Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.

1 Ontology

Name
Disease Ontology

18 Parents

Identifier Name Description
DOID:0050686 organ system cancer A cancer that is classified based on the organ it starts in.
DOID:162 cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:14566 disease of cellular proliferation A disease that is characterized by abnormally rapid cell division.
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:28 endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
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:50 thyroid gland disease An endocrine system disease that is located_in the thyroid.
DOID:305 carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
DOID:0050687 cell type cancer A cancer that is classified by the type of cell from which it is derived.
DOID:0050547 familial medullary thyroid carcinoma A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.
DOID:3973 medullary thyroid carcinoma A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
DOID:3963 thyroid gland carcinoma A thyroid gland cancer that has_material_basis_in epithelial cells.
DOID:170 endocrine gland cancer An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
DOID:1781 thyroid cancer An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage.

17 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0050547
is_a DOID:3973 DOID:0050547
is_a DOID:4 DOID:0050547
is_a DOID:14566 DOID:0050547
is_a DOID:630 DOID:0050547
is_a DOID:7 DOID:0050547
is_a DOID:305 DOID:0050547
is_a DOID:50 DOID:0050547
is_a DOID:0050739 DOID:0050547
is_a DOID:3963 DOID:0050547
is_a DOID:162 DOID:0050547
is_a DOID:0050687 DOID:0050547
is_a DOID:0050686 DOID:0050547
is_a DOID:0050177 DOID:0050547
is_a DOID:170 DOID:0050547
is_a DOID:1781 DOID:0050547
is_a DOID:28 DOID:0050547

1 Synonyms

Name Type
THYROID CARCINOMA, FAMILIAL MEDULLARY synonym