Human Disease Ontology

Last uploaded: June 28, 2024
Preferred Name

familial medullary thyroid carcinoma

Synonyms

THYROID CARCINOMA, FAMILIAL MEDULLARY

Definitions

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. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050547

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:C536911

MIM:155240

definition

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.

has exact synonym

THYROID CARCINOMA, FAMILIAL MEDULLARY

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0050547

in_subset

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

familial medullary thyroid carcinoma

notation

DOID:0050547

prefLabel

familial medullary thyroid carcinoma

subClassOf

http://purl.obolibrary.org/obo/DOID_3973

http://purl.obolibrary.org/obo/DOID_0050736

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