Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
thick white exudate on tongue	SYMP_0000650
leukoplakia of penis	DOID_8738
obsolete metastatic carcinoma to the uterine cervix	DOID_7407
obsolete monocular esotropia with A pattern	DOID_10295
mitochondrial DNA depletion syndrome 12b	DOID_0080335	[A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.]
obsolete monocular esotropia with V pattern	DOID_10296
mitochondrial DNA depletion syndrome 14	DOID_0080336	[A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.]
monocular esotropia	DOID_10293
esotropia	DOID_9840	[A strabismus that is characterized the eye which turns inward toward the nose.]
mitochondrial DNA depletion syndrome 15	DOID_0080337	[A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21.]
obsolete intermittent monocular esotropia	DOID_10294
familial erythrocytosis 3	DOID_0080338	[A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42.]
cold-induced sweating syndrome 3	DOID_0080331	[A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15.]
abnormal hemistanding	SYMP_0000669
bicuspid aortic valve disease	DOID_0080332	[An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.]
abnormal behavior	SYMP_0000666
aortic valve disease 1	DOID_0080333	[A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.]
prostate lymphoma	DOID_10290
aortic valve disease 2	DOID_0080334	[A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.]
Crimean-Congo hemorrhagic fever orthonairovirus	NCBITaxon_1980519