All terms in DOID

Label Id Description
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 [An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance.]
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 homozygous mutation in the TFAM 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 [A behavioral symptom that is characterized by behavior that is atypical or statistically uncommon within a particular culture, or that is maladaptive, or detrimental to an individual, or those around that individual.]
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 [A prostate cancer that affects lymphocytes and arises from the prostate gland.]
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.]
familial erythrocytosis 4 DOID_0080339 [A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.]
Orthonairovirus NCBITaxon_1980517
Bacillus anthracis NCBITaxon_1392
Bacillaceae NCBITaxon_186817
Bacillales NCBITaxon_1385
Bacilli NCBITaxon_91061
ovarian endometrioid cystadenofibroma DOID_7411 [An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces.]