All terms in DOID

Label Id Description
female urethral cancer DOID_738 [An urethral cancer that derives_from the female urethra.]
Osgood-Schlatter's disease DOID_7489 [A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.]
anthracosis DOID_10327 [A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.]
obsolete metastatic renal cell carcinoma DOID_7486
siderosis DOID_10328 [A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes.]
developmental and epileptic encephalopathy 55 DOID_0080283 [A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.]
developmental and epileptic encephalopathy 57 DOID_0080284 [A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.]
developmental and epileptic encephalopathy 58 DOID_0080285 [A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.]
spinocerebellar ataxia 44 DOID_0080286 [An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24.]
Abnormal thymus morphology HP_0000777
gingival fibromatosis 5 DOID_0080280 [A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12.]
schizophrenia 19 DOID_0080281 [A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11.]
developmental and epileptic encephalopathy 56 DOID_0080282 [A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.]
expressive aphasia SYMP_0000705 [An aphasia that is characterized by damage to, or a developmental issues in, the anterior regions of the brain, including (but not limited to) the left inferior frontal region known as Broca's area. Sufferers of this form of aphasia exhibit the common problem of agrammatism. For them, speech is difficult to initiate, non-fluent, labored, and halting.]
facial weakness SYMP_0000706
droopy ears SYMP_0000703
dysphonia SYMP_0000704
nasal discharge SYMP_0000701
complete generalized lipodystrophy DOID_0080298 [A lipodystrophy that is characterized by complete loss of adipose tissue.]
lipodystrophy DOID_811 [A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.]