Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
cervical keratinizing squamous cell carcinoma	DOID_7483	[A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.]
pneumoconiosis due to talc	DOID_10329
posterior urethra cancer	DOID_7488	[A female urethral cancer located_in the posterior urethra.]
female urethral cancer	DOID_738
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
obsolete metastatic renal cell carcinoma	DOID_7486
siderosis	DOID_10328
early infantile epileptic encephalopathy 55	DOID_0080283	[An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.]
early infantile epileptic encephalopathy 57	DOID_0080284	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.]
early infantile epileptic encephalopathy 58	DOID_0080285	[An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.]
spinocerebellar ataxia 44	DOID_0080286
Abnormality of the thymus	HP_0000777	[Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.]
gingival fibromatosis 5	DOID_0080280
schizophrenia 19	DOID_0080281
early infantile epileptic encephalopathy 56	DOID_0080282	[An early infantile 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	[Expressive aphasia is a aphasia caused by damage to or developmental issues in 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