Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
stiff neck	SYMP_0000383
Glanzmann's thrombasthenia	DOID_2219	[An inherited blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.]
platelet	CL_0000233
IG_C_pseudogene	SO_0002100	[A pseudogenic constant region of an immunoglobulin gene which closely resembles a known functional Imunoglobulin constant gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon.]
IG_J_pseudogene	SO_0002101	[A pseudogenic joining region which closely resembles a known functional imunoglobulin joining gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon that rearranges at the DNA level and codes the joining region of the variable domain of an immunoglobulin chain.]
IG_V_pseudogene	SO_0002102	[A pseudogenic variable region which closely resembles a known functional imunoglobulin variable gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon that rearranges at the DNA level and codes the variable region of an immunoglobulin chain.]
TR_V_pseudogene	SO_0002103	[A pseudogenic variable region which closely resembles a known functional T receptor variable gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon that rearranges at the DNA level and codes the variable region of an immunoglobulin chain.]
tinnitus	SYMP_0000393
thyroid symptom	SYMP_0000390
thyroid abscesses	SYMP_0000391
cutaneous adenocystic carcinoma	DOID_4871
lacrimal gland adenoid cystic carcinoma	DOID_4870
lacrimal gland adenocarcinoma	DOID_298	[A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin.]
anterior horn cell disease	DOID_4873
spinal muscular atrophy	DOID_12377	[A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.]
lung adenoid cystic carcinoma	DOID_4872
lung carcinoma	DOID_3905	[A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.]
adult choroid plexus cancer	DOID_3542
factor XIII deficiency	DOID_2211	[An inherited blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.]
vaginal discharge	SYMP_0000398