Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hypertrophy of tongue papillae	DOID_13333
trachea sarcoma	DOID_12002	[A sarcoma and malignant tumor of trachea that is located_in the trachea.]
platelet-type bleeding disorder 12	DOID_0111058	[An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.]
susceptibility to coronary heart disease 7	OMIM_610938
gray platelet syndrome	DOID_0111044	[An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.]
obsolete ocular toxoplasmosis	DOID_13343	[A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness.]
platelet-type bleeding disorder 9	DOID_0111045	[An inherited blood coagulation disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.]
obsolete Toxoplasma pneumonia	DOID_13342	[A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales.]
obsolete congenital contricting bands	DOID_14676
glycogen storage disease IXa	DOID_0111042	[A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.]
glycogen storage disease IX	DOID_0050594	[A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.]
anterior ischemic optic neuropathy	DOID_12010
parasitic conjunctivitis	DOID_13341
glycogen storage disease IXc	DOID_0111043	[A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.]
glycogen storage disease IXd	DOID_0111040	[A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.]
VACTERL association	DOID_14679	[A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.]
glycogen storage disease IXb	DOID_0111041	[A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.]
obsolete group A streptococcal pneumonia	DOID_12019	[A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst.]
laryngeal cartilage cancer	DOID_13348
obsolete group B streptococcal pneumonia	DOID_12017	[A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly.]