All terms in DOID

Label Id Description
obsolete Toxoplasma hepatitis DOID_13335 [A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice.]
trachea squamous cell carcinoma DOID_12003 [A squamous cell carcinoma that is located_in the trachea.]
platelet-type bleeding disorder 11 DOID_0111057 [A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.]
trachea sarcoma DOID_12002 [A sarcoma and malignant tumor of trachea that is located_in the trachea.]
hypertrophy of tongue papillae DOID_13333
platelet-type bleeding disorder 12 DOID_0111058 [A blood platelet 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 neuroblastoma 2 MIM_613013
gray platelet syndrome DOID_0111044 [A blood platelet 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.]
muscular dystrophy-dystroglycanopathy type B15 DOID_0112376 [A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.]
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.]
susceptibility to neuroblastoma 3 MIM_613014
platelet-type bleeding disorder 9 DOID_0111045 [A blood platelet 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
susceptibility to neuroblastoma 4 MIM_613015
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
susceptibility to neuroblastoma 5 MIM_613016