All terms in DOID

Label Id Description
Edwards syndrome DOID_1085 [A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.]
autosomal recessive Robinow syndrome 2 DOID_0060974 [A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13.]
polycystic liver disease 2 DOID_0060975 [A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21.]
polycystic liver disease 3 DOID_0060976 [A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14.]
dirofilariasis DOID_1082 [A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.]
filariasis DOID_1080 [A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.]
polycystic liver disease 4 DOID_0060977 [A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.]
mansonelliasis DOID_1081 [A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.]
Fanconi anemia complementation group W DOID_0060978 [A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23.]
Aspergillus subgen. Fumigati NCBITaxon_2720872
Aspergillus NCBITaxon_5052
Cornelia de Lange syndrome 6 DOID_0060970 [A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.]
Cornelia de Lange syndrome DOID_11725 [A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.]
Amoebozoa NCBITaxon_554915
anasarca SYMP_0000433 [Anasarca is a edema characterized as generalized edema with accumulation of serum in the connective tissue.]
urticaria SYMP_0000434 [A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border.]
sputum SYMP_0000431 [A respiratory system and chest symptom that is characterized by matter discharged from the air passages in diseases of the lungs, bronchi, or upper respiratory tract that contains mucus and often pus, blood, fibrin, or bacterial products.]
itching SYMP_0000432 [A skin and integumentary tissue symptom that is characterized by an uneasy irritating sensation in the upper surface of the skin usually held to result from mild stimulation of pain receptors.]
pleuritic chest pain SYMP_0000430 [A chest pain that is characterized by an inflammation of the pleural cavity with a sharp pain resulting from the exansion of the lungs as the inflammed pleural layers rub against each other.]
Hypospadias HP_0000047