All terms in DOID

Label Id Description
X-linked VACTERL association DOID_0111766 [A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.]
dilated cardiomyopathy 1GG DOID_0110435 [A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.]
dilated cardiomyopathy 1NN DOID_0110432 [A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25.]
46,XX sex reversal 2 DOID_0111763 [A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.]
dilated cardiomyopathy 1E DOID_0110433 [A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2.]
46,XX sex reversal 4 DOID_0111764 [A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.]
dilated cardiomyopathy 1G DOID_0110430 [A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31.]
46,XX sex reversal 1 DOID_0111761 [A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome.]
acid rain ExO_0000013 [An ecological perturbation that is acidic water, usually pH 2.5 to 4.5, which poisons the ecosystem and adversely affects plants, fishes, and mammals. It is caused by industrial pollutants, mainly sulfur oxides and nitrogen oxides, emitted into the atmosphere and returning to earth in the form of acidic rain water.]
46,XX sex reversal 3 DOID_0111762 [A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26.]
dilated cardiomyopathy 1I DOID_0110431 [A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35.]
dilated cardiomyopathy 1JJ DOID_0110438 [A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21.]
46,XY sex reversal 6 DOID_0111769 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2.]
dilated cardiomyopathy 1P DOID_0110439 [A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22.]
obsolete Cytomegalovirus hepatitis DOID_0050203 [A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood.]
Lujo hemorrhagic fever DOID_0050202 [A viral infectious disease that results_in infection, has_material_basis_in Lujo virus (Mammarenavirus lujoense), which has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom thrombocytopenia, and has_symptom bleeding. Bleeding is minor and not a prominent symptom.]
obsolete Herpes simplex virus hepatitis DOID_0050205 [A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions.]
Epstein-Barr virus hepatitis DOID_0050204 [A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.]
obsolete Rubella virus hepatitis DOID_0050207 [A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis.]
obsolete adenovirus hepatitis DOID_0050206 [An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage.]