All terms in DOID

Label Id Description
Phlebovirus NCBITaxon_11584
Phenuiviridae NCBITaxon_1980418
prostate disease DOID_47
Variola virus NCBITaxon_10255
Orthopoxvirus variola NCBITaxon_3431487
Orf virus NCBITaxon_10258
Parapoxvirus orf NCBITaxon_3431389
developmental and epileptic encephalopathy 103 DOID_0070389 [A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21.]
Parapoxvirus NCBITaxon_10257
Rift Valley fever virus NCBITaxon_11588
Phlebovirus riftense NCBITaxon_3052676
developmental and epileptic encephalopathy 101 DOID_0070387 [A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.]
developmental and epileptic encephalopathy 102 DOID_0070388 [A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21.]
generalized lymphatic anomaly DOID_0081031 [A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations.]
glutatione synthetase deficiency with 5-oxoprolinuria DOID_0081034 [A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline.]
glutathione synthetase deficiency DOID_0080699 [An amino acid metabolic disorder characterized by the lack of glutathione production.]
central conducting lymphatic anomaly DOID_0081030 [A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22.]
asterids NCBITaxon_71274
Pentapetalae NCBITaxon_1437201
rosids NCBITaxon_71275