All terms in DOID

Label Id Description
Zika fever DOID_0060478 [A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.]
Shwachman-Diamond syndrome DOID_0060479 [A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.]
salt and pepper syndrome DOID_0060470 [A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2.]
fetal valproate syndrome DOID_0060471 [A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.]
Kindler syndrome DOID_0060472 [A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.]
Kabuki syndrome DOID_0060473 [A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.]
familial erythrocytosis 2 DOID_0060474 [A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.]
primary polycythemia DOID_10780 [A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.]
myoclonic-atonic epilepsy DOID_0060475 [An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.]
idiopathic generalized epilepsy DOID_1827 [An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.]
Matonaviridae NCBITaxon_2560066
Hepelivirales NCBITaxon_2732543
Avulavirinae NCBITaxon_2560069
Paramyxoviridae NCBITaxon_11158
fibrochondrogenesis DOID_0060465 [An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen.]
Batillus NCBITaxon_133423
Turbo NCBITaxon_63672
gingival fibromatosis DOID_0060466 [A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa.]
gingival overgrowth DOID_3086
humeroradial synostosis DOID_0060467 [A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.]