All terms in DOID

Label Id Description
NK cell deficiency DOID_0080709 [A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood.]
medulloblastoma WNT activated DOID_0080702 [A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.]
medulloblastoma SHH activated DOID_0080703 [A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.]
medulloblastoma SHH activated and TP53 mutant DOID_0080704 [A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.]
medulloblastoma SHH activated and TP53 wild-type DOID_0080705 [A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.]
multisystem inflammatory syndrome in children DOID_0080711 [A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19.]
gene duplication disease DOID_0080712 [A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.]
zone of stomach UBERON_0009870
infantile liver failure syndrome 1 DOID_0080717 [An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.]
infantile liver failure syndrome DOID_0080716 [A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.]
GNE myopathy DOID_0080718 [A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.]
congenital myopathy 6 DOID_0080719 [A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.]
obsolete MECP2 duplication syndrome DOID_0080713 [A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking.]
hereditary alpha tryptasemia syndrome DOID_0080714 [A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems.]
developmental and epileptic encephalopathy 82 DOID_0080715 [A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.]
Burkholderia cepacia complex NCBITaxon_87882
obsolete passive-aggressive personality disorder DOID_10708
giardiasis DOID_10718 [A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia duodenalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.]
toxic diffuse goiter DOID_10719
obsolete meningococcal septicemia DOID_10717