All terms in DOID

Label Id Description
obsolete arthropathy due to hypersensitivity reaction DOID_1204
drug-induced mental disorder DOID_1203
T cell CL_0000084
epithelial cell of pancreas CL_0000083
endo-epithelial cell CL_0002076
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 DOID_0061183 [A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12.]
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 DOID_0061184 [A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12.]
autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia DOID_0061185 [A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.]
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency DOID_0061186 [A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase.]
multiple familial trichoepithelioma 1 DOID_0061187 [A facial dermatosis that has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.]
autosomal recessive sensory neuropathy with spastic paraplegia DOID_0061188 [A hereditary sensory neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene.]
neuronal ceroid lipofuscinosis 15 DOID_0061189 [A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36.]
sandfly fever Sicilian virus NCBITaxon_28292
cerebellar vermis medulloblastoma DOID_3860
cerebellar medulloblastoma DOID_0060104 [A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.]
medullomyoblastoma DOID_3861
splenic abscess DOID_2530
obsolete FAP associated medulloblastoma DOID_3862
obsolete region 17p13 allelic loss associated medulloblastoma DOID_3863
nutritional optic neuropathy DOID_1209 [An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse.]