All terms in DOID

Label Id Description
lymph node disease DOID_9942
thrombocytosis DOID_2228 [A blood platelet disease that is characterized by the presence of high platelet counts in the blood.]
pseudomyxoma peritonei DOID_3559 [An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.]
intracranial arterial disease DOID_13089
pineal gland astrocytoma DOID_4858
anterior cerebral artery infarction DOID_3528
congenital myopathy 1A DOID_3529 [A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.]
sequence_length_variant SO_0002160
structural_variant SO_0001537
short_tandem_repeat_change SO_0002161
short_tandem_repeat_expansion SO_0002162
short_tandem_repeat_contraction SO_0002163
trinucleotide_repeat_expansion SO_0002165
splice_polypyrimidine_tract_variant SO_0002169
splicing_variant SO_0001568
pilocytic astrocytoma DOID_4851 [A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.]
childhood low-grade glioma DOID_0080830 [A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.]
obsolete glioma of visual pathway DOID_4850
childhood fibrosarcoma DOID_3520
obsolete childhood soft tissue sarcoma DOID_3521 [A sarcoma that affects children and is located_in the soft tissues of the body.]