All terms in DOID

Label Id Description
pontocerebellar hypoplasia type 3 DOID_0060272 [A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.]
pontocerebellar hypoplasia type 2E DOID_0060271 [A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13.]
pontocerebellar hypoplasia type 2D DOID_0060270 [A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.]
benign peritoneal mesothelioma DOID_1789
pancreatic endocrine carcinoma DOID_1798 [An islet cell tumor that has_material_basis_in epithelial cells.]
pancreas sarcoma DOID_1796 [A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin.]
pontocerebellar hypoplasia type 2C DOID_0060269 [A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.]
pontocerebellar hypoplasia type 2B DOID_0060268 [A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.]
pontocerebellar hypoplasia type 2A DOID_0060267 [A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.]
pancreas lymphoma DOID_1792
TF_binding_site_variant SO_0001782
obsolete Human T-lymphotropic virus 1 infectious disease DOID_323 [A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.]
maternal_variant SO_0001775
variant_origin SO_0001762
susceptibility to strabismus MIM_185100
paternal_variant SO_0001776
HTLV-1-associated myelopathy/tropical spastic paraparesis DOID_321 [A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.]
somatic_variant SO_0001777
vascular myelopathy DOID_320
germline_variant SO_0001778