All terms in DOID

Label Id Description
3-hydroxy steroid CHEBI_36834
spinocerebellar ataxia 4 DOID_0050957 [An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22.]
spinocerebellar ataxia 6 DOID_0050956 [An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene.]
algal bloom ENVO_2000004 [A feature that arises from a rapid increase or accumulation in the population of algae (typically microscopic) in an aquatic system.]
cavernous sinus UBERON_0003712
autosomal dominant hypophosphatemic rickets DOID_0050948 [A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.]
hereditary hypophosphatemic rickets with hypercalciuria DOID_0050947 [A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.]
elongated_polypeptide_C_terminal SO_0001610
elongated_polypeptide SO_0001609
elongated_polypeptide_N_terminal SO_0001611
autosomal recessive hypophosphatemic rickets DOID_0050949 [A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.]
elongated_in_frame_polypeptide_C_terminal SO_0001612
extrahepatic bile duct UBERON_0003703
bile duct UBERON_0002394
elongated_out_of_frame_polypeptide_C_terminal SO_0001613
elongated_in_frame_polypeptide_N_terminal_elongation SO_0001614
elongated_out_of_frame_polypeptide_N_terminal SO_0001615
intrahepatic bile duct UBERON_0003704
polypeptide_fusion SO_0001616
polypeptide_sequence_variant SO_0001603