Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete chronic factitious illness with physical symptoms	DOID_333
splice_donor_5th_base_variant	SO_0001787	[A sequence variant that causes a change at the 5th base pair after the start of the intron in the orientation of the transcript.]
inversion_derived_bipartite_deficiency	SO_0000461	[A chromosomal deletion whereby a chromosome generated by recombination between two inversions; has a deficiency at each end of the inversion.]
U_box	SO_0001788	[An U-box is a conserved T-rich region upstream of a retroviral polypurine tract that is involved in PPT primer creation during reverse transcription.]
mating_type_region	SO_0001789	[A specialized region in the genomes of some yeast and fungi, the genes of which regulate mating type.]
spinal accessory nerve neoplasm	DOID_337
obsolete non-traumatic tendon rupture	DOID_336
pontocerebellar hypoplasia type 8	DOID_0060277	[A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.]
pontocerebellar hypoplasia type 7	DOID_0060276	[A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.]
pontocerebellar hypoplasia type 6	DOID_0060275	[A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.]
pontocerebellar hypoplasia type 5	DOID_0060274	[A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.]
pontocerebellar hypoplasia type 4	DOID_0060273	[A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.]
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 progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene.]
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.]