Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
duodenal ulcer	DOID_1724
cryptosporidiosis	DOID_1733	[A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.]
obsolete histoplasmosis pneumonia	DOID_1730	[A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.]
Simpson-Golabi-Behmel syndrome type 1	DOID_0060248	[A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26.]
Smith-McCort dysplasia	DOID_0060247	[A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.]
MASA syndrome	DOID_0060246	[A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.]
Mast syndrome	DOID_0060245	[A hereditary spastic paraplegia associated with dementia.]
post_translationally_regulated_by_protein_modification	SO_0000469	[An attribute describing a gene sequence where the resulting protein is modified to regulate it.]
golden_path_fragment	SO_0000468	[One of the pieces of sequence that make up a golden path.]
post_translationally_regulated_by_protein_stability	SO_0000467	[An attribute describing a gene sequence where the resulting protein is regulated by the stability of the resulting protein.]
V_gene_segment	SO_0000466	[Germline genomic DNA including L-part1, V-intron and V-exon, with the 5' UTR and 3' UTR.]
inversion_derived_deficiency_plus_duplication	SO_0000465	[A chromosome deletion whereby a chromosome is generated by recombination between two inversions; there is a deficiency at one end of the inversion and a duplication at the other end of the inversion.]
positively_autoregulated	SO_0000475	[The gene product is involved in its own transcriptional regulation, where it increases transcription.]
autoregulated	SO_0000471	[The gene product is involved in its own transcriptional regulation.]
regional_centromere_central_core	SO_0001796	[A conserved region within the central region of a modular centromere, where the kinetochore is formed.]
obsolete disease of biological process	DOID_344	[A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms.]
negatively_autoregulated	SO_0000473	[The gene product is involved in its own transcriptional regulation where it decreases transcription.]
regional_centromere_inner_repeat_region	SO_0001798	[The inner inverted repeat region of a modular centromere and part of the central core surrounding a non-conserved central region. This region is adjacent to the central core, on each chromosome arm.]
tiling_path	SO_0000472	[A set of regions which overlap with minimal polymorphism to form a linear sequence.]
regional_centromere_outer_repeat_region	SO_0001799	[The heterochromatic outer repeat region of a modular centromere. These repeats exist in tandem arrays on both chromosome arms.]