Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
increased_transcript_stability_variant	SO_0001548	[A sequence variant that increases transcript stability with respect to a reference sequence.]
congenital stationary night blindness 1C	DOID_0110867	[A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.]
obsolete urination disorder	DOID_578
congenital stationary night blindness 1D	DOID_0110868	[A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22.]
obsolete medical disorder	DOID_0060035	[A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.]
ammonium ion	CHEBI_35274	[Ammonium, NH4(+), and derivatives formed by substitution by univalent groups.]
median neuropathy	DOID_571
autoimmune disease of exocrine system	DOID_0060029	[An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.]
Good syndrome	DOID_0060028	[An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.]
agammaglobulinemia 4	DOID_0060027	[An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.]
immunoglobulin beta deficiency	DOID_0060026	[A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance.]
immunoglobulin alpha deficiency	DOID_0060025	[A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.]
rRNA_primary_transcript	SO_0000209	[A primary transcript encoding a ribosomal RNA.]
rhizomelic chondrodysplasia punctata type 5	DOID_0110854	[A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.]
boutonneuse fever	DOID_14095	[A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.]
posterior polymorphous corneal dystrophy 1	DOID_0110855	[A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.]
infertility due to extratesticular cause	DOID_14096
simple_sequence_length_variation	SO_0000207	[SSLP are a kind of sequence alteration where the number of repeated sequences in intergenic regions may differ.]
rhizomelic chondrodysplasia punctata type 2	DOID_0110852	[A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.]
SINE_element	SO_0000206	[A repetitive element, a few hundred base pairs long, that is dispersed throughout the genome. A common human SINE is the Alu element.]