All terms in DOID

Label Id Description
transcript_stability_variant SO_0001546
congenital stationary night blindness 1E DOID_0110869 [A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.]
decreased_transcript_stability_variant SO_0001547
renal artery atheroma DOID_14092 [An atherosclerosis of the renal artery.]
increased_transcript_stability_variant SO_0001548
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 a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous 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.]
dropped head syndrome DOID_0060034 [A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.]
ammonium ion derivative CHEBI_35274
median neuropathy DOID_571
Good syndrome DOID_0060028 [A combined T cell and B cell immunodeficiency 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.]
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