All terms in DOID

Label Id Description
congenital stationary night blindness 1B DOID_0110865 [A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35.]
congenital stationary night blindness 1H DOID_0110866 [A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.]
congenital stationary night blindness autosomal dominant 2 DOID_0110863 [A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.]
congenital stationary night blindness 1F DOID_0110864 [A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.]
epicondylitis DOID_14087 [A bone inflammation disease that results_in inflammation located_in epicondyle.]
rate_of_transcription_variant SO_0001550
transcription_variant SO_0001549
congenital stationary night blindness autosomal dominant 1 DOID_0110862 [A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.]
root caries DOID_14089
increased_transcription_rate_variant SO_0001551
decreased_transcription_rate_variant SO_0001552
polycystic kidney disease 3 DOID_0110860 [A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.]
translational_product_level_variant SO_0001553
translational_product_function_variant SO_0001539
Abnormal forebrain morphology HP_0100547
obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes DOID_9025
transcript_processing_variant SO_0001543
transcript_function_variant SO_0001538
editing_variant SO_0001544
obsolete heartwater disease DOID_14090