All terms in DOID

Label Id Description
spinal muscular atrophy with lower extremity predominant 2B DOID_0070350 [A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.]
colic flexure UBERON_0022275
spinal muscular atrophy with lower extremity predominant 1 DOID_0070351 [A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.]
splenic flexure of colon UBERON_0022276
hepatic flexure of colon UBERON_0022277
syncope and collapse SYMP_0000608 [An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain and limb weakness progressing to collapse.]
generalized hyperhidrosis SYMP_0000609 [A neurological and physiological symptom that is characterized by excessive sweating, i.e. the production of more sweat than is required to regulate body temperature. Generalized hyperhidrosis is caused by non-thermoregulatory stimuli and affects the entire body.]
primary biliary cholangitis 1 DOID_0070358 [A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33.]
primary biliary cholangitis 2 DOID_0070359 [A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3.]
visual impairment and progressive phthisis bulbi DOID_0070356 [An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.]
nephrotic syndrome type 20 DOID_0070357 [A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males.]
familial nephrotic syndrome DOID_2590 [A nephrotic syndrome that has_material_basis_in genetic mutations.]
cataract 48 DOID_0070354 [A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.]
Basidiomycota NCBITaxon_5204
Dikarya NCBITaxon_451864
overactive bladder syndrome DOID_0070355 [A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.]
bladder disease DOID_365 [A urinary system disease that is located_in the bladder.]
hematopoietic system disease DOID_74 [A disease of anatomical entity that has_material_basis_in hematopoietic cells.]
immune system disease DOID_2914 [A disease of anatomical entity that is located_in the immune system.]
Cowden syndrome 4 DOID_0081000 [A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23.]