All terms in DOID

Label Id Description
susceptibility to dengue virus MIM_614371
hereditary spastic paraplegia 81 DOID_0112349 [A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.]
cone-rod dystrophy 10 DOID_0111017 [A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.]
chemical substance CHEBI_59999
cone-rod dystrophy 11 DOID_0111018 [A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13.]
hereditary spastic paraplegia 78 DOID_0112348 [A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.]
hereditary spastic paraplegia 84 DOID_0112347 [A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.]
Newfoundland cone-rod dystrophy DOID_0111015 [A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.]
cone-rod dystrophy 13 DOID_0111016 [A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2.]
hereditary spastic paraplegia 83 DOID_0112346 [A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.]
rectum carcinoma in situ DOID_9174 [An in situ carcinoma that is located_in the rectum.]
hereditary spastic paraplegia 85 DOID_0112345 [A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21.]
cone-rod dystrophy 3 DOID_0111013 [A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.]
submandibular gland cancer DOID_9173
cone-rod dystrophy 8 DOID_0111014 [A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24.]
hereditary spastic paraplegia 79B DOID_0112344 [A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.]
neurotic excoriation DOID_9165
Wiskott-Aldrich syndrome DOID_9169 [A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).]
ovarian surface epithelial cell CL_2000064
meso-epithelial cell CL_0002078