All terms in DOID

Label Id Description
hereditary spastic paraplegia 12 DOID_0110765 [A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.]
obsolete hereditary spastic paraplegia 1 DOID_0110762
hereditary spastic paraplegia 10 DOID_0110763 [A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13.]
type 1 diabetes mellitus 23 DOID_0110760 [A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27.]
type 1 diabetes mellitus 24 DOID_0110761 [A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31.]
spleen cancer DOID_672 [A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.]
basal ganglia disease DOID_679 [A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits.]
progressive supranuclear palsy DOID_678 [A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.]
hereditary spastic paraplegia 15 DOID_0110768 [A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1.]
hereditary spastic paraplegia 16 DOID_0110769 [A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2.]
juvenile rheumatoid arthritis DOID_676 [A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.]
vesiculobullous skin disease DOID_2731 [A bullous skin disease that is characterized by fluid filled blisters.]
amphetamine abuse DOID_670 [A substance abuse that involves the recurring use of amphetamines despite negative consequences.]
iritis DOID_1406
Rothmund-Thomson syndrome DOID_2732 [A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.]
skin atrophy DOID_2733
residual stage angle-closure glaucoma DOID_1404
keratosis follicularis DOID_2734
glycogen storage disease V DOID_2746 [A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.]
glycogen metabolism disorder DOID_0050728 [A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.]