All terms in DOID

Label Id Description
pheochromocytoma/paraganglioma syndrome 6 DOID_0061221 [A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13.]
pheochromocytoma/paraganglioma syndrome 7 DOID_0061222 [A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24.]
epidermolytic hyperkeratosis 2A DOID_0061223 [An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21.]
Senior-Loken syndrome DOID_0050576 [A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.]
glycogen storage disease XV DOID_0050579 [A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.]
occult macular dystrophy DOID_0050578 [A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.]
hereditary spastic paraplegia 3A DOID_0110791 [A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22.]
pigmented villonodular synovitis DOID_2702
hereditary spastic paraplegia 4 DOID_0110792 [A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22.]
Talaromyces NCBITaxon_5094
Walker-Warburg syndrome DOID_0050560 [A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.]
malignant giant cell tumor of the tendon sheath DOID_2704
hereditary spastic paraplegia 39 DOID_0110790 [A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.]
West syndrome DOID_0050562 [An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.]
Lennox-Gastaut syndrome DOID_0050561 [A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.]
mushroom workers' lung DOID_2708 [An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.]
hereditary spastic paraplegia 47 DOID_0110799 [A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.]
telomere biology disorder DOID_0061213 [A genetic disease that is characterized by telomeres that are longer or shorter than usual.]
biliary obstruction DOID_0061214 [A bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system.]
hereditary spastic paraplegia 45 DOID_0110797 [A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.]