Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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.]
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.]
hereditary spastic paraplegia 45	DOID_0110797	[A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24.]
hereditary spastic paraplegia 46	DOID_0110798	[A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p.]
hereditary spastic paraplegia 43	DOID_0110795	[A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.]
hereditary spastic paraplegia 44	DOID_0110796	[A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.]
hereditary spastic paraplegia 41	DOID_0110793	[A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2.]
hereditary spastic paraplegia 42	DOID_0110794	[A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.]
X-linked nonsyndromic deafness	DOID_0050566	[A nonsyndromic deafness characterized by an X-linked inheritance mode.]
spondylocostal dysostosis	DOID_0050568	[A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.]