All terms in DOID

Label Id Description
hereditary spastic paraplegia 8 DOID_0110823 [A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24.]
obsolete persistent disorder of initiating or maintaining wakefulness DOID_534
obsolete cutaneous fibrohistiocytic neoplasm DOID_1908
hereditary spastic paraplegia 9A DOID_0110824 [A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.]
malignant skin fibrous histiocytoma DOID_1906
Neisseria gonorrhoeae NCBITaxon_485
respiratory system muscle UBERON_0003831
hereditary spastic paraplegia 5A DOID_0110810 [A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.]
blepharospasm DOID_529 [A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.]
thoracic segment muscle UBERON_0003830
hereditary spastic paraplegia 6 DOID_0110811 [A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2.]
hydrarthrosis DOID_528
hereditary spastic paraplegia 73 DOID_0110818 [A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13.]
hereditary spastic paraplegia 74 DOID_0110819 [A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42.]
hereditary spastic paraplegia 7 DOID_0110816 [A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24.]
hereditary spastic paraplegia 72A DOID_0110817 [A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2.]
hereditary spastic paraplegia 63 DOID_0110814 [A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13.]
hereditary spastic paraplegia 64 DOID_0110815 [A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.]
obsolete central nervous system AIDS arteritis DOID_524 [A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2.]
hereditary spastic paraplegia 61 DOID_0110812 [A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12.]