All terms in DOID

Label Id Description
obsolete primary Bacillaceae infectious disease DOID_1938
arterial tortuosity syndrome DOID_0050645 [A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.]
arterial calcification of infancy DOID_0050644 [A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.]
Arts syndrome DOID_0050647 [An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.]
atransferrinemia DOID_0050649 [A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22.]
Rubinstein-Taybi syndrome DOID_1933 [A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.]
atelosteogenesis DOID_0050648 [An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.]
Angelman syndrome DOID_1932 [A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.]
Neisseria NCBITaxon_482
Neisseriaceae NCBITaxon_481
hereditary spastic paraplegia 76 DOID_0110821 [A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.]
hereditary spastic paraplegia 77 DOID_0110822 [A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25.]
internuclear ophthalmoplegia DOID_538
hereditary spastic paraplegia 75 DOID_0110820 [A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.]
Decreased head circumference HP_0040195
retinitis pigmentosa-deafness syndrome DOID_0110829 [An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.]
Usher syndrome type 2 DOID_0110827 [An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.]
Usher syndrome type 3 DOID_0110828 [An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.]
hereditary spastic paraplegia 9B DOID_0110825 [A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.]
obsolete persistent disorder of initiating or maintaining sleep DOID_536