All terms in DOID

Label Id Description
endocervical adenocarcinoma DOID_0050940 [An endocervical carcinoma that derives_from epithelial cells of glandular origin.]
polypeptide_truncation SO_0001617
inactive_catalytic_site SO_0001618
spastic ataxia 3 DOID_0050942 [A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.]
spastic ataxia 2 DOID_0050941 [A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.]
spastic ataxia 5 DOID_0050944 [A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.]
spastic ataxia 4 DOID_0050943 [A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.]
Charlevoix-Saguenay spastic ataxia DOID_0050946 [An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.]
spastic ataxia 7 DOID_0050945 [A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs.]
spinocerebellar ataxia 20 DOID_0050971 [An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.]
spinocerebellar ataxia 19/22 DOID_0050970 [An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.]
anterior cranial fossa UBERON_0003720
Diptera NCBITaxon_7147
middle cranial fossa UBERON_0003722
complex_3D_structural_variant SO_0001600
conformational_change_variant SO_0001601
complex_change_of_translational_product_variant SO_0001602
amino_acid_deletion SO_0001604
amino_acid_insertion SO_0001605
spinocerebellar ataxia 23 DOID_0050973 [An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene.]