All terms in DOID

Label Id Description
hydrides CHEBI_33692
heteroatomic molecular entity CHEBI_37577
mitochondrial DNA depletion syndrome 20 DOID_0070451 [A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12.]
diencephalon UBERON_0001894
xanthinuria type I DOID_0070452 [A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23.]
xanthinuria DOID_0060236 [A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.]
mitochondrial DNA depletion syndrome 19 DOID_0070450 [A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3.]
keratosis palmoplantaris striata 2 DOID_0081109 [A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24.]
cerebrum UBERON_0001893
hereditary spastic paraplegia 90A DOID_0070459 [A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1.]
hereditary spastic paraplegia 88 DOID_0070457 [A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2.]
hereditary spastic paraplegia 89 DOID_0070458 [A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13.]
hereditary spastic paraplegia 79A DOID_0070455 [A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13.]
hereditary spastic paraplegia 87 DOID_0070456 [A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3.]
xanthinuria type II DOID_0070453 [A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12.]
hereditary spastic paraplegia 70 DOID_0070454 [A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3.]
susceptibility to autism 3 MIM_608049
Orthomarburgvirus NCBITaxon_3044783
Filoviridae NCBITaxon_11266
spastic paraplegia with deafness DOID_0081100 [A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life.]