All terms in DOID

Label Id Description
vasculature of organ UBERON_0006876
mitochondrial DNA depletion syndrome 17 DOID_0070448 [A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome.]
mitochondrial DNA depletion syndrome 18 DOID_0070449 [A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3.]
mitochondrial DNA depletion syndrome 16 DOID_0070446 [A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3.]
mitochondrial DNA depletion syndrome 16B DOID_0070447 [A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.]
neurodevelopmental disorder with language delay and seizures DOID_0070444 [An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22.]
early-onset dystonia and/or spastic paraplegia DOID_0070445 [A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1.]
lamiids NCBITaxon_91888
paroxysmal nonkinesigenic dyskinesia 3 DOID_0070442 [A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.]
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction DOID_0070443 [An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2.]
susceptibility to cutaneous malignant melanoma 4 MIM_608035
hot water epilepsy 1 DOID_0081106 [A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3.]
hot water epilepsy DOID_0081104 [A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head.]
hot water epilepsy 2 DOID_0081107 [A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28.]
keratosis palmoplantaris striata 1 DOID_0081108 [A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12.]
nonautoimmune hyperthyroidism DOID_0081101 [A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31.]
hyperthyroidism DOID_7998 [A thyroid gland disease that involves an over production of thyroid hormone.]
familial gestational hyperthyroidism DOID_0081102 [A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31.]
Monodnaviria NCBITaxon_2731342
reflex epilepsy DOID_2548 [A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.]