All terms in DOID

Label Id Description
autosomal recessive spinocerebellar ataxia 19 DOID_0080065 [An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36.]
autosomal recessive spinocerebellar ataxia 20 DOID_0080066 [An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.]
Vissers-Bodmer syndrome DOID_0081397 [A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.]
progressive non-fluent aphasia DOID_0081390 [A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech.]
primary progressive aphasia DOID_0081388 [A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language.]
autosomal recessive spinocerebellar ataxia 12 DOID_0080060 [An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.]
semantic dementia DOID_0081391 [A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.]
corticobasal degeneration syndrome DOID_0081392 [A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities.]
autosomal recessive spinocerebellar ataxia 2 DOID_0080061 [An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.]
organophosphate-induced delayed polyneuropathy DOID_0081393 [An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.]
inflammatory and toxic neuropathy DOID_2537 [A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment.]
autosomal recessive spinocerebellar ataxia 13 DOID_0080062 [An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24.]
microcirculatory vessel UBERON_0010523
hypophosphatemic nephrolithiasis/osteoporosis 2 DOID_0080078 [A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.]
hypophosphatemic nephrolithiasis/osteoporosis DOID_0080655 [A kidney disease that is characterized by formation of renal calcium stones or bone demineralization.]
internal acoustic meatus UBERON_0011859
nonsyndromic congenital nail disorder 1 DOID_0080079 [A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.]
hernia of ovary and fallopian tube DOID_12735 [A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall.]
obsolete diphtheritic laryngotracheitis DOID_11404 [A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough.]
serous cavity UBERON_0035809