Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
inflammatory bowel disease 8	DOID_0110904	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p.]
inflammatory bowel disease 22	DOID_0110905	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2.]
inflammatory bowel disease 27	DOID_0110902	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3.]
inflammatory bowel disease 4	DOID_0110903	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12.]
inflammatory bowel disease 2	DOID_0110900	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1.]
inflammatory bowel disease 26	DOID_0110901	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15.]
amyotrophic lateral sclerosis type 8	DOID_0050752	[An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.]
ataxia with oculomotor apraxia type 2	DOID_0050755	[An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.]
ataxia with oculomotor apraxia type 1	DOID_0050754	[An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.]
deafness-dystonia-optic neuronopathy syndrome	DOID_0050757	[A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.]
obsolete CLN3 disease	DOID_0050756
inflammatory bowel disease 24	DOID_0110908	[An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13.]
myotonic dystrophy type 2	DOID_0050759	[A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.]
inflammatory bowel disease 25	DOID_0110909	[An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22.]
Qazi Markouizos syndrome	DOID_0050740	[A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.]
Dysharmonic delayed bone age	HP_0005832	[A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.]
nose	UBERON_0000004
mature T-cell and NK-cell lymphoma	DOID_0050743	[A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.]
alcohol dependence	DOID_0050741	[A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.]
anaplastic large cell lymphoma	DOID_0050744	[A non-Hodgkin lymphoma involving aberrant T-cells.]