All terms in DOID

Label Id Description
inflammatory bowel disease 6 DOID_0110907 [An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13.]
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.]
spinocerebellar ataxia with axonal neuropathy 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, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.]
early-onset ataxia with oculomotor apraxia and hypoalbuminemia 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.]
nose UBERON_0000004
uterine cervix UBERON_0000002
nicotine dependence DOID_0050742 [A substance dependence that is characterized by a physical dependence on nicotine.]
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.]