All terms in DOID

Label Id Description
primary autosomal recessive microcephaly 25 DOID_0051036 [A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22.]
autosomal dominant primary microcephaly 26 DOID_0051037 [A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.]
primary autosomal recessive microcephaly 23 DOID_0051034 [A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11.]
sigmoid colon cancer DOID_12192
primary autosomal recessive microcephaly 24 DOID_0051035 [A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23.]
vascular system UBERON_0007798
autosomal dominant primary microcephaly 27 DOID_0051038 [A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.]
primary autosomal recessive microcephaly 28 DOID_0051039 [A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13.]
chronic pancreatitis DOID_0051065 [A pancreatitis that is characterized by long-term inflamation of the pancreas.]
arterionephrosclerosis DOID_0051066 [A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.]
chronic kidney disease DOID_784 [A kidney failure that is characterized by the gradual loss of kidney function.]
hemorrhagic stroke DOID_0051063 [A stroke that is characterized by sudden bleeding in the brain.]
stroke DOID_0051061 [A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.]
left ventricular failure DOID_0051064 [A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.]
congestive heart failure DOID_6000 [A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.]
ischemic stroke DOID_0051062 [A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain.]
frontotemporal dementia 1 DOID_0051060 [A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21.]
susceptibility to familial breast-ovarian cancer 4 MIM_614291
coarctation of the aorta DOID_0051054 [A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.]
46,XY gonadal dysgenesis with minifascicular neuropathy DOID_0051055 [A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH).]