All terms in DOID

Label Id Description
contractures, pterygia, and spondylocarpotarsal fusion syndrome DOID_0080110 [A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.]
Nicolaides-Baraitser syndrome DOID_0081441 [A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.]
renal hypoplasia DOID_0080204 [A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.]
CAKUT DOID_0080205 [A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.]
CAKUT1 DOID_0080206 [A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32.]
acquired night blindness DOID_11491 [A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated.]
bilateral renal aplasia DOID_0080200 [A renal agenesis that is characterized by the absence of both kidneys at birth.]
renal agenesis DOID_14766 [A renal disease that is characterized by the failure of one or both kidneys to develop.]
obsolete vitamin A deficiency with night blindness DOID_11490
Peters plus syndrome DOID_0080201 [A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.]
adenoid cystic carcinoma DOID_0080202 [An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.]
tonsil cancer DOID_8858
Staphylococcus aureus NCBITaxon_1280
Staphylococcus NCBITaxon_1279
CAKUT2 DOID_0080207 [A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.]
metabolic dysfunction-associated steatotic liver disease DOID_0080208 [A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.]
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay DOID_0080209 [A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.]
sideroblastic anemia DOID_8955 [A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).]
pulmonary hypertension DOID_6432 [A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.]
carcinoma of supraglottis DOID_7763