All terms in DOID

Label Id Description
pseudohypoaldosteronism DOID_4479
autosomal dominant pseudohypoaldosteronism type 1 DOID_0060855 [A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.]
right atrial isomerism DOID_0060856 [A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.]
visceral heterotaxy DOID_0050545 [A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.]
septooptic dysplasia DOID_0060857 [A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14.]
Plasmodium vivax NCBITaxon_5855
Plasmodium (Plasmodium) NCBITaxon_418103
chromophobe renal cell carcinoma DOID_4471 [A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.]
renal cell carcinoma DOID_4450 [A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.]
scleredema adultorum DOID_3140 [A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.]
mucinoses DOID_3141 [A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue.]
connective tissue disease DOID_65 [A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.]
sarcomatoid renal cell carcinoma DOID_4473
mucinous tubular and spindle renal cell carcinoma DOID_4472
leg dermatosis DOID_3142
obsolete eczematous skin disease DOID_3143
hyperlipoproteinemia type III DOID_3145 [A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.]
familial hyperlipidemia DOID_1168
lipid metabolism disorder DOID_3146 [An inherited metabolic disorder that involves the creation and degradation of lipids.]
renal tubular transport disease DOID_447