All terms in DOID

Label Id Description
pemphigus DOID_9182 [An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.]
Pierson syndrome DOID_0060852 [A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.]
Potocki-Lupski syndrome DOID_0060853 [A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.]
autosomal recessive pseudohypoaldosteronism type 1 DOID_0060854 [A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.]
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 heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 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