All terms in DOID

Label Id Description
epithelial cell of thyroid gland CL_0002257
endocrine cell CL_0000163
calcitonin secreting cell CL_0000443
serotonin secreting cell CL_0000458
congenital nonspherocytic hemolytic anemia 6 DOID_0112252 [A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.]
congenital nonspherocytic hemolytic anemia DOID_2861
primary pulmonary hypertension DOID_14557 [A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.]
chronic pulmonary heart disease DOID_12326
Ghosal hematodiaphyseal syndrome DOID_0112251 [A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.]
obsolete nontoxic multinodular goiter DOID_14558
Gaucher's disease type IIIC DOID_0112250 [A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.]
Gaucher's disease type III DOID_0110959 [A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.]
anaerobic meningitis DOID_14559
retinal dystrophies primarily involving Bruch's membrane DOID_13227
fundus dystrophy DOID_8501
oculoglandular tularemia DOID_13226 [A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear.]
root resorption DOID_14550
N-acetylglutamate synthase deficiency DOID_0112258 [A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.]
urea cycle disorder DOID_9267 [An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.]
hydroxykynureninuria DOID_0112257 [An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2.]