All terms in DOID

Label Id Description
autosomal dominant isolated macrothrombocytopenia 2 DOID_0060995 [A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11.]
thrombocytopenia DOID_1588 [A blood platelet disease that is characterized by low a platelet count in the blood.]
poor metabolism of thiopurines 2 DOID_0060996 [A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14.]
poor metabolism of thiopurines DOID_0080172 [An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.]
rhabdoid tumor predisposition syndrome 2 DOID_0060997 [A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.]
rhabdoid tumor predisposition syndrome DOID_0070617 [A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children.]
striatal degeneration 2 DOID_0060998 [A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27.]
multiple system atrophy DOID_4752
mitochondrial trifunctional protein deficiency 2 DOID_0060999 [A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.]
mitochondrial trifunctional protein deficiency DOID_0111277 [A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.]
tetany SYMP_0000619
melanoma in congenital melanocytic nevus DOID_0070327 [A skin melanoma that arises from a congenital melanocytic nevus.]
skin melanoma DOID_8923 [A skin cancer that has_material_basis_in melanocytes.]
adult hepatocellular carcinoma DOID_0070328 [A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.]
hepatocellular carcinoma DOID_684 [A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.]
malignant childhood adrenal gland pheochromocytoma DOID_0070325 [An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults.]
adrenal gland pheochromocytoma DOID_0050892 [A malignant pheochromocytoma that is characterized by overproduction of adrenaline.]
spitzoid melanoma DOID_0070326 [A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.]
childhood acute myeloid leukemia DOID_0070323 [A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.]
childhood leukemia DOID_7757 [A leukemia that occurs in children.]