All terms in DOID

Label Id Description
facial tremor SYMP_0000863 [Facial tremor is a head symptom characterized by a trembling or shaking of the muscles of the face usually from physical weakness, emotional stress, or disease, may be emphasized by the firm closure of the eyes, elevation of the eyebrows, or drawing down and outward of the corners of the mouth.]
epithelioid inflammatory myofibroblastic sarcoma DOID_0080372 [An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells.]
inflammatory myofibroblastic tumor DOID_0050905 [A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.]
postural instability hypokinesia SYMP_0000860 [Postural instability hypokinesia is a hypokinesia described as a loss of ability to maintain an upright posture.]
breast scirrhous carcinoma DOID_7578 [A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue.]
epididymis disease DOID_0080373 [A male reproductive system disease that is located_in the epididymis.]
freezing hypokinesia SYMP_0000861 [Freezing hypokinesia is a hypkinesia where a person can not move their muscles how they want them to.]
ovarian sex cord-stromal benign neoplasm DOID_0080370 [A sex cord-stromal benign neoplasm that arises from the ovary.]
blepharocheilodontic syndrome 2 DOID_0080346 [A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.]
blepharocheilodontic syndrome DOID_0080344 [A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.]
malignant pheochromocytoma DOID_0080347 [An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones.]
low-grade fever SYMP_0000879 [A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit).]
mild fever SYMP_0000881 [A fever that is characterized by being mild in form.]
Alzheimer's disease 1 DOID_0080348 [An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.]
Alzheimer's disease DOID_10652 [A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.]
developmental and epileptic encephalopathy 39 DOID_0080349 [A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.]
decreased tongue tone SYMP_0000877
Simpson-Golabi-Behmel syndrome type 2 DOID_0080342 [A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.]
transient fever SYMP_0000878 [A fever that is characterized by a rise of body temperature above the normal that is sustained for only a short period of time.]
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 DOID_0080343 [A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.]