Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
multiple epiphyseal dysplasia 4	DOID_0070300	[A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.]
Abnormality of limbs	HP_0040064
hemolytic anemia	SYMP_0000631
anemia	SYMP_0000208
hip pain	SYMP_0000632
frontal headache	SYMP_0000630
Abnormality of limb bone morphology	HP_0002813	[Any abnormality of bones of the arms or legs.]
Abnormality of limb bone	HP_0040068
Abnormal appendicular skeleton morphology	HP_0011844	[An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.]
absence epilepsy	DOID_0070309	[An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.]
electroclinical syndrome	DOID_0050701	[An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.]
Coxa vara	HP_0002812	[Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.]
Abnormality of the femoral neck	HP_0003367	[An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).]
Abnormality of the knee	HP_0002815	[An abnormality of the knee joint or surrounding structures.]
Abnormality of lower limb joint	HP_0100491
craniolenticulosutural dysplasia	DOID_0070307	[A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.]
Abnormality of the lower limb	HP_0002814	[An abnormality of the leg.]
rippling muscle disease 1	DOID_0070308	[A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.]
tenesmus	SYMP_0000648
terminal ileitis	SYMP_0000649