Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
inherited hemoglobinopathy	MONDO_0019050	[An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.]
congenital anemia	MONDO_0000577	[Anemia, the cause of which is present at birth.]
obsolete_pure hereditary spastic paraplegia	Orphanet_102012
hemochromatosis	EFO_1000642	[A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption.]
obsolete_complex hereditary spastic paraplegia	Orphanet_102013
Other syndrome with lissencephaly as a major feature	Orphanet_102010
Lissencephaly	Orphanet_48471
basal ganglia cerebrovascular disease	EFO_1000640	[A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).]
basal ganglia disease	EFO_0009533	[A disease involving the basal ganglia.]
obsolete_lissencephaly type 3	Orphanet_102011
obsolete_progressive familial intrahepatic cholestasis type 1	Orphanet_79306
obsolete_progressive familial intrahepatic cholestasis type 3	Orphanet_79305
estrogen-receptor positive breast cancer	EFO_1000649	[A subtype of breast cancer that is estrogen-receptor positive]
Breast Carcinoma by Gene Expression Profile	EFO_1000143	[A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.]
Congenital bile acid synthesis defect type 3	Orphanet_79302	[Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.]
renal tubular transport disease	EFO_1000647	[Genetic defects in the selective or non-selective transport functions of the kidney tubules., Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.]
Congenital bile acid synthesis defect type 1	Orphanet_79301	[Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malaborption.]
developmental dysplasia of the hip	EFO_1000648	[A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.]
bone development disease	EFO_0005541	[A disease involving the bone development., A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.]
hip	UBERON_0001464	[The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified].]