Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Short stature - pituitary and cerebellar defects - small sella turcica	Orphanet_85442
obsolete_AL amyloidosis	Orphanet_85443	[AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ.]
hypomyelinating leukodystrophy 4	MONDO_0012824	[Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.]
Folsomia candida	NCBITaxon_158441
myopathy, lactic acidosis, and sideroblastic anemia	MONDO_0000863	[Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.]
obsolete_extensor tendons of finger anomalies	Orphanet_3294
Genetic cardiac tumor	Orphanet_271841	[An instance of heart cancer that is caused by a modification of the individual's genome.]
inherited cardiac tumor	MONDO_0017129	[An instance of heart cancer that is caused by a modification of the individual's genome.]
chloroplast membrane	GO_0031969	[ Either of the lipid bilayers that surround a chloroplast and form the chloroplast envelope. ]
pyogenic bacterial infections due to MyD88 deficiency	MONDO_0012839	[Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.]
Congenital finger flexion contractures	HP_0005879	[Multiple bent (flexed) finger joints that cannot be straightened actively or passively.]
Increased circulating IgE level	HP_0003212	[An abnormally increased overall level of immunoglobulin E in blood.]
bilateral microtia-deafness-cleft palate syndrome	MONDO_0012854	[This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.]
Fontaine progeroid syndrome	MONDO_0012853	[A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.]
pulmonary sulcus neoplasm	MONDO_0024813	[A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.]
myoglobinuria	MONDO_0000866
childhood acute lymphoblastic leukemia	MONDO_0000870	[An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.]
pediatric lymphoma	MONDO_0003659	[A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.]
Sabia virus	NCBITaxon_45709
autosomal recessive faciodigitogenital syndrome	MONDO_0009209	[Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.]