Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Developmental cataract	HP_0000519	[A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.]
Ocular anterior segment dysgenesis	HP_0007700	[Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.]
Waldeyer's ring cancer	MONDO_0004685	[A malignant neoplasm involving the tonsillar ring.]
oropharynx cancer	EFO_1001931	[A primary or metastatic malignant neoplasm that affects the oropharynx.]
learning disability	MONDO_0004681	[A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.]
autoimmune disorder of blood	MONDO_0000602	[A hypersensitivity reaction type II disease that involves the blood.]
Proptosis	HP_0000520	[An eye that is protruding anterior to the plane of the face to a greater extent than is typical.]
hereditary spastic paraplegia 49	MONDO_0014016	[Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.]
hereditary spastic paraplegia 56	MONDO_0014015	[Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.]
pure or complex autosomal recessive spastic paraplegia	MONDO_0017915
recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome	MONDO_0016676	[Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.]
maternal disease-related embryofetopathy	MONDO_0016678
hereditary spastic paraplegia 54	MONDO_0014018	[A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.]
blood group	EFO_0600058	[Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.]
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	MONDO_0016672
complement factor H-related protein 4A measurement	EFO_0600057	[Quantification of the amount of complement factor H-related protein 4A in a sample.]
complement factor H-related proteins measurement	EFO_0600053	[Quantification of the amount of complement factor H-related proteins in a sample.]
Salmonella enterica subsp. indica	NCBITaxon_59207
Dactylellina haptotyla	NCBITaxon_430498
localized junctional epidermolysis bullosa, non-Herlitz type	MONDO_0016673	[Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.]