Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial benign copper deficiency	MONDO_0007368	[Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.]
hereditary coproporphyria	MONDO_0007369	[Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.]
congenital contractural arachnodactyly	MONDO_0007363	[Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.]
5-azacytidine	CHEBI_2038	[A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5.]
Abnormal cellular phenotype	HP_0025354	[An anomaly of cellular morphology or physiology.]
Hip dysplasia	HP_0001385	[The presence of developmental dysplasia of the hip.]
Joint swelling	HP_0001386
thrombocytopenia, anemia, and myelofibrosis	MONDO_0044316
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	MONDO_0044319	[IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).]
Joint laxity	HP_0001388	[Lack of stability of a joint.]
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	MONDO_0044318	[IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).]
hereditary spherocytosis	MONDO_0019350	[Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.]
Meesmann corneal dystrophy	MONDO_0007379	[Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.]
coloboma of eyelid	MONDO_0020357	[A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.]
Al Kaissi syndrome	MONDO_0044324	[Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).]
coloboma of iris	MONDO_0020356	[A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.]
coloboma of eye lens	MONDO_0020355
granular corneal dystrophy type I	MONDO_0007377	[Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.]
developmental delay and seizures with or without movement abnormalities	MONDO_0044326	[DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).]
coloboma of choroid and retina	MONDO_0020354	[Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.]