Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
serum homoarginine measurement	EFO_0005421	[quantification of the amino acid derivate homoarginine in the blood. Low levels are associated with cardiovascular disease risk and for stroke in patients undergoing coronoary angiograpahy and decreased kidney function]
Spondylocarpotarsal synostosis	Orphanet_3275	[Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.]
skin aging	EFO_0005422	[The gradual irreversible changes in structure of skin that occur as a result of the passage of time.. In humans, skin aging can be precipitated as a result of weather and sun exposure, and expresses through the appearance of wrinkles and localised changes in skin pigmentation]
Autosomal recessive spastic paraplegia type 18	Orphanet_209951
ammonium phosphate	CHEBI_62982	["The ammonium salt of phosphoric acid (molar ratio 1:1)." []]
specific language impairment	EFO_1001510	[A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.]
autism spectrum disorder symptom	EFO_0005426	[Symptom associated with autism spectrum disorder such as impairment in verbal and nonverbal communication, social interactions, and/or imaginative play.]
dyssegmental dysplasia, Rolland-Desbuquois type	MONDO_0009139
perlecan-related bone disorder	MONDO_0019689
adolescent idiopathic scoliosis	EFO_0005423	[A scoliosis with no known cause arising in adolescent.]
idiopathic scoliosis	MONDO_0000726	[A scoliosis with no known cause.]
dysosteosclerosis	MONDO_0009138	[Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.]
dyslexia	EFO_0005424	[A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.]
reading disorder	MONDO_0001697	[A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.]
obsolete Glanzmann's thrombasthenia	MONDO_0010119
borderline personality disorder symptom	EFO_0005429	[Symptom associated with borderline personality disorder such as unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior]
social communication impairment	EFO_0005427	[Significant problems using verbal and nonverbal communication for social purposes, leading to impairments in their ability to effectively communicate, participate socially, maintain social relationships, or otherwise perform academically or occupationally.]
congenital dyserythropoietic anemia type 2	MONDO_0009134	[Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.]
cerebellar ataxia, intellectual disability, and dysequilibrium	MONDO_0009133	[A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.]
familial thyroid dyshormonogenesis	MONDO_0010132	[A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.]