Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_female infertility due to zona pellucida defect	Orphanet_404466
Eiken syndrome	MONDO_0010803	[Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.]
3-Indolepropionic acid to L-Ornithine ratio	EFO_0021689	[Quantification of the ratio of 3-Indolepropionic acid to L-Ornithine ratio in a sample.]
bladder exstrophy	MONDO_0010805	[Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.]
Right ventricular hypertrophy	HP_0001667	[In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.]
Truncus arteriosus	HP_0001660	[A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.]
Bradycardia	HP_0001662	[A slower than normal heart rate (in adults, slower than 60 beats per minute).]
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	Orphanet_93222
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes	Orphanet_93221
obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	Orphanet_93220
obsolete_adult-onset citrullinemia type I	Orphanet_247573
progressive supranuclear palsy-parkinsonism syndrome	MONDO_0009839	[PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.]
Parana hard-skin syndrome	MONDO_0009838	[A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.]
Solanum chacoense	NCBITaxon_4108
Petunia x hybrida	NCBITaxon_4102
Shwachman-Diamond syndrome	MONDO_0009833	[Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.]
pancreatic agenesis	MONDO_0009832	[Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.]
pancreatic beta cell agenesis with neonatal diabetes mellitus	MONDO_0010813
parkinsonian-pyramidal syndrome	MONDO_0009830	[A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.]
chondrodysplasia-pseudohermaphroditism syndrome	MONDO_0010814	[Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.]