Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
torsion dystonia 2	MONDO_0009141	[Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.]
Pendred syndrome	MONDO_0010134	[Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.]
Silverman-Handmaker type dyssegmental dysplasia	MONDO_0009140	[Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.]
ANE syndrome	MONDO_0012794	[ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.]
hypertrophic cardiomyopathy 11	MONDO_0012799	[Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.]
Telecanthus - hypertelorism - strabismus - pes cavus	Orphanet_3293
obsolete_Tel Hashomer camptodactyly syndrome	Orphanet_3292	[Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.]
obsolete_Teebi-Shaltout syndrome	Orphanet_3291
obsolete_episodic ataxia type 7	Orphanet_209970
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	MONDO_0012791	[Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.]
mitochondrial DNA depletion syndrome 8a	MONDO_0012792	[Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.]
dihydropyrimidine dehydrogenase deficiency	MONDO_0010130	[Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.]
obsolete_taurodontism	Orphanet_3289
obsolete_episodic ataxia type 6	Orphanet_209967
tooth agenesis	EFO_0005410	[Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth)., A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.]
obsolete_catecholaminergic polymorphic ventricular tachycardia	Orphanet_3286
Blocked Eustachian tube	HP_0040269
obsolete_His bundle tachycardia	Orphanet_3283
Notophthalmus viridescens	NCBITaxon_8316
airway hyperresponsiveness	EFO_0005414	[one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility]