Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cerebral amyloid angiopathy, APP-related	MONDO_0011583	[A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.]
ABeta amyloidosis, Iowa type	MONDO_0017946	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.]
ABeta amyloidosis, Italian type	MONDO_0017947	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.]
ABetaA21G amyloidosis	MONDO_0017948	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.]
autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	MONDO_0017940	[Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.]
obsolete_Glanzmann thrombasthenia	Orphanet_849	[Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.]
Beta-thalassemia	Orphanet_848	[Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).]
Alpha-thalassemia - X-linked intellectual disability syndrome	Orphanet_847
orbit	BTO_0004687	[The bony socket of the eye.]
Alpha-thalassemia	Orphanet_846	[Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.]
obsolete_Tay-Sachs disease	Orphanet_845
Atrial tachyarrhythmia with short PR interval	Orphanet_844	[Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).]
obsolete_sebocystomatosis	Orphanet_841
minicore myopathy	MONDO_0017939
Eosinophilia	HP_0001880	[Increased count of eosinophils in the blood.]
periodic fever syndrome	MONDO_0015137	[Fevers of unknown etiology recurring over months or years.]
obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency	Orphanet_230839
Transcobalamin deficiency	Orphanet_859	[Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.]
obsolete_Townes-Brocks syndrome	Orphanet_857	[Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.]
intellectual disability, autosomal dominant 56	MONDO_0030922