Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete episodic kinesigenic dyskinesia 1	MONDO_0007494
dystonia 5	MONDO_0007495	[Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.]
hemolytic anemia due to erythrocyte adenosine deaminase overproduction	MONDO_0020458	[Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.]
6-phosphogluconate dehydrogenase deficiency	MONDO_0020457
diffuse palmoplantar keratoderma - acrocyanosis syndrome	MONDO_0019489	[Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.]
myoclonic epilepsy in non-progressive encephalopathies	MONDO_0019488	[A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.]
obsolete_X-linked distal spinal muscular atrophy	Orphanet_139557
hypothalamic hamartomas with gelastic seizures	MONDO_0019484	[A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.]
obsolete_Distal hereditary motor neuropathy, Jerash type	Orphanet_139552
epilepsy with myoclonic absences	MONDO_0019487
myoclonic epilepsy of infancy	MONDO_0019486
mosaic monosomy X	MONDO_0020467
monosomy X	MONDO_0020466
congenital eyelid retraction	MONDO_0020465	[Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.]
euryblepharon	MONDO_0020464	[Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.]
isolated congenital ectropion	MONDO_0020463	[A congenital ectropion that is not part of a larger syndrome.]
tarsal kink syndrome	MONDO_0020462	[Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.]
epiblepharon	MONDO_0020461
acquired von willebrand syndrome	MONDO_0020460	[Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.]
obsolete_hereditary sensory and autonomic neuropathy type 1B	Orphanet_139564