Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
phytosterol measurement	EFO_0004862	[Is the quantification of phytosterol, plant derived cholesterol like compounds.]
obsolete_Carney-Stratakis syndrome	Orphanet_97286	[Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.]
hereditary spastic paraplegia 15	MONDO_0010044	[Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.]
X-linked intellectual disability, Nascimento type	Orphanet_163956
internalizing disorder	EFO_0020971	[A type of mental or behavioral disorder, typically in children and young adults, with symptoms including depression, anxiety and withdrawal.]
autosomal recessive cutis laxa type 2, classic type	MONDO_0009054
hereditary spastic paraplegia 17	MONDO_0010043	[Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.]
revision of total knee arthroplasty	EFO_0020972	[A surgical procedure of the knee joint in which some or all of the parts of the original prosthesis are removed and replaced for the purpose of correcting any problems that have developed since the initial surgery, such as aseptic loosening.]
ALDH18A1-related de Barsy syndrome	MONDO_0009053	[ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.]
de Barsy syndrome	MONDO_0017569	[A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.]
hereditary spastic paraplegia 23	MONDO_0010046	[Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.]
revision of total hip arthroplasty	EFO_0020973	[A surgical procedure of the hip joint in which some or all of the parts of the original prosthesis are removed and replaced for the purpose of correcting any problems that have developed since the initial surgery, such as aseptic loosening.]
hereditary spastic paraplegia 5A	MONDO_0010047	[Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.]
spastic paraplegia-glaucoma-intellectual disability syndrome	MONDO_0010049	[Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.]
Charlevoix-Saguenay spastic ataxia	MONDO_0010041	[Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.]
GM12867	EFO_0005340
GM12868	EFO_0005341
obsolete_Rotor syndrome	Orphanet_3111	[Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.]
GM12871	EFO_0005344
obsolete_Rombo syndrome	Orphanet_3110	[Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.]