Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
porokeratosis of Mibelli	MONDO_0019141	[Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.]
Human adenovirus 41	NCBITaxon_10524
synaptopathy	MONDO_0021017	[A disease caused by dysfunction of synapses.]
atelosteogenesis type III	MONDO_0007168	[Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.]
atelosteogenesis type I	MONDO_0007167	[Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.]
spastic ataxia 1	MONDO_0007164	[Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.]
autosomal dominant spastic ataxia	MONDO_0017846	[Autosomal dominant form of spastic ataxia.]
spastic ataxia 7	MONDO_0007165	[Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.]
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Orphanet_313808	[Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.]
Thromboembolism	HP_0001907	[The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.]
obsolete_optic nerve edema-splenomegaly syndrome	Orphanet_313800
obsolete_Braddock syndrome	Orphanet_52047	[Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.]
Streptococcus sp. 'group A'	NCBITaxon_36470
quinolinate(2-)	CHEBI_29959
cob	ZEA_0015075	[The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy).]
Acute kidney injury	HP_0001919	[Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).]
Aplastic anemia	HP_0001915	[Aplastic anemia is defined as pancytopenia with a hypocellular marrow.]
Pancytopenia	HP_0001876	[An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).]
Renal amyloidosis	HP_0001917	[A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).]
glucitol	CHEBI_30911