Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Fanconi anemia, complementation group W	MONDO_0044325
von Hippel anomaly	MONDO_0020353
Peters anomaly	MONDO_0011414	[Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.]
epithelial basement membrane dystrophy	MONDO_0007375
fleck corneal dystrophy	MONDO_0007376	[Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.]
intellectual developmental disorder with neuropsychiatric features	MONDO_0044322	[Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).]
Schnyder corneal dystrophy	MONDO_0007374	[Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.]
Ramos-Arroyo syndrome	MONDO_0007382	[Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.]
Stern-Lubinsky-Durrie syndrome	MONDO_0007383	[Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.]
lattice corneal dystrophy type I	MONDO_0007380	[Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.]
epithelial recurrent erosion dystrophy	MONDO_0007381	[Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.]
Hepatic steatosis	HP_0001397	[Steatosis is a term used to denote lipid accumulation within hepatocytes.]
polycystic liver disease 4 with or without kidney cysts	MONDO_0044327	[An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.]
congenital dyserythropoietic anemia type 1	MONDO_0020337	[Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.]
Hepatic failure	HP_0001399
synaptic congenital myasthenic syndrome	MONDO_0020346
congenital myopathy with excess of thin filaments	MONDO_0020342
genetic transient congenital hypothyroidism	MONDO_0044331	[An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome.]
bilateral perisylvian polymicrogyria	MONDO_0020340
congenital trigeminal anesthesia	MONDO_0007384	[Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).]