Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hemimegalencephaly	MONDO_0020492	[Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.]
mosaic trisomy 9	MONDO_0020490	[Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.]
progressive familial heart block	MONDO_0019490	[A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.]
leaf mesophyll	PO_0005645	[The chloroplast-containing, photosynthetic parenchymatous tissue situated between the two epidermal layers of the foliage leaf.]
Turcot syndrome with polyposis	MONDO_0020497	[Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.]
familial porencephaly	MONDO_0020496	[An instance of porencephaly that is caused by an inherited modification of the individual's genome.]
porencephaly	MONDO_0017410	[Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.]
oculootodental syndrome	MONDO_0020494	[Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.]
Haddad syndrome	MONDO_0020493	[Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.]
obsolete_hereditary sensory and autonomic neuropathy with spastic paraplegia	Orphanet_139578
obsolete_hereditary sensory and autonomic neuropathy with deafness and global delay	Orphanet_139573
myotonia fluctuans	MONDO_0020481	[Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.]
X-linked hereditary sensory and autonomic neuropathy with deafness	Orphanet_139583
progressive supranuclear palsy	MONDO_0019037	[A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.]
King-Denborough syndrome	MONDO_0020485	[King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.]
Dehalococcoides sp. VS	NCBITaxon_311424
obsolete rare familial disorder with hypertrophic cardiomyopathy	MONDO_0020484
acetazolamide-responsive myotonia	MONDO_0020483	[Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).]
myotonia permanens	MONDO_0020482	[Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).]
malacoplakia	EFO_1001807	[Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body., The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract.]