Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
medulloblastoma with extensive nodularity	MONDO_0016710	[Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.]
classic medulloblastoma	MONDO_0016712	[Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.]
obsolete_hereditary arterial and articular multiple calcification syndrome	Orphanet_289601
vestibule of mouth cancer	MONDO_0004727	[A cancer that involves the oral opening.]
oral cavity cancer	EFO_0005570	[A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.]
homocystinuria	MONDO_0004737	[An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.]
inborn disorder of methionine cycle and sulfur amino acid metabolism	MONDO_0019222	[An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.]
inherited organic acidemia	MONDO_0000688	[An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.]
amino acid metabolism disease	MONDO_0037871	[A disease that has its basis in the disruption of cellular amino acid metabolic process.]
central sleep apnea syndrome	MONDO_0004731	[A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.]
sleep apnea	EFO_0003877	[Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types., A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.]
speech disorder	MONDO_0004730	[A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.]
communication disorder	MONDO_0002182	[A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.]
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement	Orphanet_90301
Rare insulin-resistance syndrome	Orphanet_181368
obsolete_2q33.1 microdeletion syndrome	Orphanet_251028
obsolete_Parkes Weber syndrome	Orphanet_90307
astroblastoma	MONDO_0016707	[Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.]
neuroepithelial neoplasm	MONDO_0021193	[A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.]
Ehlers-Danlos syndrome type 1	Orphanet_90309