Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
methyl glyoxal	CHEBI_17158	[A 2-oxo aldehyde that has formula C3H4O2., This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade., A 2-oxoaldehyde derived from propanal.]
palmoplantar keratoderma i, striate, focal, or diffuse	MONDO_0007859
palmoplantar keratoderma-esophageal carcinoma syndrome	MONDO_0007856	[An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.]
keratosis palmaris et plantaris-clinodactyly syndrome	MONDO_0007857	[Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.]
keratolytic winter erythema	MONDO_0007854	[Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.]
nicotinamide	CHEBI_17154	[A pyridinecarboxamide that is pyridine in which the hydrogen at position 3 is replaced by a carboxamide group.]
(R)-lactic acid	CHEBI_42111
palmoplantar keratoderma-deafness syndrome	MONDO_0007852	[Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.]
lithium atom	CHEBI_30145
mitochondrial complex III deficiency, nuclear type	MONDO_0020811
mitochondrial complex III deficiency	MONDO_0015448	[Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).]
pituitary hormone deficiency secondary to storage disease	MONDO_0019844
acquired central diabetes insipidus	MONDO_0019846	[Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.]
acropectororenal dysplasia	MONDO_0019840	[Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.]
syndromic breast hypoplasia/aplasia	MONDO_0015856
xylitol	CHEBI_17151	[A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from xylose by reduction of the carbonyl group.]
obsolete_familial ovarian cancer	Orphanet_213517
Bart-Pumphrey syndrome	MONDO_0007866
Helicobacter pylori	NCBITaxon_210
isolated cloverleaf skull syndrome	MONDO_0007861	[Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.]