Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_hereditary spherocytosis	Orphanet_822
Abnormal circulating carbohydrate concentration	HP_0011013	[A deviation from the normal concentration of a carbohydrate in the blood circulation.]
Weismann-Netter syndrome	MONDO_0007209	[Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.]
obsolete_Sotos syndrome	Orphanet_821
Böök syndrome	MONDO_0007207	[Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.]
Boomerang dysplasia	MONDO_0007208	[Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.]
isolated Pierre-Robin syndrome	MONDO_0009869	[Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.]
obsolete_Pfeiffer syndrome type 2	Orphanet_93259	[Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.]
glycogen storage disease IXb	MONDO_0009868	[Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.]
diaphyseal medullary stenosis-bone malignancy syndrome	MONDO_0007205	[Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).]
obsolete_Pfeiffer syndrome type 1	Orphanet_93258	[Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development.]
lethal congenital glycogen storage disease of heart	MONDO_0009867	[Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.]
phosphoenolpyruvate carboxykinase deficiency, cytosolic	MONDO_0009866	[PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).]
phosphoenolpyruvate carboxykinase deficiency	MONDO_0017320	[Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.]
blue rubber bleb nevus	MONDO_0007203	[Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.]
glycogen storage disease due to phosphoglycerate mutase deficiency	MONDO_0009865	[A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.]
pirinixic acid	CHEBI_32509
phosphoenolpyruvate carboxykinase deficiency, mitochondrial	MONDO_0009864
blepharoptosis-myopia-ectopia lentis syndrome	MONDO_0007202	[This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.]
BH4-deficient hyperphenylalaninemia A	MONDO_0009863	[An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.]