Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
craniometaphyseal dysplasia	MONDO_0015465	[Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.]
pontocerebellar hypoplasia type 6	MONDO_0012683	[Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.]
Beemer-Langer syndrome	MONDO_0010024	[Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.]
apolipoprotein H measurement	EFO_0020951	[Quantification of the amount of apolipoprotein H in a sample.]
combined immunodeficiency due to ZAP70 deficiency	MONDO_0010023	[Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.]
SHORT syndrome	MONDO_0010026	[SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.]
X-linked intellectual disability, Najm type	Orphanet_163937	[Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.]
sialuria	MONDO_0010028	[Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.]
disorder of sialic acid metabolism	MONDO_0017736
free sialic acid storage disease	MONDO_0019366	[Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).]
free sialic acid storage disease, infantile form	MONDO_0010027
Elevated urinary delta-aminolevulinic acid	HP_0003163	[An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.]
immunodeficiency 35	MONDO_0012682	[Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.]
cerebral blood flow measurement	EFO_0007980	[quantification of the flow of blood through vessels in the brain, including flow rate and flow velocity through the vessel. Cerebral blood flow can be assessed using magnetic resonance imaging.]
callous-unemotional behaviour	EFO_0005322	[bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness]
platelet crit	EFO_0007985	[The proportion of blood volume that is occupied by platelets, expressed as a percentage. ]
clonal hematopoiesis mutation measurement	EFO_0020949	[Quantification of the number of known clonal hematopoiesis mutations in a sample.]
platelet component distribution width	EFO_0007984	[The determination of the amount of platelet shape changes present in a sample. [ NCI ], Measure of variation in platelet size.]
pancreatic insulinoma	MONDO_0024677	[An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.]
functional pancreatic neuroendocrine tumor	MONDO_0023206	[A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.]