Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cleft lip/palate-ectodermal dysplasia syndrome	MONDO_0009151	[An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.]
obsolete_cone dystrophy with supernormal rod response	Orphanet_209932
chemotherapy-induced alopecia	EFO_0005400	[Hair loss as a result of chemotherapy treatment., hair loss as a result of chemotherapy treatment]
obsolete_proximal symphalangism	Orphanet_3250
response to dietary potassium supplementation	EFO_0005403	[Physiological response of an organism to being given potassium as a dietary supplement.]
response to cold pressor test	EFO_0005404	[physiological response, in terms of blood pressure, heart rate or pain, to a cardiovascular test performed by immersing the hand into ice water, usually for one minute ]
response to high sodium diet	EFO_0005401	[physiological response of an organism, eg in terms of blood pressure, to being fed a diet high in sodium]
lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	MONDO_0012757	[Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.]
response to low sodium diet	EFO_0005402	[physiological response of an organism, eg in terms of blood pressure, to being fed a diet low in sodium]
congenital lactase deficiency	MONDO_0009115	[Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.]
congenital sucrase-isomaltase deficiency	MONDO_0009114	[A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose.]
pyroglutamine measurement	EFO_0005408	[the quantification of pyroglutamine, a metabolite significantly associated with increased risk of heart failure]
hemolytic anemia due to diphosphoglycerate mutase deficiency	MONDO_0009113	[A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.]
response to antihypertensive drug	EFO_0005405	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antihypertensive drug.]
obsolete_syndactyly-polydactyly-ear lobe syndrome	Orphanet_3259
rhizomelic chondrodysplasia punctata type 2	MONDO_0009112	[Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.]
Cenani-Lenz syndrome	Orphanet_3258	[Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.]
dihydropyrimidinuria	MONDO_0009111	[Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.]
von Voss-Cherstvoy syndrome	MONDO_0009121	[Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.]
tetraamelia-multiple malformations syndrome	MONDO_0010110	[Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.]