Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
glycogen storage disease due to GLUT2 deficiency	MONDO_0009216	[Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.]
Birk-Barel syndrome	MONDO_0012856	[Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).]
Fanconi anemia complementation group D2	MONDO_0009214	[Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.]
Fanconi anemia complementation group C	MONDO_0009213	[Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.]
congenital factor X deficiency	MONDO_0009212	[Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.]
diclofenac	CHEBI_47381	[A monocarboxylic acid consisting of phenylacetic acid having a (2,6-dichlorophenyl)amino group at the 2-position. A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt., A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt.]
anti-inflammatory drug	CHEBI_35472	[A substance that reduces or suppresses inflammation.]
congenital factor VII deficiency	MONDO_0009211	[Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.]
insect dorsal epidermis primordium	UBERON_6005526
congenital factor V deficiency	MONDO_0009210	[Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.]
factor V deficiency	MONDO_0020586	[A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.]
Ehlers-Danlos syndrome, spondylocheirodysplastic type	MONDO_0012873	[Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.]
Ehlers-Danlos syndrome, spondylodysplastic type	MONDO_0007526	[A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.]
Neck pain	HP_0030833	[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.]
xeroderma pigmentosum group C	MONDO_0010211	[An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.]
Shoulder pain	HP_0030834	[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.]
xeroderma pigmentosum group A	MONDO_0010210	[Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.]
organelle envelope lumen	GO_0031970	[ The region between the inner and outer lipid bilayers of an organelle envelope. ]
membrane-enclosed lumen	GO_0031974
heparin cofactor 2 deficiency	MONDO_0012876