Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
chromosome 13 disorder	MONDO_0700020	[Chromosomal disorder in which chromosome 13 is affected.]
syndromic anorectal malformation	MONDO_0015246	[A anorectal malformation that is part of a larger syndrome.]
congenital vitreoretinal dysplasia	MONDO_0020247
triploidy	MONDO_0018067	[Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.]
polyploidy	MONDO_0019934	[Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.]
autosomal dominant trichoodontoonychodysplasia-syndactyly	MONDO_0018062
trichodermodysplasia-dental alterations syndrome	MONDO_0018061	[Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.]
trigonocephaly-broad thumbs syndrome	MONDO_0018064	[Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.]
obsolete_amelia of upper limb, unilateral	Orphanet_295053
congenital fibrinogen deficiency	MONDO_0018060	[Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).]
coagulation protein disease	MONDO_0002242	[Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.]
hemorrhagic disease	MONDO_0002243	[Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).]
obsolete_lower limb hypertrophy	Orphanet_295051
obsolete_autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Orphanet_319589
obsolete_amelia of lower limb, unilateral	Orphanet_295057
obsolete_amelia of upper limb, bilateral	Orphanet_295055
obsolete appendix goblet cell carcinoid	MONDO_0006089
obsolete_amelia of lower limb, bilateral	Orphanet_295059
organ development	GO_0048513	[ Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. ]
famililal cerebral cavernous malformations	MONDO_0031037	[A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.]