Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
short stature-pituitary and cerebellar defects-small sella turcica syndrome	MONDO_0009880	[Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).]
tibial muscular dystrophy	MONDO_0010870	[A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.]
Schistosomiasis japonica	EFO_1001419	[Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen.]
Salmonella Infections	EFO_1001418	[Infections with bacteria of the genus SALMONELLA.]
sparse hair-short stature-skin anomalies syndrome	MONDO_0019206	[Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.]
Rhinitis, Allergic, Perennial	EFO_1001417	[Allergic rhinitis caused by indoor allergens and lasting year round., Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc.]
rheumatic fever nodule	EFO_1001416	[A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)]
Retropharyngeal Abscess	EFO_1001415	[An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries.]
myxofibrosarcoma	MONDO_0019202	[A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.]
trichodysplasia-amelogenesis imperfecta syndrome	MONDO_0019205	[The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.]
Sillence syndrome	MONDO_0007227	[Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.]
autosomal recessive polycystic kidney disease	MONDO_0009889	[Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.]
infantile osteopetrosis with neuroaxonal dysplasia	MONDO_0010866	[This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.]
fibular aplasia-ectrodactyly syndrome	MONDO_0007225	[Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.]
pseudoaminopterin syndrome	MONDO_0010865	[Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.]
brachydactyly-nystagmus-cerebellar ataxia syndrome	MONDO_0007226	[Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.]
skin epithelioid hemangioma	EFO_1001424	[A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.]
epithelioid hemangioma	MONDO_0021169	[A hemangioma characterized by the presence of epithelioid endothelial cells.]
Shaken Baby Syndrome	EFO_1001423	[Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death.]
PARC syndrome	MONDO_0010867	[PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.]