Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
familial cold autoinflammatory syndrome 1	MONDO_0007349	[Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.]
Autosomal recessive spastic paraplegia type 39	Orphanet_139480
Eye Burns	EFO_1001788	[Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation.]
cochleosaccular degeneration-cataract syndrome	MONDO_0007346	[Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.]
Angelman syndrome due to maternal 15q11q13 deletion	MONDO_0020302
experimental arthritis	EFO_1001787	[ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN.]
autosomal recessive nonsyndromic hearing loss 9	MONDO_0010986	[Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.]
Prader-Willi syndrome due to paternal 15q11q13 deletion	MONDO_0020301
obsolete_autosomal recessive distal hereditary motor neuropathy	Orphanet_140468
erythroplasia	EFO_1001786	[A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)]
Mayer-Rokitansky-Küster-Hauser syndrome type 2	MONDO_0010989	[Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.]
obsolete_autosomal dominant distal hereditary motor neuropathy	Orphanet_140465
diffuse esophageal spasm	EFO_1001785	[A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA.]
aplasia cutis-myopia syndrome	MONDO_0010988	[Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.]
aplasia cutis congenita	MONDO_0007145	[Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.]
diffuse cutaneous Leishmaniasis	EFO_1001784	[A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.]
clubfoot	MONDO_0007342	[The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.]
desmoplastic fibroma	EFO_1001783	[A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)]
isolated congenital digital clubbing	MONDO_0007343	[Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.]
dental pulp exposure	EFO_1001782	[The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.]