Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
skeletal dysplasia-intellectual disability syndrome	MONDO_0010668	[Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.]
Prieto syndrome	MONDO_0010667	[This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.]
GM08388	CLO_0010521	[ATAXIA-TELANGIECTASIA MUTATED GENE; ATM ATAXIA-TELANGIECTASIA; AT]
syndactyly type 8	MONDO_0010669	[Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.]
Miyoshi myopathy	MONDO_0009685	[A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.]
obsolete_T-B+ severe combined immunodeficiency	Orphanet_317416	[T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.]
obsolete wheat allergic disease	MONDO_0007021	[OBSOLETE. Allergic reaction to wheat that is triggered by the immune system.]
autosomal recessive limb-girdle muscular dystrophy type 2H	MONDO_0009683	[Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.]
familial abdominal aortic aneurysm	MONDO_0007031	[An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.]
Abdominal Aortic Aneurysm	EFO_0004214	[An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm., Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.]
X-linked myopathy with excessive autophagy	MONDO_0010684	[X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.]
X-linked centronuclear myopathy	MONDO_0010683	[X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.]
N syndrome	MONDO_0010686	[N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.]
maternally-inherited progressive external ophthalmoplegia	MONDO_0019016
short fifth metacarpals-insulin resistance syndrome	MONDO_0019017	[Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.]
obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques	MONDO_0019014
autosomal dominant cataract	MONDO_0022672	[A syndromic cataract that has autosomal dominant inheritance.]
congenital isolated hyperinsulinism	MONDO_0019010	[Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.]
islet cell adenomatosis	MONDO_0007834	[A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.]
obsolete cataract - glaucoma	MONDO_0022676