Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
4-Nitrophenol measurement	EFO_0021568	[Quantification of the amount of 4-Nitrophenol in a sample.]
Baraitser-Winter syndrome	Orphanet_2995	[Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients.]
Short stature - craniofacial anomalies - genital hypoplasia	Orphanet_2994
obsolete_juvenile polyposis syndrome	Orphanet_2929
Polyneuropathy - intellectual disability - acromicria - premature menopause	Orphanet_2928
Ascites	HP_0001541	[Accumulation of fluid in the peritoneal cavity.]
Polyneuropathy - hand defect	Orphanet_2926
Polymicrogyria - turricephaly - hypogenitalism	Orphanet_2925
obsolete_renal hypoplasia	Orphanet_93101
Unilateral renal agenesis	Orphanet_93100	[Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.]
familial atrial myxoma	MONDO_0009719
obsolete_renal dysplasia	Orphanet_93108
Schwartz-Jampel syndrome	MONDO_0009717	[A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).]
Richieri Costa-da Silva syndrome	MONDO_0009716
myosclerosis	MONDO_0009714	[Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.]
congenital multicore myopathy with external ophthalmoplegia	MONDO_0009712	[An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.]
Isolated polycystic liver disease	Orphanet_2924	[Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).]
congenital fiber-type disproportion myopathy	MONDO_0009711	[A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.]
Thomsen and Becker disease	MONDO_0009710	[A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).]
Hypoplastic hippocampus	HP_0025517	[Underdevelopment of the hippocampus.]