Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Clinodactyly of the 5th toe	HP_0001864	[Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).]
benign Samaritan congenital myopathy	MONDO_0017936	[Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.]
autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	MONDO_0017937
mixed sclerosing bone dystrophy with extra-skeletal manifestations	MONDO_0017930
hereditary inclusion body myopathy type 4	MONDO_0017931	[Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.]
muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	MONDO_0017932
hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	MONDO_0017933	[Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.]
obsolete_congenital nephrotic syndrome, Finnish type	Orphanet_839
obsolete_free sialic acid storage disease	Orphanet_834
obsolete_encephalopathy due to sulfite oxidase deficiency	Orphanet_833
intellectual developmental disorder with paroxysmal dyskinesia or seizures	MONDO_0030900
obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency	Orphanet_832
SARS coronavirus	NCBITaxon_227859
severe lateral tibial bowing with short stature	MONDO_0017927	[Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.]
9p13 microdeletion syndrome	MONDO_0017928	[9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).]
chromosome 9p deletion syndrome	MONDO_0008013	[Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.]
congenital achiasma	MONDO_0017929	[Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.]
intellectual disability, X-linked 106	MONDO_0030907
Deep plantar creases	HP_0001869	[The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.]
ABetaL34V amyloidosis	MONDO_0017945	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.]