Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
multiple system atrophy	EFO_1001050	[Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years., A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)]
fibular nerve	UBERON_0035652	[Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches.]
N-hexanoylglycine	CHEBI_64390	[An N-acylglycine in which the acyl group is specified as hexanoyl.]
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency	Orphanet_168558
obsolete_spondylometaphyseal dysplasia, A4 type	Orphanet_168555
obsolete_autosomal thrombocytopenia with normal platelets	Orphanet_168629
Robinow-like syndrome	MONDO_0017770	[Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.]
partial bilateral aplasia of the mullerian ducts	MONDO_0015830
Enlarged vestibular aqueduct	HP_0011387	[Increased size of the vestibular aqueduct.]
obsolete_familial scaphocephaly syndrome, McGillivray type	Orphanet_168624
obsolete_dysplasia of head of femur, Meyer type	Orphanet_168621
Morphological abnormality of the semicircular canal	HP_0011380	[An abnormality of the morphology of the semicircular canal.]
erythroderma desquamativum	MONDO_0017787
contractures - webbed neck - micrognathia - hypoplastic nipples syndrome	MONDO_0017788
PENS syndrome	MONDO_0017785	[PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.]
2q23.1 microduplication syndrome	MONDO_0017786	[2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.]
spermatogenic failure 28	MONDO_0054732
20p13 microdeletion syndrome	MONDO_0017780	[20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.]
12p12.1 microdeletion syndrome	MONDO_0017781
developmental and speech delay due to SOX5 deficiency	MONDO_0017782	[Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).]