Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_autosomal recessive Stickler syndrome	Orphanet_250984
Beare-Stevenson cutis gyrata syndrome	MONDO_0007412	[Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.]
obsolete_X-linked sideroblastic anemia with ataxia	Orphanet_2802
Cyprus facial-neuromusculoskeletal syndrome	MONDO_0007413	[Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.]
obsolete_partial trisomy of the long arm of chromosome 18	Orphanet_262977
obsolete_juvenile Paget disease	Orphanet_2801
isolated cryptophthalmia	MONDO_0007410	[Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.]
idiopathic juvenile osteoporosis	MONDO_0019409	[Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.]
phosphatidylcholine 40:7 measurement	EFO_0021477	[Quantification of phosphatidylcholine 40:7 in a sample.]
Astley-Kendall dysplasia	MONDO_0019408	[Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.]
phosphatidylcholine 39:5 measurement	EFO_0021476	[Quantification of phosphatidylcholine 39:5 in a sample.]
triacylglycerol 49:1 measurement	EFO_0021479	[Quantification of triacylglycerol 49:1 in a sample.]
Spastic paraplegia - facial-cutaneous lesions	Orphanet_2819
phosphatidylcholine 40:8 measurement	EFO_0021478	[Quantification of phosphatidylcholine 40:8 in a sample.]
Spastic paraplegia - glaucoma - intellectual disability	Orphanet_2818
facial onset sensory and motor neuronopathy	MONDO_0019405	[Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.]
phosphatidylcholine 36:0 measurement	EFO_0021473	[Quantification of phosphatidylcholine 36:0 in a sample.]
perineurioma	MONDO_0019404	[A usually benign perineurioma not associated with a nerve, arising from the soft tissues.]
phosphatidylcholine 35:5 measurement	EFO_0021472	[Quantification of phosphatidylcholine 35:5 in a sample.]
Spastic paraplegia - epilepsy - intellectual disability	Orphanet_2816