Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Charcot-Marie-Tooth disease X-linked recessive 2	MONDO_0010550	[X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.]
segmental bronchus	UBERON_0002184	[The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted].]
Restrictive external ophthalmoplegia	HP_0007936	[Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.]
oculotrichoanal syndrome	MONDO_0009560
bronchiole	UBERON_0002186	[The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching.]
O-[(9Z)-tetradecenoyl]-L-carnitine	CHEBI_84647	[An O-tetradecenoyl-L-carnitine in which the acyl group is specified as myristoleoyl.]
Charcot-Marie-Tooth disease X-linked recessive 3	MONDO_0010551	[X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.]
Abruzzo-Erickson syndrome	MONDO_0010554	[Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.]
main bronchus	UBERON_0002182	[One of two branches of the trachea.]
X-linked chondrodysplasia punctata 1	MONDO_0010555	[Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.]
respiratory bronchiole	UBERON_0002188	[A bronchiole that is the first segment of the respiratory zone.]
12,13-DiHOME	CHEBI_72665	[A DiHOME obtained by formal dihydroxylation of the 12,13-double bond of octadeca-9,12-dienoic acid (the 9Z-geoisomer).]
obsolete_partial deletion of the short arm of chromosome 7	Orphanet_261911
9,10-DiHOME	CHEBI_72663	[A DiHOME obtained by formal dihydroxylation of the 9,10-double bond of octadeca-9,12-dienoic acid (the 12Z-geoisomer).]
anaplastic lung carcinoma	EFO_1000016	[A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation]
X-linked progressive cerebellar ataxia	MONDO_0010547
Hennekam-Beemer syndrome	MONDO_0009569	[Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.]
mast syndrome	MONDO_0009568	[Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.]
acidosis	EFO_1000014	[An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic, An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.]
Charcot-Marie-Tooth disease X-linked dominant 1	MONDO_0010549	[Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.]