Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hypomyelination with brain stem and spinal cord involvement and leg spasticity	MONDO_0014115
Blurred vision	HP_0000622	[Lack of sharpness of vision resulting in the inability to see fine detail.]
Pachycladon	NCBITaxon_106787
Pachycladon novaezelandiae	NCBITaxon_106788
intellectual disability-strabismus syndrome	MONDO_0014119
congenital neutropenia-myelofibrosis-nephromegaly syndrome	MONDO_0014118
autosomal recessive severe congenital neutropenia	MONDO_0028226
iatrogenic botulism	MONDO_0016778	[Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.]
botulism	EFO_0005542	[A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F., A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.]
Charcot-Marie-Tooth disease type 4B3	MONDO_0014117	[Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).]
Abnormal urine sodium concentration	HP_0012603	[An abnormal concentration of sodium in the urine.]
obsolete_situs ambiguus	Orphanet_157769
obsolete_primary intestinal lymphangiectasia	Orphanet_90362
Autosomal recessive infantile hypercalcemia	Orphanet_300547
Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Orphanet_183634
Escherichia coli B	NCBITaxon_37762
obsolete_hypotrichosis simplex of the scalp	Orphanet_90368
physiological sexual disorder	MONDO_0002134	[Physiological disturbances in normal sexual performance in either the male or the female.]
disorder of visual system	MONDO_0024458	[A disease that involves the visual system.]
Periorbital fullness	HP_0000629	[Increase in periorbital soft tissue.]