Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
cerebelloparenchymal disorder	MONDO_0000114
obsolete_olfactory pit	EFO_0003496
obsolete_otic lateral line neuromast	EFO_0003499
obsolete_neural rod	EFO_0003498	[An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube.]
Genetic erythrokeratoderma	Orphanet_183438
obsolete_inherited ichthyosis	Orphanet_183435
spastic paraplegia-severe developmental delay-epilepsy syndrome	MONDO_0014764	[Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.]
spinocerebellar ataxia type 25	MONDO_0012103	[Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.]
obsolete Bombay phenotype	MONDO_0014763
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	MONDO_0014768	[Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.]
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	MONDO_0007432
acquired partial lipodystrophy	MONDO_0012104	[A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.]
partial lipodystrophy	MONDO_0027767	[Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.]
acquired lipodystrophy	MONDO_0020089	[An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.]
leukodystrophy and acquired microcephaly with or without dystonia;	MONDO_0014766
congenital heart defects, multiple types	MONDO_0000119
reticulate pigment disorder	MONDO_0000118
giant axonal neuropathy	MONDO_0000128	[A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.]
geleophysic dysplasia	MONDO_0000127	[Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').]
Oreochromis niloticus	NCBITaxon_8128