Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
nutritional biotin deficiency	MONDO_0000461
biotin metabolic disease	MONDO_0020699	[A deficiency in biotin through either inherited or acquired causes.]
obsolete_primary Fanconi syndrome	Orphanet_3337
hereditary spastic paraplegia 31	MONDO_0012453	[A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.]
valvula cerebelli	UBERON_2000603	[Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain.]
congenital primary aphakia	MONDO_0012456	[Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.]
extracellular space of host	GO_0043655	[ The space within a host but external to the plasma membrane of host cells, e.g. within host bloodstream. ]
intracellular region of host	GO_0043656
host cell part	GO_0033643	[ Any constituent part of a host cell. The host is defined as the larger of the organisms involved in a symbiotic interaction. ]
host cell	GO_0043657
spinocerebellar ataxia type 28	MONDO_0012450	[Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.]
dystonic disorder	MONDO_0003441	[A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.]
obsolete_Weismann-Netter syndrome	Orphanet_3344
obsolete_arterial tortuosity syndrome	Orphanet_3342
Torticollis - keloids - cryptorchidism - renal dysplasia	Orphanet_3341
dysembryoplastic neuroepithelial tumor	EFO_0005551	[A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B]
focal dystonia	MONDO_0000477	[A dystonia that is localized to a specific part of the body.]
gum cancer	EFO_0005557	[A primary or metastatic malignant neoplasm that affects the gums.]
gingival neoplasm	MONDO_0021086	[A benign or malignant neoplasm that affects the upper or lower gingiva.]
gingiva	UBERON_0001828	[The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001].]