Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Bacteroides	NCBITaxon_816
X-linked endothelial corneal dystrophy	MONDO_0010426	[X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.]
corneal endothelial dystrophy	MONDO_0000766	[A corneal dystrophy (disease) that involves the corneal epithelium.]
posterior corneal dystrophy	MONDO_0020214	[Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.]
iminoglycinuria	MONDO_0009448	[Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.]
disorder of neutral amino acid transport	MONDO_0017687	[An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport.]
Lisch epithelial corneal dystrophy	MONDO_0010425	[Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.]
chromosome Xp11.23-p11.22 duplication syndrome	MONDO_0010428	[A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.]
partial duplication of the short arm of chromosome X	MONDO_0017009
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	MONDO_0009446	[Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.]
syndromic X-linked intellectual disability Raymond type	MONDO_0010427	[A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.]
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	MONDO_0009445	[Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.]
ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	MONDO_0009444	[Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.]
autosomal recessive congenital ichthyosis 4B	MONDO_0009443	[Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.]
autosomal recessive congenital ichthyosis 4A	MONDO_0011026	[Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.]
Hyperextensible hand joints	HP_0005639	[The ability of the joints of the hand to move beyond their normal range of motion.]
hair follicle	UBERON_0002073	[A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO].]
Nezelof syndrome	MONDO_0009451
congenital T-cell immunodeficiency	MONDO_0001222	[A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.]
obsolete_qualitative or quantitative defects of alpha-sarcoglycan	Orphanet_207060