Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_distal symphalangism	Orphanet_3248
multiple epiphyseal dysplasia type 4	MONDO_0009189	[Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.]
sulfation-related bone disorder	MONDO_0019688
epilepsy-telangiectasia syndrome	MONDO_0009188	[Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.]
congenital lethal erythroderma	MONDO_0009198	[A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.]
vitamin K-dependent clotting factors, combined deficiency of, type 1	MONDO_0010187	[Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.]
congenital vitamin K-dependent coagulation factors deficiency	MONDO_0015722	[Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.]
ermine phenotype	MONDO_0009196	[Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.]
familial isolated deficiency of vitamin E	MONDO_0010188	[Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.]
Wolcott-Rallison syndrome	MONDO_0009192	[Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.]
Lowry-Wood syndrome	MONDO_0009191	[Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.]
phenylacetylglutamine	CHEBI_25982
oculogastrointestinal muscular dystrophy	MONDO_0010181	[Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.]
autosomal recessive spondylocostal dysostosis	MONDO_0010180	[Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.]
disorder of fucoglycosan synthesis	MONDO_0017747
methylmalonic aciduria and homocystinuria type cblF	MONDO_0010183	[A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.]
MEL-GATA-1-ER	EFO_0005480	[This is a mouse suspension cell line derived from MEL cells by stable transfection with a GATA-1-ER fusion protein construct as described by Choe et al., 2003 (Cancer Res 63, 6363–6369, 2003). These cells can be terminally differentiated into mature erythroid cells with β-estradiol treatment, while GATA-1 alone can induce MEL cells to differentiate and to lose their tumorigenic properties. [PMID: 14559825]]
MEL cell line	EFO_0003971
negative regulation of platelet aggregation	GO_0090331	[Any process that decreases the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules.]
methylmalonic aciduria and homocystinuria type cblD	MONDO_0010185	[A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.]