Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
trisomy 17p	MONDO_0016840	[Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.]
response to tamsulosin	GO_1901905	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tamsulosin stimulus. Tamsulosin is an alphablocker used in the treatment of difficulty urinating, a common symptom of prostate cancer.]
sweat gland cancer	MONDO_0002206	[A malignant neoplasm that affects the sweat glands.]
purulent endophthalmitis	MONDO_0004863
bowel dysfunction	MONDO_0004880	[Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.]
vitreous disorder	MONDO_0004860	[A disease involving the vitreous humor.]
vitreous body disease	EFO_0008624	[Any disease affecting the vitreous body of the eye. [ NCI ], Any disease affecting the vitreous body of the eye.]
16q24.3 microdeletion syndrome	MONDO_0016838	[16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.]
distal 17p13.3 microdeletion syndrome	MONDO_0016839	[Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.]
Mowat-Wilson syndrome due to a ZEB2 point mutation	MONDO_0016856
Mowat-Wilson syndrome	MONDO_0009341	[Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.]
blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	MONDO_0016857	[Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.]
blepharophimosis, ptosis, and epicanthus inversus syndrome	MONDO_0007201	[Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).]
blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	MONDO_0016858	[Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.]
blepharophimosis-epicanthus inversus-ptosis due to copy number variations	MONDO_0016859	[Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.]
paternal uniparental disomy of chromosome X	MONDO_0016852
ring chromosome Y	MONDO_0016853	[Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.]
49,XXXYY syndrome	MONDO_0016854	[49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.]
Mowat-Wilson syndrome due to monosomy 2q22	MONDO_0016855
atypical Norrie disease due to monosomy Xp11.3	MONDO_0016850	[Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.]