Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
blood group B	EFO_0600061	[ABO phenotype B, corresponding to the genotype BO or BB.]
ABO blood group	EFO_0600059	[The ABO system consists of A and B antigens and antibodies against these antigens.]
salivary gland cancer	MONDO_0004669	[A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.]
blood group A	EFO_0600060	[ABO phenotype A, corresponding to the genotype AO or AA.]
blood group O	EFO_0600063	[ABO phenotype O, corresponding to the genotype OO.]
blood group AB	EFO_0600062	[ABO phenotype AB, corresponding to the genotype AB.]
papilledema	MONDO_0002003	[Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.]
colon carcinoma in situ	MONDO_0004663	[A in situ carcinoma that involves the colon.]
anaerobic meningitis	MONDO_0002000
8p23.1 microdeletion syndrome	MONDO_0016658	[8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.]
partial deletion of the short arm of chromosome 8	MONDO_0016890	[Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
8p23.1 duplication syndrome	MONDO_0016659	[8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).]
partial duplication of the short arm of chromosome 8	MONDO_0016945	[Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.]
obsolete_autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Orphanet_324611
ring chromosome 5	MONDO_0016654	[Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).]
6p22 microdeletion syndrome	MONDO_0016655	[6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.]
partial deletion of the short arm of chromosome 6	MONDO_0016888
7q31 microdeletion syndrome	MONDO_0016656
8p11.2 deletion syndrome	MONDO_0016657	[8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.]
paternal uniparental disomy of chromosome 1	MONDO_0016650	[Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.]