Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
8q24.3 microdeletion syndrome	MONDO_0014263
Magnaporthe grisea	NCBITaxon_148305
renal artery disease	MONDO_0002286	[A disease involving the renal artery.]
macrocytic anemia	MONDO_0002281	[Anemia that is characterized by increased red blood cell volume.]
West Nile fever	MONDO_0002282	[A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)]
obsolete_46,XY ovotesticular disorder of sex development	Orphanet_325345
immunodeficiency 18	MONDO_0014278	[Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.]
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	MONDO_0015703
pectoral fin musculature	ZFA_0000563
pelvic girdle	ZFA_0000565	[Subdivision of free lower limb, which is the proximal segment of a lower limb and links the free lower limb to the trunk; it is demarcated by the plane of the surface of the acetabular fossa from the free lower limb; together with the free lower limb, it constitutes the lower limb. Examples: There are only two instances, right and left pelvic girdles.]
microcephaly-thin corpus callosum-intellectual disability syndrome	MONDO_0014273	[Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.]
palmoplantar keratoderma, Nagashima type	MONDO_0014272	[Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.]
autosomal recessive isolated diffuse palmoplantar keratoderma	MONDO_0020096	[Autosomal recessive form of isolated diffuse palmoplantar keratoderma.]
STT3B-CDG	MONDO_0014271	[STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).]
STT3A-CDG	MONDO_0014270	[STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).]
combined immunodeficiency due to CD3gamma deficiency	MONDO_0014276	[Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.]
L-ferritin deficiency	MONDO_0014274
Hofbauer cell	CL_3000001	[Oval eosinophilic histiocytes with granules and vacuoles found in placenta, which are of mesenchymal origin, in mesoderm of the chorionic villus, particularly numerous in early pregnancy.]
macrophage	CL_0000235	[A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.]
macrocephaly-developmental delay syndrome	MONDO_0014289	[Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.]