Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
oculopharyngodistal myopathy	MONDO_0025193	[Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.]
intellectual developmental disorder 59	MONDO_0032795
extraoral halitosis due to methanethiol oxidase deficiency	MONDO_0029144
intellectual developmental disorder with hypertelorism and distinctive facies	MONDO_0029143
vagal placode 1	UBERON_2001297
vagal placode 2	UBERON_2001298
vagal placode 3	UBERON_2001299
obsolete Saul-Wilson syndrome	MONDO_0029146
synucleinopathy	DOID_0050890	[A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]]
zoonotic bacterial infection	MONDO_0044746	[A bacterial infection that is transmitted from animals to people.]
zoonosis	MONDO_0025481	[An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc).]
polydactyly, postaxial, type A8	MONDO_0029130
postaxial polydactyly type A	MONDO_0019673
hypoparathyroidism, familial isolated, 2	MONDO_0020798
malignant epithelial tumor of salivary glands	MONDO_0017167
holoprosencephaly 12 with or without pancreatic agenesis	MONDO_0032787
multiple polyglandular tumor	MONDO_0015079
bile acid CoA ligase deficiency and defective amidation	MONDO_0017165	[Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.]
Glycogen storage disease due to acid maltase deficiency, adult onset	Orphanet_308604	[Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.]
congenital hypotonia, epilepsy, developmental delay, and digital anomalies	MONDO_0032781