Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
choroidal sclerosis	MONDO_0004885	[A neurodegenerative disease that involves the optic choroid.]
ovarian sarcoma	MONDO_0002225	[A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.]
obsolete_Rare genetic gynecological and obstetrical diseases	Orphanet_183731
Neuromuscular disease with dilated cardiomyopathy	Orphanet_217610
guanidinoacetate	CHEBI_131444	[A monocarboxylic acid anion that is the conjugate base of guanidinoacetic acid, obtained by deprotonation of the carboxy group.]
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	MONDO_0014213
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	MONDO_0014212	[A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.]
sulfite oxidase deficiency due to molybdenum cofactor deficiency	MONDO_0020480
severe dermatitis-multiple allergies-metabolic wasting syndrome	MONDO_0014218
Mitochondrial disease with dilated cardiomyopathy	Orphanet_217613
partial deletion of the long arm of chromosome 12	MONDO_0016877
partial deletion of chromosome 12	MONDO_0017277
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	Orphanet_217616
intellectual disability-hypotonia-spasticity-sleep disorder syndrome	MONDO_0014210
Oral motor hypotonia	HP_0030190	[Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.]
enamel caries	MONDO_0002233	[A dental caries that involves the enamel.]
vaginitis	MONDO_0002234	[A non-infectious or infectious inflammatory process affecting the vagina.]
vaginal disorder	MONDO_0001433	[A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.]
hypotropia	MONDO_0004897	[Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.]
refractive error	MONDO_0004892	[A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.]