Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
MYH9-related disease	Orphanet_182050	[MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD).]
inherited bleeding disorder, platelet-type	MONDO_0000009
Tel Hashomer camptodactyly syndrome	MONDO_0008901	[Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.]
skeletal muscle disorder	MONDO_0020120	[A disease involving the skeletal muscle tissue.]
family history of cancer	EFO_0009640	[A form of clinicaly history specifically about cancer in family members.]
malaise	EFO_0009641	[A feeling of general discomfort or uneasiness, an out-of-sorts feeling. [def-source: NCI][attr: CDC Glossary]]
sign or symptom	EFO_0003765	[Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom)., Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient.]
follow-up	EFO_0009642	[The process by which information about the health status of an individual is obtained after a study has officially closed; an activity that continues something that has already begun or that repeats something that has already been done. [def-source: NCI]]
epilepsy, hearing loss, and intellectual disability syndrome	EFO_0009647	[Epilepsy, hearing loss, and intellectual disability syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia.]
parp inhibitor response	EFO_0009648	[Response to PARP inhibitors, a group of pharmacological inhibitors of the enzyme poly ADP ribose polymerase (PARP). They are developed for multiple indications; the most important is the treatment of cancer.]
susceptibility to breast cancer	EFO_0009649	[Susceptibility to breast cancer due to genetic mutation.]
obsolete_Premature aging	Orphanet_79389
pappalysin‐1 measurement	EFO_0010618	[quantification of pappalysin 1 in a sample]
Unclassified genetic skin disorder	Orphanet_79385
cathepsin L1 measurement	EFO_0010619	[quantification of cathepsin L1 in a sample]
Mucopolysaccharidosis with skin involvement	Orphanet_79388
Metabolic disease with skin involvement	Orphanet_79387
renin measurement	EFO_0010616	[quantification of the amount of reninpeptides in a sample]
tumor necrosis factor ligand superfamily member 11 measurement	EFO_0010617	[quantification of the amount of tumor necrosis factor receptor superfamily member 11 in a sample]
Monosomy Xp21	Orphanet_261476