Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
childhood-onset autosomal recessive myopathy with external ophthalmoplegia	MONDO_0018206
neuro-ophthalmological disease	MONDO_0015368
myopathy, proximal, and ophthalmoplegia	MONDO_0011577
inclusion myopathy	MONDO_0016112
distal monosomy 1q	MONDO_0018205	[1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.]
chromosome 1q deletion	MONDO_0022756	[Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
Myokymia	HP_0002411	[Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.]
neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	MONDO_0018208
neurofibromatosis type 1	MONDO_0018975	[A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.]
2p13.2 microdeletion syndrome	MONDO_0018207	[2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.]
partial deletion of the short arm of chromosome 2	MONDO_0016884
germ cell tumor	EFO_0000514	[A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.]
extragonadal germ cell tumor	MONDO_0018201	[A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).]
20q11.2 microduplication syndrome	MONDO_0018204	[20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.]
partial trisomy of the long arm of chromosome 20	MONDO_0016970
excreta	UBERON_0000174	[A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity.]
LMNA-related cardiocutaneous progeria syndrome	MONDO_0018203	[A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.]
premature aging syndrome	MONDO_0019303	[Changes in the organism associated with senescence, occurring at an accelerated rate.]
blood	UBERON_0000178	[A fluid that is composed of blood plasma and erythrocytes.]
bodily fluid	UBERON_0006314	[Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not.]