Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal dominant limb-girdle muscular dystrophy type 1E (DES)	MONDO_0018098	[Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.]
muscular dystrophy, limb-girdle, autosomal dominant	MONDO_0015151	[Autosomal dominant form of limb-girdle muscular dystrophy.]
qualitative or quantitative defects of desmin	MONDO_0016187
Weaver-Williams syndrome	MONDO_0018095	[Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.]
obsolete_fibular hemimelia, bilateral	Orphanet_295083
Waardenburg syndrome	MONDO_0018094	[Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.]
hypopigmentation of the skin	MONDO_0019290	[A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.]
West syndrome	MONDO_0018097	[West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.]
infancy electroclinical syndrome	MONDO_0000413	[An electroclinical syndrome with onset in infancy occurring between birth and one year of age.]
neonatal/infantile epilepsy syndrome	MONDO_0100022	[An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.]
obsolete_fibular hemimelia, unilateral	Orphanet_295081
Weill-Marchesani syndrome	MONDO_0018096	[Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.]
autosomal genetic disease	MONDO_0000429	[A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.]
acromelic dysplasia	MONDO_0019695
microcephaly-brachydactyly-kyphoscoliosis syndrome	MONDO_0018091	[Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.]
Congenital absence of upper arm and forearm with hand present, bilateral	Orphanet_295087
Congenital absence of upper arm and forearm with hand present, unilateral	Orphanet_295085
Vogt-Koyanagi-Harada disease	MONDO_0018092	[A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.]
panuveitis	EFO_1001082	[Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved., A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.]
Ophrys fusca	NCBITaxon_145942