Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
oromandibular dystonia	MONDO_0019771	[Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.]
X-linked dominant intellectual disability-epilepsy syndrome	MONDO_0019770
myelomeningocele	MONDO_0019773	[Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.]
isolated Dandy-Walker malformation with hydrocephalus	MONDO_0017110
obsolete_spondyloepimetaphyseal dysplasia with multiple dislocations	Orphanet_93360
isolated Dandy-Walker malformation without hydrocephalus	MONDO_0017111
blepharospasm-oromandibular dystonia syndrome	MONDO_0019772	[Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.]
developmental delay with variable intellectual impairment and behavioral abnormalities	MONDO_0032745
CINCA syndrome without NLRP3 mutations	Orphanet_93367
hypoparathyroidism-deafness-renal disease syndrome	MONDO_0007797	[The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.]
obsolete adult hypophosphatasia	MONDO_0007798	[OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.]
mullerian duct anomalies-limb anomalies syndrome	MONDO_0007795	[Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.]
hypochondroplasia	MONDO_0007793	[Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.]
Proportionate short stature	HP_0003508	[A kind of short stature in which different regions of the body are shortened to a comparable extent.]
familial hypocalciuric hypercalcemia 1	MONDO_0007791	[Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.]
lateral floor plate	UBERON_2001256
familial hypocalciuric hypercalcemia 2	MONDO_0007792	[A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.]
Puccinia striiformis f. sp. tritici	NCBITaxon_168172	[Puccinia striiformis f. sp. tritici is the causal agent of stripe (yellow) rust, a serious disease of wheat occurring in most wheat areas with cool and moist weather conditions during the growing season.]
oropharyngeal carcinoma	MONDO_0044926	[Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.]
pharyngeal squamous cell carcinoma	EFO_1001965	[A squamous cell carcinoma that arises from the pharynx.]