Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked thrombocytopenia with normal platelets	Orphanet_852
obsolete_Paris-Trousseau thrombocytopenia	Orphanet_851	[Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.]
ABeta amyloidosis, Arctic type	MONDO_0017949	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.]
testicular agenesis	MONDO_0017967
46,XY ovotesticular disorder of sex development	MONDO_0017968	[46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.]
metoprolol	CHEBI_6904	[A propanolamine that has formula C15H25NO3., Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse., A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04)]
Increased red blood cell mass	HP_0001898	[The presence of an increased mass of red blood cells in the circulation.]
Iron deficiency anemia	HP_0001891
laminopathy type Decaudain-Vigouroux	MONDO_0015308	[Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.]
Madras motor neuron disease	MONDO_0015307	[Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.]
46,XX disorder of sex development induced by fetoplacental androgens excess	MONDO_0017962
cataract - microcornea syndrome	MONDO_0015300	[Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.]
Triple A syndrome	Orphanet_869	[Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.]
Triose phosphate-isomerase deficiency	Orphanet_868	[Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.]
obsolete_familial multiple trichoepithelioma	Orphanet_867
intellectual disability, autosomal dominant 47	MONDO_0030912
carmoxirole hydrochloride	CHEBI_64199
Clark-Baraitser syndrome	MONDO_0030914
dimercaprol	CHEBI_64198
obsolete_Treacher-Collins syndrome	Orphanet_861	[Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.]