Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
tooth 5V	UBERON_2001142	[Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row.]
rhizomelic chondrodysplasia punctata type 3	MONDO_0010823	[Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.]
PEHO syndrome	MONDO_0009841	[PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.]
tooth 4V	UBERON_2001143	[Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row.]
childhood absence epilepsy	MONDO_0010826	[Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.]
atrioventricular defect-blepharophimosis-radial and anal defect syndrome	MONDO_0010825	[Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.]
tooth 3V	UBERON_2001145	[Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row.]
pharyngeal pouches 2-6	UBERON_2001129
pachygyria-intellectual disability-epilepsy syndrome	MONDO_0010840	[A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.]
multiple cutaneous and mucosal venous malformations	MONDO_0010842	[Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.]
Secundum atrial septal defect	HP_0001684	[A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.]
Myocardial fibrosis	HP_0001685	[Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.]
obsolete_Smith-Magenis syndrome	Orphanet_819	[Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.]
obsolete_Smith-Lemli-Opitz syndrome	Orphanet_818
obsolete_age of onset	HP_0011007
obsolete_peeling skin syndrome	Orphanet_817
Sjögren-Larsson syndrome	Orphanet_816
obsolete_Silver-Russell syndrome	Orphanet_813
sialidosis type I	Orphanet_812
Metabolic disease with macular cherry-red spot	Orphanet_98714