Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
esophagus mucosa	UBERON_0002469	[A mucosa that is part of a esophagus [Automatically generated definition].]
Autosomal recessive cerebellar ataxia - saccadic intrusion	Orphanet_95434
enteric nervous system	UBERON_0002005	[The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO].]
Autosomal recessive cerebellar ataxia - blindness - deafness	Orphanet_95433
Congenital tracheomalacia	Orphanet_95430	[Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.]
obsolete_congenital primary aphakia	Orphanet_83461
Dichelobacter nodosus	NCBITaxon_870
interventricular septum	UBERON_0002094	[Cardiac septum which separates the right ventricle from the left ventricle.[FMA].]
Pseudomonas fluorescens Pf-5	NCBITaxon_220664
postcranial axial skeleton	UBERON_0002090	[The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA].]
Lactobacillus plantarum WCFS1	NCBITaxon_220668
Prolonged bleeding time	HP_0003010	[Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.]
Abnormality of the musculature	HP_0003011	[Abnormality originating in one or more muscles, i.e., of the set of muscles of body.]
hypertrichotic osteochondrodysplasia Cantu type	MONDO_0009406	[Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.]
cervical hypertrichosis-peripheral neuropathy syndrome	MONDO_0009405	[Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.]
Fusobacterium nucleatum	NCBITaxon_851
hypertelorism, microtia, facial clefting syndrome	MONDO_0009404	[Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.]
acrofrontofacionasal dysostosis 2	MONDO_0009402	[A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.]
hyperprolinemia type 2	MONDO_0009401	[Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.]
hyperprolinemia	MONDO_0023419	[Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.]