Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_congenital muscular dystrophy | Orphanet_97242 | |
| obsolete_rigid spine syndrome | Orphanet_97244 | |
| Ossification anomalies - psychomotor development delay | Orphanet_73230 | |
| Primary bone dysplasia with defective bone mineralization | Orphanet_93447 | |
| obsolete_congenital myopathy | Orphanet_97245 | |
| obsolete_pontocerebellar hypoplasia type 3 | Orphanet_97249 | |
| pectoral fin cartilage | ZFA_0000257 | [Cartilage which is part of the pectoral fin.] |
| fenofibrate | CHEBI_5001 | ["A chlorobenzophenone that has formula C20H21ClO4." []] |
| fenoldopam | CHEBI_5002 | ["A benzazepine that has formula C16H16ClNO3." []] |
| alpha-adrenergic agonist | CHEBI_35569 | |
| Brassica rapa subsp. pekinensis | NCBITaxon_51351 | |
| Brodmann (1909) area 38 | UBERON_0006479 | [Brodmann area 38, also BA38 or temporopolar area 38 (H), is part of the temporal cortex in the human brain. BA 38 is at the anterior end of the temporal lobe, known as the temporal pole. BA38 is a subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. It is located primarily in the most rostral portions of the superior temporal gyrus and the middle temporal gyrus. Cytoarchitecturally it is bounded caudally by the inferior temporal area 20, the middle temporal area 21, the superior temporal area 22 and the ectorhinal area 36 (Brodmann-1909). Cytoarchitectonic and chemoarchitectonic studies find that it contains at least seven subareas, one of which, TG, is unique to humans. 'The functional significance of this area TG is not known, but it may bind complex, highly processed perceptual inputs to visceral emotional responses.' This area is among the earliest affected by Alzheimer's disease and the earliest involved at the start of temporal lobe seizures.] |
| obsolete_zebra body myopathy | Orphanet_97240 | |
| Autosomal recessive spastic paraplegia type 63 | Orphanet_401805 | |
| sialidosis type II | Orphanet_87876 | |
| sialidosis | MONDO_0017734 | [Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.] |
| Metabolic disease with cataract | Orphanet_98712 | |
| obsolete_autosomal recessive spastic paraplegia type 60 | Orphanet_401800 | |
| obsolete_Fetal Gaucher disease | Orphanet_85212 | [Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).] |
| obsolete_trunk mesoderm anlage | EFO_0003400 |