Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | Orphanet_352563 | |
| obsolete_Frontootopalatodigital syndrome | Orphanet_364541 | [Frontootopalatodigital syndrome is a group of congenital anomalies that span a broad range of clinical severity. This group include different conditions ranging from otopalatodigital syndrome type 1 (OPD1) which is characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and a skeletal dysplasia, to osteodysplasty, Melnick-Needles type (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in males. Within this spectrum includes otopalatodigital syndrome type 2 (OPD2), frontometaphyseal dysplasia (FMD) and Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of MNS) (see these terms).] |
| cholangiocyte | CL_1000488 | [An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts.] |
| Attached earlobe | HP_0009907 | [Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.] |
| osteoprotegerin measurement | EFO_0005918 | [quantification of osteoprotegerin in a sample] |
| Anterior creases of earlobe | HP_0009908 | [Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.] |
| WW6 | EFO_0005915 | [Embryonic stem cells isolated from mix of ~20% C57/B6J, ~75% 129/Sv and ~5% SJL all male strains.] |
| obsolete_familial hyperreninemic hypoaldosteronism type 2 | Orphanet_99764 | |
| ES-CJ7 | EFO_0005916 | [Undifferentiated embryonic stem cells were originally isolated from 129S1/SVImJ strain mice by Swiatek PJ et al. in 1993.] |
| obsolete_familial hyperreninemic hypoaldosteronism type 1 | Orphanet_99763 | |
| obsolete_lumbosacral spina bifida cystica | Orphanet_268758 | |
| recombination measurement | EFO_0005919 | [quantification of any recombination-related factor, such as hotspot usage, African enchrichment and recombination rate] |
| recombination | EFO_0004293 | [Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.] |
| obsolete_thoracolumbosacral spina bifida cystica | Orphanet_268752 | |
| Hypocrea jecorina | NCBITaxon_51453 | |
| vasculature of brain | UBERON_0008998 | [System pertaining to blood vessels in the brain.] |
| posterior lateral line | UBERON_0006334 | [One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.] |
| obsolete_familial encephalopathy with neuroserpin inclusion bodies | Orphanet_85110 | |
| obsolete_hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Orphanet_401948 | |
| Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma | Orphanet_85112 |