Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Weaver syndrome | MONDO_0010193 | [Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.] |
| Werner syndrome | MONDO_0010196 | [Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.] |
| oculocerebrodental syndrome | MONDO_0034145 | |
| obsolete_persistent combined dystonia | Orphanet_391711 | |
| JVM-2 | EFO_0005476 | |
| obsolete_KARPAS 422 | EFO_0005477 | |
| BL-2 | EFO_0005475 | |
| obsolete_tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | Orphanet_293284 | |
| obsolete_U-266 | EFO_0005478 | |
| Z-138 | EFO_0005479 | |
| Penicillium corylophilum | NCBITaxon_70792 | |
| periventricular grey zone | UBERON_2000516 | |
| superior colliculus | UBERON_0001945 | [Part of the midbrain tecturm consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of supeior colliculus from Wikipedia.org and Neuronames (MM).] |
| endocrine pancreas | UBERON_0000016 | [The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin.] |
| secretory cell | CL_0000151 | [A cell that specializes in controlled release of one or more substances.] |
| islet of Langerhans | UBERON_0000006 | [The clusters of hormone-producing cells that are scattered throughout the pancreas.] |
| Lactobacillus reuteri 100-23 | NCBITaxon_349123 | |
| Spermophilus tridecemlineatus | NCBITaxon_43179 | |
| Aspergillus fumigatus | NCBITaxon_746128 | |
| wing | UBERON_0000023 | [Appendage that is shaped in order to produce lift for flight through the air.] |