Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Disproportionate short-trunk short stature | HP_0003521 | [A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.] |
| Short stature | HP_0004322 | [A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).] |
| non-syndromic polydactyly, syndactyly and/or hyperphalangy | MONDO_0019714 | |
| obsolete_brachydactyly type A1 | Orphanet_93388 | |
| obsolete_brachydactyly type E | Orphanet_93387 | |
| obsolete_brachydactyly type C | Orphanet_93384 | |
| obsolete_brachydactyly type B | Orphanet_93383 | |
| Brachydactyly type A6 | Orphanet_93382 | |
| humeroradial synostosis | MONDO_0007737 | [Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.] |
| spondyloepiphyseal dysplasia with congenital joint dislocations | MONDO_0007738 | [CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.] |
| congenital Horner syndrome | MONDO_0007735 | [Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.] |
| biliverdin | CHEBI_17033 | [A linear tetrapyrrole produced in the reticuloendothelial system by the first step of heme degradation, catalysed by heme oxygenase.] |
| obsolete_brachydactyly type A5 | Orphanet_93389 | |
| piperonylbutoxide | CHEBI_32687 | [Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst., A benzodioxole that has formula C19H30O5.] |
| Magnaporthe oryzae 70-15 | NCBITaxon_242507 | |
| Elevated circulating glutaric acid concentration | HP_0003530 | [An increased concentration of glutaric acid in the blood.] |
| juvenile sialidosis type II | Orphanet_93399 | |
| obsolete_genochondromatosis type 2 | Orphanet_93398 | |
| obsolete_brachydactyly type A7 | Orphanet_93397 | |
| N-cinnamoylglycine | CHEBI_68616 | [An N-acylglycine in which the acyl group is specified as (2E)-3-phenylprop-2-enoyl (cinnamoyl).] |