Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| CXCL9 measurement | EFO_0010780 | [Quantification of the amount of CXCL9 protein in a sample] |
| serum urea measurement | EFO_0009795 | [Quantification of the amount of urea in serum.] |
| renal system measurement | EFO_0004742 | [Is a quantification of some renal system biomarker] |
| acrocraniofacial dysostosis | MONDO_0008712 | [Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.] |
| response to supplemental oxygen | EFO_0009796 | [Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen stimulus.] |
| delta/notch like EGF Repeat Containing protein measurement | EFO_0010781 | [Quantification of the amount of delta/notch like EGF repeat containing protein in a sample] |
| adult-onset Still's disease | EFO_0007135 | [A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash., An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain.] |
| arthritis | EFO_0005856 | [Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints., An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.] |
| hemophagocytic syndrome | MONDO_0015540 | [Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).] |
| Goodman syndrome | MONDO_0008711 | [Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.] |
| acrocephalopolysyndactyly | MONDO_0000078 | [A common presentation of craniosynostosis and polysyndactyly.] |
| Carpenter syndrome | MONDO_0019012 | [An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.] |
| obsolete_craniosynostosis, Philadelphia type | Orphanet_1527 | |
| RAB23-related Carpenter syndrome | MONDO_0008710 | [Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.] |
| obsolete_craniomicromelic syndrome | Orphanet_1524 | |
| obsolete_cranio-osteoarthropathy | Orphanet_1525 | |
| aleutian mink disease | EFO_0007139 | [A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible., A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia.] |
| obsolete_craniometaphyseal dysplasia | Orphanet_1522 | |
| Craniofrontonasal dysplasia | Orphanet_1520 | |
| Craniofrontonasal dysplasia - Poland anomaly | Orphanet_1521 |