Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| xanthinuria type I | MONDO_0010209 | [A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.] |
| hypogonadotropic hypogonadism 23 with or without anosmia | MONDO_0009223 | [Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.] |
| Gollop-Wolfgang complex | MONDO_0009222 | [Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.] |
| femur-fibula-ulna complex | MONDO_0009221 | [Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.] |
| X-linked intellectual disability - craniofacioskeletal syndrome | Orphanet_163979 | |
| obsolete_X-linked intellectual disability, van Esch type | Orphanet_163976 | |
| respiratory symptom measurement | EFO_0007939 | [quantification of the range and severity of respiratory symptoms, either through clinical examination or through a standardised questionnaire assessing variables such as presence and severity of cough, pleghm and dyspnea] |
| Charcot-Marie-Tooth disease type 4J | MONDO_0012640 | [Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.] |
| hereditary spastic paraplegia 32 | MONDO_0012643 | [Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.] |
| RNA interference | GO_0016246 | [The process in which double-stranded RNAs silence cognate genes. Involves posttranscriptional gene inactivation ('silencing') both of transgenes or dsRNA introduced into a germline, and of the host gene(s) homologous to the transgenes or dsRNA. This silencing is triggered by the introduction of transgenes or double-stranded RNA (dsRNA), and can occur through a specific decrease in the level of mRNA, or by negative regulation of translation, of both host genes and transgenes.] |
| Genetic muscular channelopathy | Orphanet_352298 | |
| Thunnus thynnus | NCBITaxon_8237 | |
| Epiblepharon of lower lid | HP_0040151 | |
| impaired psychomotor skills | EFO_0020909 | [Psychomotor impairment occurs when there is a disruption in the connections made between mental and muscle functions.] |
| Familial Scheuermann disease | Orphanet_3135 | |
| Spinal Osteochondrosis | EFO_0008576 | [A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN. [ MeSH ]] |
| alexithymia | MONDO_0000661 | [An agnosia that is a deficiency in understanding, processing, or describing emotions.] |
| obsolete_SCARF syndrome | Orphanet_3134 | |
| 1-benzofuran | CHEBI_35260 | [A benzofuran that has formula C8H6O.] |
| obsolete_Say-field-Coldwell syndrome | Orphanet_3133 |