Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_Goldenhar syndrome | Orphanet_374 | [Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.] |
| Thalassemia | EFO_1001996 | [An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.] |
| obsolete_Simpson-Golabi-Behmel syndrome | Orphanet_373 | |
| Sclerodermatomyositis | EFO_1001995 | [Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. [ PMID:PMID:27923520 ]] |
| Scleroderma Polymyositis Overlap Syndrome | EFO_1001994 | [A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis.] |
| obsolete_Glycogen storage disease due to muscle phosphofructokinase deficiency | Orphanet_371 | |
| Glycogen storage disease due to phosphorylase kinase deficiency | Orphanet_370 | [Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).] |
| Scapuloperoneal spinal muscular atrophy | EFO_1001992 | |
| systemic juvenile idiopathic arthritis | EFO_1001999 | [Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.] |
| Tetranychus urticae | NCBITaxon_32264 | |
| obsolete_Hirschsprung disease | Orphanet_388 | [Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.] |
| obsolete_neurodegeneration with brain iron accumulation | Orphanet_385 | |
| obsolete_palmoplantar keratoderma-sclerodactyly syndrome | Orphanet_384 | |
| X-linked mixed deafness with perilymphatic gusher | Orphanet_383 | |
| obsolete_guanidinoacetate methyltransferase deficiency | Orphanet_382 | |
| obsolete_hereditary pheochromocytoma-paraganglioma | Orphanet_29072 | |
| obsolete_Greig cephalopolysyndactyly syndrome | Orphanet_380 | |
| obsolete_partial duplication of the short arm of chromosome 10 | Orphanet_262776 | |
| Paenibacillus | NCBITaxon_44249 | |
| Partial trisomy of the short arm of chromosome 9 | Orphanet_262767 |