Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Gossypium tomentosum | NCBITaxon_34277 | |
| desmin-related myopathy with Mallory body-like inclusions | MONDO_0019398 | |
| rigid spine muscular dystrophy 1 | MONDO_0011271 | [An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.] |
| Gossypium darwinii | NCBITaxon_34276 | |
| Marinesco-Sjögren syndrome | Orphanet_559 | |
| Gossypium mustelinum | NCBITaxon_34275 | |
| obsolete_Marfan syndrome | Orphanet_558 | [Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.] |
| Gossypium herbaceum | NCBITaxon_34274 | |
| obsolete_isolated anorectal malformation | Orphanet_557 | |
| Senior-Boichis syndrome | MONDO_0019394 | [Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.] |
| Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells | Orphanet_331232 | |
| MODY | Orphanet_552 | [MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.] |
| MERRF | Orphanet_551 | [A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)] |
| MELAS | Orphanet_550 | |
| congenital mitral stenosis | MONDO_0020398 | [Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.] |
| inherited mitral valve disease | MONDO_0042966 | [An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.] |
| obsolete_selective IgM deficiency | Orphanet_331235 | |
| Autosomal recessive limb-girdle muscular dystrophy type 2S | Orphanet_369840 | |
| obsolete_Charcot-Marie-Tooth disease type 4J | Orphanet_139515 | |
| Distal hereditary motor neuropathy type 1 | Orphanet_139518 |