Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| familial hemophagocytic lymphohistiocytosis type 1 | MONDO_0009974 | [Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.] |
| Charcot-Marie-Tooth disease type 1E | MONDO_0007311 | [A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.] |
| obsolete_Noonan syndrome-like disorder with loose anagen hair | Orphanet_2701 | [Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); short stature often associated with a GH deficiency and psychomotor delays.] |
| reticular dysgenesis | MONDO_0009973 | [Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.] |
| respiratory distress syndrome in premature infants | MONDO_0009971 | [Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.] |
| renal tubular dysgenesis of genetic origin | MONDO_0009970 | [An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.] |
| renal tubular dysgenesis | MONDO_0017609 | [Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.] |
| van den Ende-Gupta syndrome | MONDO_0010959 | [Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.] |
| X-14745 measurement | EFO_0021378 | [Quantification of the amount of X-14745 in a sample.] |
| late-onset junctional epidermolysis bullosa | MONDO_0019309 | [Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.] |
| X-14662 measurement | EFO_0021377 | [Quantification of the amount of X-14662 in a sample.] |
| Myoclonus | HP_0001336 | [Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.] |
| X-14977--vanillin measurement | EFO_0021379 | [Quantification of the amount of X-14977--vanillin in a sample.] |
| obsolete_oculocerebral hypopigmentation syndrome, Cross type | Orphanet_2719 | |
| congenital non-bullous ichthyosiform erythroderma | MONDO_0019306 | [A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.] |
| hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome | MONDO_0010972 | [This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.] |
| X-14626 measurement | EFO_0021374 | [Quantification of the amount of X-14626 in a sample.] |
| obsolete_oculotrichodysplasia | Orphanet_2718 | |
| infundibulopelvic stenosis-multicystic kidney syndrome | MONDO_0010971 | [Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.] |
| X-14625 measurement | EFO_0021373 | [Quantification of the amount of X-14625 in a sample.] |