Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | Orphanet_391487 | |
| Ralstonia syzygii | NCBITaxon_28097 | |
| Anaplasma phagocytophilum | NCBITaxon_948 | |
| obsolete_Hb Bart's hydrops fetalis | Orphanet_163596 | [Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.] |
| Dahlberg-Borer-Newcomer syndrome | MONDO_0009533 | [Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.] |
| Wiskott-Aldrich syndrome | MONDO_0010518 | [Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.] |
| Miller-Dieker lissencephaly syndrome | MONDO_0009532 | [A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.] |
| classic lissencephaly | MONDO_0015146 | |
| 13-HODE | CHEBI_72639 | [A HODE that consists of 9Z,11E-octadecadienoic acid carrying a 13-hydroxy substituent.] |
| lipoid proteinosis | MONDO_0009530 | [Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.] |
| alpha thalassemia-X-linked intellectual disability syndrome | MONDO_0010519 | [X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.] |
| infantile-onset X-linked spinal muscular atrophy | MONDO_0010532 | [A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.] |
| contractures-ectodermal dysplasia-cleft lip/palate syndrome | MONDO_0010531 | [Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.] |
| X-linked spinocerebellar ataxia type 4 | MONDO_0010534 | [Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.] |
| Peripheral visual field loss | HP_0007994 | [Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.] |
| Bordetella sp. | NCBITaxon_28081 | |
| Wolbachia pipientis | NCBITaxon_955 | |
| severe early-childhood-onset retinal dystrophy | MONDO_0009549 | [Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.] |
| Stargardt disease | MONDO_0019353 | [Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.] |
| Bdellovibrio bacteriovorus | NCBITaxon_959 |