Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| rhizomelic syndrome, Urbach type | MONDO_0009996 | [Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.] |
| central nervous system venous angioma | EFO_1001774 | [A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding.] |
| Brody myopathy | MONDO_0010977 | [Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.] |
| autosomal dominant popliteal pterygium syndrome | MONDO_0007334 | [Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.] |
| familial focal epilepsy with variable foci | MONDO_0020310 | [Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.] |
| Central Nervous System Helminthiasis | EFO_1001773 | [Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms).] |
| Central Cord Syndrome | EFO_1001772 | [A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent.] |
| Timothy syndrome | MONDO_0010979 | [Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.] |
| obsolete_autosomal dominant hereditary demyelinating motor and sensory neuropathy | Orphanet_140453 | |
| cardiac edema | EFO_1001771 | [Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME).] |
| obsolete_hereditary motor and sensory neuropathy | Orphanet_140450 | |
| Carcinoma, Lewis Lung | EFO_1001770 | [A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy.] |
| congenital pseudoarthrosis of clavicle | MONDO_0007330 | [Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.] |
| X-12095--N1-methyl-3-pyridone-4-carboxamide-to-X-12844 ratio | EFO_0021399 | [Quantification of the ratio of X-12095--N1-methyl-3-pyridone-4-carboxamide to X-12844 in a sample.] |
| obsolete micromelic dwarfism, Fryns type | MONDO_0010994 | |
| indoleacetate-to-N2,N2-dimethylguanosine ratio | EFO_0021396 | [Quantification of the ratio of indoleacetate to N2,N2-dimethylguanosine in a sample.] |
| phakomatosis spilorosea | MONDO_0019327 | |
| phakomatosis pigmentovascularis | MONDO_0017318 | |
| Harrod syndrome | MONDO_0010993 | [Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.] |
| DSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio | EFO_0021395 | [Quantification of the ratio of DSGEGDFXAEGGGVR to ADpSGEGDFXAEGGGVR in a sample.] |