Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| cleidocranial dysplasia | MONDO_0007340 | [Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.] |
| Commotio Cordis | EFO_1001781 | [A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation.] |
| cleidorhizomelic syndrome | MONDO_0007341 | [Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.] |
| coloboma, ocular, autosomal dominant | MONDO_0007350 | |
| 47,XYY syndrome | MONDO_0019339 | [47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.] |
| familial apolipoprotein B hypobetalipoproteinemia | EFO_1001789 | [An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.] |
| Rare hypolipidemia | Orphanet_181431 | |
| iatrogenic Creutzfeldt-Jakob disease | MONDO_0034976 | |
| mild hyperphenylalaninemia | MONDO_0019335 | [Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.] |
| autosomal recessive hyperinsulinism due to Kir6.2 deficiency | MONDO_0019334 | |
| diazoxide-resistant diffuse hyperinsulinism | MONDO_0015625 | [Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.] |
| Gardner syndrome | MONDO_0019336 | [Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.] |
| obsolete_autosomal recessive ataxia due to ubiquinone deficiency | Orphanet_139485 | |
| pili gemini | MONDO_0019330 | [Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.] |
| autosomal recessive hyperinsulinism due to SUR1 deficiency | MONDO_0019333 | |
| punctate palmoplantar keratoderma type 1 | MONDO_0019332 | [Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..] |
| femoral hernia | EFO_1001791 | [A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL.] |
| female athlete triad syndrome | EFO_1001790 | [A condition of competitive female athletes in which there are interrelated problems of EATING DISORDERS; AMENORRHEA; and OSTEOPOROSIS.] |
| obsolete_hereditary sensory and autonomic neuropathy | Orphanet_140471 | |
| obsolete_hemochromatosis type 4 | Orphanet_139491 |