Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| otopalatodigital syndrome spectrum disorder | MONDO_0018233 | [Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.] |
| filamin-related bone disorder | MONDO_0019690 | |
| epidermolysis bullosa | EFO_1000690 | [Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool., a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.] |
| epidermolysis bullosa acquisita | EFO_1000691 | [Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB., epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma.] |
| facial dermatosis | EFO_1000698 | [Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.] |
| fibroepithelial polyp of the anus | EFO_1000699 | [A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium., Also called fibrous polyp or anal tag, this is one of the most frequent anal lesions and is found at the dentate line, anal mucosa or in the perianal skin  . Fibroepithelial polyps may be associated with local inflammation such as fissure or fistula  . Granulomas can be found in about one third of skin tags in cases of Crohn disease  . Others may represent the end stage of a thrombosed haemorrhoid, but remnants of haemorrhoidal vessels or signs of previous bleeding are rarely found. Most are probably of idiopathic nature as the incidence is rather similar in patients with or without anal diseases. Grossly, the polyp is spherical or elongated with a greater diameter ranging from a few millimetres up to 4 cm. The surface is white or grey and may show superficial ulceration. Histologically, it consists of a fibrous stroma covered by squamous epithelium, which usually is a slightly hyperplastic and may be keratinized. The stroma may be more or less dense and often contains fibroblastic cells with two or more nuclei and a considerable number of mast cells  . Neuronal hyperplasia is a common feature.] |
| anal polyp | MONDO_0060766 | [A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.] |
| erythrasma | EFO_1000696 | [a skin disease that causes brown, scaly skin patches. It is caused by the Gram-positive bacterium Corynebacterium minutissimum. It is prevalent among diabetics and the obese, and in warm climates; it is worsened by wearing occlusive clothing.] |
| erythema multiforme | EFO_1000694 | [A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness., Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).] |
| erythematosquamous dermatosis | EFO_1000695 | [A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff., Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance.] |
| epidermolysis bullosa dystrophica | EFO_1000692 | [an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly., A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.] |
| inherited epidermolysis bullosa | MONDO_0019276 | [Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.] |
| erythema infectiosum | EFO_1000693 | [A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern., usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus.] |
| Parvoviridae infectious disease | MONDO_0025371 | [Virus infections caused by the parvoviridae.] |
| finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome | MONDO_0018249 | |
| homozygous 2p21 microdeletion syndrome | MONDO_0018246 | |
| 2p21 microdeletion syndrome | MONDO_0015583 | [The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.] |
| 2p21 microdeletion syndrome without cystinuria | MONDO_0018245 | [2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.] |
| intellectual disability-seizures-macrocephaly-obesity syndrome | MONDO_0018248 | [Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.] |
| mitochondrial complex IV deficiency, nuclear-type | MONDO_0033885 |