All terms in MONDO_RARE

Label Id Description
facial dermatosis MONDO_0006548 [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.]
vulva sarcoma MONDO_0005214 [A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.]
soft tissue sarcoma MONDO_0018078 [A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.]
familial cardiomyopathy MONDO_0005217 [An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.]
cardiomyopathy MONDO_0004994 [A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.]
cardiogenetic disease MONDO_0100547 [A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.]
laryngeal abductor paralysis MONDO_0007876
myopathy, congenital, progressive, with scoliosis MONDO_0032821
congenital myopathy MONDO_0019952
hypopharyngeal carcinoma MONDO_0005216 [Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.]
head and neck carcinoma MONDO_0002038 [A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.]
carcinoma of pharynx MONDO_0021345 [A carcinoma that involves the pharynx.]
hypopharynx cancer MONDO_0005806 [A primary or metastatic malignant neoplasm that affects the hypopharynx.]
developmental and epileptic encephalopathy, 80 MONDO_0032822
epidermolysis bullosa dystrophica MONDO_0006543 [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.]
trichorhinophalangeal syndrome type II MONDO_0007874 [Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.]
trichorhinophalangeal syndrome MONDO_0017951
partial deletion of the long arm of chromosome 8 MONDO_0016907 [Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
ovarian serous adenocarcinoma MONDO_0005211 [An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.]