All terms in MONDO_RARE

Label Id Description
malignant ovarian serous tumor MONDO_0024885 [An invasive malignant neoplasm 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. It includes serous adenocarcinoma and serous adenocarcinofibroma.]
ovarian adenocarcinoma MONDO_0002752 [An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.]
serous adenocarcinoma MONDO_0005278 [An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.]
Larsen syndrome MONDO_0007875 [Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.]
filamin-related bone disorder MONDO_0019690
spermatogenic failure 30 MONDO_0020851
spermatogenic failure MONDO_0004983 [A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.]
uterine corpus sarcoma MONDO_0005210 [A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.]
sarcoma MONDO_0005089 [A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.]
uterine corpus cancer MONDO_0006003 [A malignant neoplasm involving the body of uterus.]
uterine carcinoma MONDO_0005213 [A carcinoma involving a uterus.]
uterine cancer MONDO_0002715 [Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.]
intellectual disability, autosomal recessive 65 MONDO_0020850
epidermolysis bullosa MONDO_0006541 [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.]
vesiculobullous skin disease MONDO_0006617 [Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)]
LADD syndrome MONDO_0007872 [A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.]
rhabdomyosarcoma MONDO_0005212 [A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.]
familial congenital nasolacrimal duct obstruction MONDO_0007871
hereditary otorhinolaryngologic disease MONDO_0018751 [An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.]
anterior nasal diphtheria MONDO_0020838 [Infection of the anterior nasal structures by Corynebacterium diphtheriae.]