All terms in MONDO_RARE

Label Id Description
Creutzfeldt Jacob disease MONDO_0005357 [A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.]
keratitis fugax hereditaria MONDO_0007849
rectal cancer MONDO_0006519 [A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.]
rectal neoplasm MONDO_0002165 [A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.]
colorectal cancer MONDO_0005575 [A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.]
autosomal dominant keratitis MONDO_0007848 [Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.]
corneal dystrophy MONDO_0018102 [The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.]
keratitis MONDO_0003085 [A corneal disease that is characterized by inflammation of the cornea.]
childhood malignant neoplasm MONDO_0006517 [A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).]
cancer MONDO_0004992 [A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.]
childhood neoplasm MONDO_0021079 [A benign or malignant neoplasm arising during childhood.]
Kaposi sarcoma, susceptibility to MONDO_0007845
hereditary neoplastic syndrome MONDO_0015356 [The inherited predisposition toward getting a tumor.]
KBG syndrome MONDO_0007846 [KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.]
hereditary neurological disease MONDO_0100545 [A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.]
syndromic intellectual disability MONDO_0000508 [A intellectual disability that is part of a larger syndrome.]
Kabuki syndrome 1 MONDO_0007843
Kabuki syndrome MONDO_0016512 [Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.]
ACD 25070
hypogonadotropic hypogonadism 2 with or without anosmia MONDO_0007844 [Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.]