All terms in MONDO_RARE

Label Id Description
inherited neurodegenerative disorder MONDO_0024237 [An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.]
developmental disability MONDO_0005287 [Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)]
paranasal sinus neoplasm MONDO_0005289 [A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.]
skull neoplasm MONDO_0024653 [A benign or malignant neoplasm that affects the bones and structures of the skull.]
paranasal sinus disorder MONDO_0001735 [A disease involving the paranasal sinus.]
retinal disorder MONDO_0005283 [Any disease or disorder of the retina.]
brain aneurysm MONDO_0005291 [A congenital or acquired aneurysm within the cranium.]
cerebral arterial disease MONDO_0006693 [Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.]
colitis MONDO_0005292 [Inflammation of the colon.]
gastroenteritis MONDO_0002269 [An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.]
colonic disorder MONDO_0003409 [Pathological processes in the colon region of the large intestine (intestine, large).]
partial deletion of chromosome 12 MONDO_0017277
syndrome caused by partial chromosomal deletion MONDO_0000761 [A chromosomal disorder consisting of the absence of a part of a chromosome.]
chromosome 12 disorder MONDO_0700019 [Chromosomal disorder in which chromosome 12 is affected.]
autoimmune polyendocrinopathy MONDO_0017278 [A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.]
polyendocrinopathy MONDO_0015126
young-onset Parkinson disease MONDO_0017279 [A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.]
Parkinson disease MONDO_0005180 [A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.]
leukodystrophy, childhood-onset, remitting MONDO_0859246
spastic paraplegia-facial-cutaneous lesions syndrome MONDO_0017275 [Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.]