All terms in MONDO_RARE

Label Id Description
autosomal dominant complex spastic paraplegia MONDO_0015087 [Autosomal dominant form of complex hereditary spastic paraplegia.]
corneal dystrophy, punctiform and polychromatic pre-descemet MONDO_0859248
frontotemporal dementia MONDO_0017276 [Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.]
leukodystrophy, hypomyelinating, 24 MONDO_0859242
spinocerebellar ataxia, autosomal recessive 32 MONDO_0859245
autosomal recessive cerebellar ataxia MONDO_0015244 [Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.]
ischemic disease MONDO_0005053 [Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.]
osteoporosis MONDO_0005298 [A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).]
metabolic bone disorder MONDO_0800486 [A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.]
osteogenesis imperfecta and a reduction of bone mineral density. MONDO_0800064 [A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.]
bone resorption disease MONDO_0000837 [A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.]
peripheral vascular disease MONDO_0005294 [Any disorder affecting blood flow through the veins or arteries outside of the heart.]
cluster headache syndrome MONDO_0043537 [A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.]
trigeminal autonomic cephalalgia MONDO_0015530 [A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.]
fetal lung interstitial tumor MONDO_0017289
pleuropulmonary blastoma MONDO_0011014 [A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.]
Xp22.13p22.2 duplication syndrome MONDO_0017284
partial duplication of the short arm of chromosome X MONDO_0017009
auditory neuropathy, autosomal dominant 3 MONDO_0859235
auditory neuropathy MONDO_0021944 [A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.]