All terms in MONDO_RARE

Label Id Description
kidney cancer MONDO_0002367 [Primary or metastatic malignant neoplasm involving the kidney.]
Bart-Pumphrey syndrome MONDO_0007866
Kleine-Levin syndrome MONDO_0007863 [Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances.]
recurrent hypersomnia MONDO_0004617 [Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)]
viral dilated cardiomyopathy MONDO_0005200 [An dilated cardiomyopathy caused by infection with Viruses.]
post-viral disorder MONDO_0021674 [A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.]
dilated cardiomyopathy MONDO_0005021 [Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.]
angioosteohypertrophic syndrome MONDO_0007864 [A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.]
overgrowth syndrome MONDO_0019716 [A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.]
developmental defect during embryogenesis MONDO_0019755 [A disease that has its basis in the disruption of embryonic morphogenesis.]
isolated cloverleaf skull syndrome MONDO_0007861 [Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.]
isolated craniosynostosis MONDO_0015337 [A craniosynostosis that is not part of a larger syndrome.]
Waardenburg syndrome type 3 MONDO_0007862 [Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.]
Waardenburg syndrome MONDO_0018094 [A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.]
restrictive cardiomyopathy MONDO_0005201 [A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.]
intrinsic cardiomyopathy MONDO_0000591 [A cardiomyopathy that is due to abnormalities in heart muscle cells.]
focal palmoplantar and gingival keratoderma MONDO_0007860 [Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.]
congenital myopathy with myasthenic-like onset MONDO_0018528 [Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.]
RYR1-related myopathy MONDO_0100150 [A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.]
osteopetrosis, autosomal dominant 3 MONDO_0020848