All terms in MONDO_RARE

Label Id Description
lipodystrophy MONDO_0006573 [A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.]
empyema MONDO_0005242 [An accumulation of pus in a body cavity, usually the pleural space.]
familial idiopathic torsion dystonia MONDO_0044816 [An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.]
idiopathic torsion dystonia MONDO_0044811 [Torsion dystonia for which no underlying cause has been identified.]
hereditary sensorimotor neuropathy with hyperelastic skin MONDO_0017237
hereditary motor and sensory neuropathy MONDO_0015358 [A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)]
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO_0018569 [X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.]
hemoglobinopathy Toms River MONDO_0017238
cyanosis, transient neonatal MONDO_0013511
anemia MONDO_0002280 [A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.]
familial progressive hyper- and hypopigmentation MONDO_0017239 [Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.]
hyperpigmentation with or without hypopigmentation, familial progressive MONDO_0007771
ciliary dyskinesia, primary, 43 MONDO_0032874
primary ciliary dyskinesia MONDO_0016575 [A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).]
familial Alzheimer-like prion disease MONDO_0017233
prion disease MONDO_0005429 [A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.]
Kleefstra syndrome due to 9q34 microdeletion MONDO_0019896
Kleefstra syndrome 1 MONDO_0027407 [An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.]
partial monosomy of the long arm of chromosome 9 MONDO_0016908
distal monosomy 4q MONDO_0019895