All terms in MONDO_RARE

Label Id Description
partial deletion of the long arm of chromosome 4 MONDO_0016903 [Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]
3p25.3 microdeletion syndrome MONDO_0018564 [A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.]
partial deletion of the short arm of chromosome 3 MONDO_0016885
autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation MONDO_0018567
hereditary motor and sensory neuropathy, Okinawa type MONDO_0011468 [Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.]
Charcot-Marie-Tooth disease type 2 MONDO_0018993 [A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.]
distal monosomy 14q MONDO_0019898 [Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.]
partial deletion of the long arm of chromosome 14 MONDO_0016912 [Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.]
ciliary dyskinesia, primary, 42 MONDO_0032872
familial omphalocele syndrome with facial dysmorphism MONDO_0017235 [Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.]
rapidly progressive glomerulonephritis MONDO_0017236 [Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.]
glomerulonephritis MONDO_0002462 [A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.]
retinitis pigmentosa 87 with choroidal involvement MONDO_0032873
RPE65-related dominant retinopathy MONDO_0100452 [A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.]
distal monosomy 12q MONDO_0019897
partial deletion of the long arm of chromosome 12 MONDO_0016877
short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO_0018566
intellectual developmental disorder with short stature and behavioral abnormalities MONDO_0032870
distal monosomy 7p MONDO_0019892
partial deletion of the short arm of chromosome 7 MONDO_0016889 [Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.]