All terms in MONDO_RARE

Label Id Description
precocious puberty in female MONDO_0018561 [A precocious puberty that involves the female organism.]
precocious puberty MONDO_0000088 [Unusually early sexual maturity.]
leukodystrophy, hypomyelinating, 19, transient infantile MONDO_0032871
monosomy 22 MONDO_0019891
monosomy MONDO_0020639 [A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.]
chromosome 22 disorder MONDO_0700026 [Chromosomal disorder in which chromosome 22 is affected.]
autosomal semi-dominant severe lipodystrophic laminopathy MONDO_0017230
familial partial lipodystrophy MONDO_0020088 [Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.]
adactyly of foot MONDO_0018563
erythropoietic uroporphyria associated with myeloid malignancy MONDO_0017231
inherited porphyria MONDO_0019142 [Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.]
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome MONDO_0017232 [Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.]
distal monosomy 19p13.3 MONDO_0019893 [Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).]
partial deletion of the short arm of chromosome 19 MONDO_0016897
non-distal trisomy 9q MONDO_0019890 [Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.]
mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 MONDO_0032869
mitochondrial proton-transporting ATP synthase complex deficiency MONDO_0014471 [A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).]
Asperger syndrome MONDO_0005259 [A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.]
autism spectrum disorder MONDO_0005258 [A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.]
pancreatic cancer, susceptibility to, 5 MONDO_0032867