All terms in MONDO_RARE

Label Id Description
bone marrow failure syndrome 4 MONDO_0020856
bone marrow failure syndrome MONDO_0000159
Pelizaeus-Merzbacher-like disease MONDO_0017226 [Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).]
distal trisomy 22q MONDO_0019889 [Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.]
partial duplication of the long arm of chromosome 22 MONDO_0016972
spermatogenic failure 32 MONDO_0020855
distal trisomy 20q MONDO_0019888 [Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.]
partial trisomy of the long arm of chromosome 20 MONDO_0016970
autoimmune pancreatitis type 1 MONDO_0017227 [Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.]
autoimmune pancreatitis MONDO_0015175 [Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.]
chronic pancreatitis MONDO_0005003 [A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.]
Liddle syndrome 2 MONDO_0020854 [Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.]
Liddle syndrome MONDO_0008323 [A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.]
autoimmune pancreatitis type 2 MONDO_0017228 [Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.]
distal monosomy 12p MONDO_0017229 [Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.]
chromosome 12p deletion MONDO_0022174 [A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.]
fetal lower urinary tract obstruction MONDO_0018559
urogenital tract malformation MONDO_0019356
Usher syndrome, type 1M MONDO_0032841
Pelizaeus-Merzbacher disease, classic form MONDO_0017222 [The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.]