All terms in MONDO_RARE

Label Id Description
mosaic trisomy 4 MONDO_0019865 [Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.]
chromosome 4 disorder MONDO_0700011 [Chromosomal disorder in which chromosome 4 is affected.]
squamous cell carcinoma of liver and intrahepatic biliary tract MONDO_0018534 [Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.]
acute endophthalmitis MONDO_0017202 [Acute form of endophthalmitis.]
purulent endophthalmitis MONDO_0004863
chronic endophthalmitis MONDO_0017203 [Chronic form of endophthalmitis.]
undifferentiated carcinoma of liver and intrahepatic biliary tract MONDO_0018533 [Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated.]
tetrasomy 21 MONDO_0019864 [Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.]
tetrasomy MONDO_0030502 [A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.]
chromosome 21 disorder MONDO_0700124 [Chromosomal disorder in which chromosome 21 is affected.]
thyroid hypoplasia MONDO_0019861 [Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
thyroid hemiagenesis MONDO_0019860 [Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly MONDO_0032816
Mendelian neurodevelopmental disorder MONDO_0100500 [A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.]
bacterial infectious disease with sepsis MONDO_0005229 [An infectious disease caused by bacteria causing sepsis.]
bacterial infectious disease MONDO_0005113 [An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.]
microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO_0032814
cerebrovascular disorder MONDO_0011057 [A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.]
mitochondrial DNA depletion syndrome 17 MONDO_0032815
mitochondrial DNA depletion syndrome MONDO_0018158 [The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.]