All terms in MONDO_RARE

Label Id Description
sebaceous gland disorder MONDO_0006607 [A disease involving the sebaceous gland.]
cutaneous focal mucinosis MONDO_0021653
alopecia MONDO_0004907 [Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.]
collecting duct carcinoma MONDO_0005220 [A carcinoma that arises from epithelial cells of the collecting duct of renal tubule]
renal cell carcinoma MONDO_0005086 [A carcinoma that arises from glandular epithelial cells of the kidney]
hypothyroidism, congenital, nongoitrous, 7 MONDO_0032819
hypothyroidism, congenital, nongoitrous MONDO_0000045
central congenital hypothyroidism MONDO_0016410 [Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.]
congenital laryngeal web MONDO_0007880 [Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.]
holoprosencephaly MONDO_0016296 [Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.]
calciphylaxis MONDO_0017215 [Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.]
calcinosis MONDO_0002123 [Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.]
3q26 microduplication syndrome MONDO_0019878 [3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.]
partial duplication of the long arm of chromosome 3 MONDO_0016954 [Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.]
acute tricyclic antidepressant poisoning MONDO_0018547 [Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.]
poisoning MONDO_0029000 [A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.]
distal trisomy 2q MONDO_0019877 [Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.]
partial duplication of the long arm of chromosome 2 MONDO_0016953 [Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.]
serotonin syndrome MONDO_0018546 [Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).]
nervous system disorder MONDO_0005071 [A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.]