All terms in MONDO_RARE

Label Id Description
paraneoplastic uveitis MONDO_0017212
nasal cavity and paranasal sinus neoplasm MONDO_0056820 [A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.]
head and neck neoplasm MONDO_0005586 [A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.]
8p inverted duplication/deletion syndrome MONDO_0019876 [8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.]
chromosome 8 disorder MONDO_0700015 [Chromosomal disorder in which chromosome 8 is affected.]
postorgasmic illness syndrome MONDO_0017213 [A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.]
urinary system disorder MONDO_0002118 [A disease involving the renal system.]
vitamin B12-responsive methylmalonic acidemia MONDO_0017214 [Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).]
methylmalonic acidemia MONDO_0002012 [A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.]
classic organic aciduria MONDO_0019215
inborn disorder of cobalamin metabolism and transport MONDO_0019220
familial severe combined immunodeficiency MONDO_0031520
severe combined immunodeficiency MONDO_0015974 [Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.]
intellectual developmental disorder with impaired language and dysmorphic facies MONDO_0032851
Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO_0019875
Beckwith-Wiedemann syndrome MONDO_0007534 [Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.]
partial duplication of the short arm of chromosome 11 MONDO_0016948
adrenoleukodystrophy MONDO_0018544 [A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.]
X-linked disease MONDO_0000425 [X-linked form of disease.]
disorder of peroxisomal transporter MONDO_0100372 [Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.]