All terms in MONDO_CLINGEN

Label Id Description
disorder of GPI anchor biosynthesis MONDO_0024321 [A disease that has its basis in the disruption of GPI anchor biosynthetic process.]
parathyroid gland disorder MONDO_0001223 [A disease involving the parathyroid gland.]
homocystinuria MONDO_0004737 [An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.]
amino acid metabolism disease MONDO_0037871 [A disease that has its basis in the disruption of cellular amino acid metabolic process.]
sleep-wake disorder MONDO_0003406 [Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.]
sleep disorder MONDO_0100081 [A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.]
SELENON-related myopathy MONDO_0100100 [Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.]
vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO_0010187 [Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.]
congenital vitamin K-dependent coagulation factors deficiency MONDO_0015722 [Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.]
aminoacylase 1 deficiency MONDO_0012368 [Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.]
inborn aminoacylase deficiency MONDO_0017686 [An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.]
urea cycle disorder MONDO_0004739 [A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.]
inborn disorder of amino acid and other organic acid metabolism MONDO_0019189
methylmalonic aciduria and homocystinuria type cblF MONDO_0010183 [A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.]
methylmalonic aciduria and homocystinuria MONDO_0016826 [An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).]
BAP1-related tumor predisposition syndrome MONDO_0013692 [BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.]
methylmalonic aciduria and homocystinuria type cblC MONDO_0010184 [A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.]
disorder of tyrosine metabolism MONDO_0017307
atelosteogenesis MONDO_0000389
osteochondrodysplasia MONDO_0005516 [A term referring to disorders characterized by abnormalities in the development of bones and cartilage.]