monarch-initiative/mondo: v2026-01-06

New terms: 14 | Term | ----| | mirror-image polydactyly (MONDO:0700479) | | semilobar holoprosencephaly (MONDO:0700419) | | small plaque parapsoriasis (MONDO:1060188) | | congenital trochlear nerve palsy (MONDO:0700463) | | presynaptic congenital myasthenic syndrome (MONDO:0700466) | | large plaque parapsoriasis (MONDO:1060189) | | resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (MONDO:0700478) | | prenatal benign hypophosphatasia (MONDO:0700424) | | hypomyelination neuropathy-arthrogryposis syndrome (MONDO:0700428) | | idiopathic hypercalciuria (MONDO:0700418) | | paraneoplastic sensory ganglionopathy (MONDO:0700416) | | apolipoprotein A-I deficiency (MONDO:0700513) | | anterior urethral valve (MONDO:0700447) | | non-paraneoplastic sensory ganglionopathy (MONDO:0700415) | Terms renamed: 7 | ID | Old Label | New Label | ----|----|----| | MONDO:0019123 | continuous spikes and waves during sleep | obsolete continuous spikes and waves during sleep | | MONDO:0957221 | spastic paraplegia 70, autosomal recessive | obsolete spastic paraplegia 70, autosomal recessive | | MONDO:0015597 | pustulosis palmaris et plantaris | palmoplantar pustulosis | | MONDO:0004762 | Taylor syndrome | pelvic congestion syndrome | | MONDO:0014213 | intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | CTCF-related neurodevelopmental disorder | | MONDO:0700294 | CTCF-related neurodevelopmental disorder | obsolete CTCF-related neurodevelopmental disorder | | MONDO:0018773 | autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | obsolete autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | Text definitions added: 18 | Term | New Text Definition | ----|----| | pelvic congestion syndrome (MONDO:0004762) | A uterine disorder characterised by chronic pelvic pain caused by reflux or obstruction of the ovarian or pelvic veins, often associated with pelvic or vulvar varicosities. | | myopathy, myofibrillar, 13, with rimmed vacuoles (MONDO:0976133) | A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. | | large plaque parapsoriasis (MONDO:1060189) | A variant of parapsoriasis characterized by erythematous-to-brown patches or thin plaques with fine scales larger than 5cm in diameter. It has a substantial risk to evolve to mycosis fungoides. | | thiamine-responsive dysfunction syndrome (MONDO:0000152) | A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance. | | apolipoprotein A-I deficiency (MONDO:0700513) | A lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). | | anterior urethral valve (MONDO:0700447) | A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis. | | idiopathic hypercalciuria (MONDO:0700418) | A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients. | | biotin-responsive basal ganglia disease (MONDO:0011841) | Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. | | mirror-image polydactyly (MONDO:0700479) | A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. | | prenatal benign hypophosphatasia (MONDO:0700424) | A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease. | | hypomyelination neuropathy-arthrogryposis syndrome (MONDO:0700428) | A rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (