monarch-initiative/mondo: v2026-01-06

<details> <summary>New terms: 14</summary>

| 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) |

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<details> <summary>Terms renamed: 7</summary>

| 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 |

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<details> <summary>Text definitions added: 18</summary>

| 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 (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. | | resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (MONDO:0700478) | A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. | | semilobar holoprosencephaly (MONDO:0700419) | A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose. | | palmoplantar pustulosis (MONDO:0015597) | A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background, affecting the palms and soles, sometimes also the lateral aspects of hands and feet. The lesions are usually painful. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking. | | obsolete sodium channelopathy-related small fiber neuropathy (MONDO:0017629) | OBSOLETE. A rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal. | | congenital trochlear nerve palsy (MONDO:0700463) | A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia. | | small plaque parapsoriasis (MONDO:1060188) | A variant of parapsoriasis characterized by round-to-oval plaques less than 5cm in diameter, and it rarely progresses. | | CTCF-related neurodevelopmental disorder (MONDO:0014213) | A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. |

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<details> <summary>Text definitions changed: 4 </summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | parapsoriasis (MONDO:0006592) | Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. | An inflammatory skin disorder of unknown etiology characterized by papules and plaques or scaly patches resembling psoriasis. | | neuronopathy, distal hereditary motor, type 2A (MONDO:0008025) | Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. | Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography. | | guttate psoriasis (MONDO:0023297) | Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy. | A form of psoriasis characterized by a sudden onset of small, red, and scaly teardrop-shaped spots that appear on the arms, legs, and middle of the body, usually triggered by an infection. | | autosomal recessive spastic paraplegia type 70 (MONDO:0018422) | Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. | A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. |

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<details> <summary>Terms obsoleted with replacement: 4</summary>

| Term | Replacement | ----|----| | obsolete spastic paraplegia 70, autosomal recessive (MONDO:0957221) | autosomal recessive spastic paraplegia type 70 (MONDO:0018422) | | obsolete autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome (MONDO:0018773) | myopathy, myofibrillar, 13, with rimmed vacuoles (MONDO:0976133) | | obsolete continuous spikes and waves during sleep (MONDO:0019123) | developmental and/or epileptic encephalopathy with spike-wave activation in sleep (MONDO:0800501) | | obsolete CTCF-related neurodevelopmental disorder (MONDO:0700294) | CTCF-related neurodevelopmental disorder (MONDO:0014213) |

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<details> <summary>Terms obsoleted without replacement: 0</summary>

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<details> <summary>New obsoletion candidates: 5 </summary>

| Mondo ID | Label | |:---|:---| | MONDO:0005719 | Coronavinae infectious disease | | MONDO:0008549 | thoracic dysostosis, isolated | | MONDO:0014866 | Charcot-Marie-Tooth disease axonal type 2T | | MONDO:0034186 | autosomal recessive extra-oral halitosis | | MONDO:0100025 | epilepsy of infancy with migrating focal seizures |

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<details> <summary>Terms that were previously candidates for obsoletion and are now not anymore: 0</summary>

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