monarch-initiative/mondo: v2025-04-01

<details> <summary>New terms: 48</summary>

| Term | ----| | ALPL-related autosomal dominant hypophosphatasia (MONDO:0100608) | | spondyloepimetaphyseal dysplasia, Li-Shao-Li type (MONDO:0976230) | | neuronopathy, distal hereditary motor, autosomal dominant 15 (MONDO:0976226) | | epilepsy, idiopathic generalized, susceptibility to, 19 (MONDO:0976128) | | Perrault syndrome 7 (MONDO:0976232) | | neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia (MONDO:0976131) | | intestinal failure–associated liver disease (MONDO:0100615) | | oocyte/zygote/embryo maturation arrest 22 (MONDO:0976137) | | myopathy, myofibrillar, 13, with rimmed vacuoles (MONDO:0976133) | | Charcot-Marie-tooth disease, axonal, type 2JJ (MONDO:0976227) | | neurodevelopmental disorder with progressive spasticity and brain abnormalities (MONDO:0976233) | | immunodeficiency 132b (MONDO:0976228) | | autosomal dominant syndromic intellectual disability (MONDO:0100601) | | tubulointerstitial kidney disease, autosomal dominant 6 (MONDO:0976234) | | neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment (MONDO:0976236) | | TOR1AIP1-related multisystem disorder (MONDO:0100591) | | COMP-related skeletal dysplasia (MONDO:0100593) | | premature ovarian failure 26 (MONDO:0976129) | | spermatogenic failure, X-linked, 9 (MONDO:0976123) | | COL1A2-related Ehlers-Danlos syndrome (MONDO:0100606) | | heterotaxy, visceral, 13, autosomal (MONDO:0976134) | | leukodystrophy, demyelinating, adult-onset (MONDO:0976138) | | FAT4-related neurodevelopmental disorder (MONDO:0100603) | | heterotaxy, visceral, 14, autosomal (MONDO:0976135) | | mitochondrial dna depletion syndrome 21 (MONDO:0976132) | | intellectual developmental disorder with polymicrogyria and seizures (MONDO:0976124) | | neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies (MONDO:0976130) | | POLR-related leukodystrophy (MONDO:0100605) | | short stature with nonspecific skeletal abnormalities (MONDO:0975810) | | HP:0031690 | | Muggenthaler-Chowdhury-Chioza syndrome (MONDO:0976127) | | neurodevelopmental disorder with speech or visual impairment and brain hypomyelination (MONDO:0976125) | | ocular pterygium-digital keloid dysplasia syndrome (MONDO:0976136) | | COL2A1-related spondyloepiphyseal dysplasia (MONDO:0100602) | | ALPL-related autosomal recessive hypophosphatasia (MONDO:0100609) | | intellectual developmental disorder, autosomal recessive 83 (MONDO:0976231) | | SLC26A2-related skeletal dysplasia (MONDO:0100592) | | intellectual disability, autosomal recessive (MONDO:0100597) | | COL1A2-related osteogenesis imperfecta (MONDO:0100596) | | VPS11-related neurological disorder (MONDO:0100617) | | ciliary dyskinesia, primary, 54 (MONDO:0100607) | | autosomal recessive syndromic intellectual disability (MONDO:0100598) | | immunodeficiency 131 (MONDO:0976229) | | syndromic congenital heart disease (MONDO:0100614) | | neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (MONDO:0976126) | | TOR1AIP1-related nuclear envelopathy (MONDO:0100604) | | hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (MONDO:0100600) | | COL1A1-related Ehlers-Danlos syndrome (MONDO:0100599) |

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<details> <summary>Terms renamed: 21</summary>

| ID | Old Label | New Label | ----|----|----| | MONDO:0011897 | leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | | MONDO:0970943 | spermatogenic failure, x-linked, 8 | spermatogenic failure, X-linked, 8 | | MONDO:0054833 | charcot-marie-tooth disease, axonal, type 2DD | Charcot-Marie-tooth disease, axonal, type 2DD | | MONDO:0010317 | intellectual disability, X-linked, with or without seizures, arx-related | intellectual disability, X-linked, with or without seizures, ARX-related | | MONDO:0013029 | cerebellar ataxia type 9 | spinocerebellar ataxia 9 | | MONDO:0100052 | acetazolamide-responsive hereditary episodic ataxia | obsolete acetazolamide-responsive hereditary episodic ataxia | | MONDO:0016163 | autosomal dominant cerebellar ataxia type II | spinocerebellar ataxia 7 | | MONDO:0000414 | childhood electroclinical syndrome | obsolete childhood electroclinical syndrome | | MONDO:0006748 | epilepsia partialis continua | obsolete epilepsia partialis continua | | MONDO:0044263 | obsolete lutheran suppressor, x-linked | obsolete lutheran suppressor, X-linked | | MONDO:0020073 | adolescent-onset epilepsy syndrome | obsolete adolescent-onset epilepsy syndrome | | MONDO:0002125 | status epilepticus | obsolete status epilepticus | | MONDO:0000412 | neonatal period electroclinical syndrome | obsolete neonatal period electroclinical syndrome | | MONDO:0100036 | variable-age onset epilepsy syndrome | obsolete variable-age onset epilepsy syndrome | | MONDO:0040501 | ehlers-danlos syndrome, arthrochalasia type, 2 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | | MONDO:0014551 | short stature with nonspecific skeletal abnormalities | short stature with nonspecific skeletal abnormalities 1 | | MONDO:0958322 | intellectual developmental disorder, x-linked, syndromic 37 | intellectual developmental disorder, X-linked, syndromic 37 | | MONDO:0030869 | spermatogenic failures 50 | spermatogenic failure 50 | | MONDO:0000413 | infancy electroclinical syndrome | obsolete infancy electroclinical syndrome | | MONDO:0000595 | sexual and gender identity disorders | sexual disorder | | MONDO:0958200 | intellectual developmental disorder, x-linked 113 | intellectual developmental disorder, X-linked 113 |

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<details> <summary>Text definitions added: 23</summary>

| Term | New Text Definition | ----|----| | TOR1AIP1-related nuclear envelopathy (MONDO:0100604) | A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function. | | SLC26A2-related skeletal dysplasia (MONDO:0100592) | Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia. | | COL1A2-related osteogenesis imperfecta (MONDO:0100596) | Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene. | | autosomal dominant syndromic intellectual disability (MONDO:0100601) | Autosomal dominant form of syndromic intellectual disability. | | syndromic congenital heart disease (MONDO:0100614) | Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions. | | ALPL-related autosomal dominant hypophosphatasia (MONDO:0100608) | Any hypophosphatasia in which the cause of the disease is a variant with a dominant negative effect or haploinsufficiency in the ALPL gene. | | ALPL-related autosomal recessive hypophosphatasia (MONDO:0100609) | Any hypophosphatasia in which the cause of the disease is an autosomal recessive loss-of-function in the ALPL gene. | | COMP-related skeletal dysplasia (MONDO:0100593) | Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia. | | inflammatory bowel disease 30 (MONDO:0033643) | An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. | | COL1A1-related Ehlers-Danlos syndrome (MONDO:0100599) | Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome. | | intestinal failure–associated liver disease (MONDO:0100615) | Liver disease found in patients on parenteral nutrition for intestinal failure. May develop with few clinical features. | | retinitis pigmentosa 93 (MONDO:0030797) | Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene. | | autosomal recessive syndromic intellectual disability (MONDO:0100598) | Autosomal recessive form of syndromic intellectual disability. | | TOR1AIP1-related multisystem disorder (MONDO:0100591) | TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis. | | COL2A1-related spondyloepiphyseal dysplasia (MONDO:0100602) | Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes. | | FAT4-related neurodevelopmental disorder (MONDO:0100603) | Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell trafficking, in which the cause of the disease is a variation in the FAT4 gene. | | VPS11-related neurological disorder (MONDO:0100617) | Any neurological disorder in which the cause of the disease is a mutation in the VPS11 gene. | | COACH syndrome 2 (MONDO:0030859) | Any COACH syndrome in which the cause of the disease is a mutation in the CC2D2A gene. | | POLR-related leukodystrophy (MONDO:0100605) | A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. | | isolated facial myokymia (MONDO:0016373) | A condition that consists of spontaneous, gentle, constant, rippling contractions that spread through the affected striated muscle. | | intellectual disability, autosomal recessive (MONDO:0100597) | A broad category of disorders characterized by an impairment to the intelligence an individual possesses, caused by an autosomal recessive genetic disorder. | | COL1A2-related Ehlers-Danlos syndrome (MONDO:0100606) | Any Ehler-Danlos syndrome caused by any variant in the COL1A2 gene. | | ciliary dyskinesia, primary, 54 (MONDO:0100607) | Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP54 gene. |

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<details> <summary>Text definitions changed: 33</summary>

| Term | Old Text Definition | New Text Definition | ----|----|----| | moderate hypophosphatasia (MONDO:0600010) | Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. | A rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. It can inherited via either autosomal dominant or autosomal recessive inheritance. | | obsolete neonatal period electroclinical syndrome (MONDO:0000412) | An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. | OBSOLETE. An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. | | obsolete acetazolamide-responsive hereditary episodic ataxia (MONDO:0100052) | Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide. | OBSOLETE. Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide. | | odontohypophosphatasia (MONDO:0016607) | Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. | A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. It can inherited via either autosomal dominant or autosomal recessive inheritance. | | POLR3-related leukodystrophy (MONDO:0700282) | Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. | Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. | | metabolic dysfunction and alcohol associated liver disease (MONDO:0957896) | A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors. | A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors. | | obsolete childhood electroclinical syndrome (MONDO:0000414) | A electroclinical syndrome that occurs during childhood. | OBSOLETE. A electroclinical syndrome that occurs during childhood. | | Cushing syndrome due to macronodular adrenal hyperplasia (MONDO:0009049) | A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. | A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described. | | pyruvate kinase deficiency of red cells (MONDO:0009950) | Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. | A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia. | | facioscapulohumeral muscular dystrophy (MONDO:0001347) | An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. | An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. | | severe hypophosphatasia (MONDO:0600009) | Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period. | A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period. | | Ehlers-Danlos syndrome, arthrochalasia type (MONDO:0007525) | Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. | An inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. | | mild hypophosphatasia (MONDO:0600011) | Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. | The most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. It is autosomal dominantly inherited. | | TFEB-rearranged renal cell carcinoma (MONDO:0958302) | A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene. | A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene. | | 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). | 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). | | obsolete infancy electroclinical syndrome (MONDO:0000413) | An electroclinical syndrome with onset in infancy occurring between birth and one year of age. | OBSOLETE. An electroclinical syndrome with onset in infancy occurring between birth and one year of age. | | odontoleukodystrophy (MONDO:0019177) | Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. | A leukodystrophy characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. | | adult-onset autosomal dominant demyelinating leukodystrophy (MONDO:0008215) | Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment. | A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. | | hemolytic anemia due to glucophosphate isomerase deficiency (MONDO:0013275) | Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia. | A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment. | | van Maldergem syndrome (MONDO:0017813) | Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. | A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. | | mitochondrial DNA depletion syndrome, myopathic form (MONDO:0012301) | Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. | A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood. | | gamma-glutamylcysteine synthetase deficiency (MONDO:0009259) | Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. | A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. | | thanatophoric dysplasia (MONDO:0017042) | Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. | A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. | | Kniest dysplasia (MONDO:0007987) | Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). | A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones. | | obsolete epilepsia partialis continua (MONDO:0006748) | A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis; Rasmussen syndrome; multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. | OBSOLETE. A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis; Rasmussen syndrome; multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. | | brachydactyly type A1 (MONDO:0007215) | Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. | A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. | | obsolete status epilepticus (MONDO:0002125) | A life-threatening situation in which the brain is in a continuous state of seizure. | OBSOLETE. A life-threatening situation in which the brain is in a continuous state of seizure. | | leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (MONDO:0011897) | A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described. | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. | | episodic ataxia type 1 (MONDO:0008047) | Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. | A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. | | Ehlers-Danlos syndrome, cardiac valvular type (MONDO:0009159) | Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. | A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. | | episodic ataxia type 2 (MONDO:0007163) | Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. | A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. | | 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. | A genetically heterogenous inherited disorder 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. | | obsolete variable-age onset epilepsy syndrome (MONDO:0100036) | An epilepsy syndrome that has an onset during variable ages and stages of life. | OBSOLETE. An epilepsy syndrome that has an onset during variable ages and stages of life. |

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<details> <summary>Terms obsoleted with replacement: 0</summary>

| Term | ----|

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<details> <summary>Terms obsoleted without replacement: 8</summary>

| Term | ----| | obsolete neonatal period electroclinical syndrome (MONDO:0000412) | | obsolete epilepsia partialis continua (MONDO:0006748) | | obsolete status epilepticus (MONDO:0002125) | | obsolete variable-age onset epilepsy syndrome (MONDO:0100036) | | obsolete adolescent-onset epilepsy syndrome (MONDO:0020073) | | obsolete childhood electroclinical syndrome (MONDO:0000414) | | obsolete infancy electroclinical syndrome (MONDO:0000413) | | obsolete acetazolamide-responsive hereditary episodic ataxia (MONDO:0100052) |

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<details> <summary>New obsoletion candidates: 2</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0000105 | anemia, nonspherocytic hemolytic | | MONDO:0008691 | zinc, elevated plasma |

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<details> <summary>Terms that were previously candidate for obsoletion and are now not anymore: 2</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0023030 | dysmorphism cleft palate loose skin | | MONDO:0023046 | ectodermal dysplasia blindness |