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New terms: 71
| Term |
|---|
| generalized epilepsy (MONDO:0100574) |
| abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit (MONDO:1012860) |
| centronuclear myopathy, DNM2-related, dog (MONDO:1012922) |
| ametapodia-1, chicken (MONDO:1012583) |
| arthrogryposis multiplex congenita, AGRN-related, cattle (MONDO:1012800) |
| Alzheimer disease, APP-related, dog (MONDO:1012949) |
| arachnomelia syndrome, non-human animal (MONDO:1012955) |
| cataract, NID1-related, cattle (MONDO:1012755) |
| arachnomelia syndrome, MOCS1-related, cattle (MONDO:1012706) |
| cataract, CPAMD8-related, cattle (MONDO:1012790) |
| cancer, TP53-related, golden hamster (MONDO:1012767) |
| arthrogryposis multiplex congenita, CHRNB1-related, cattle (MONDO:1012772) |
| amyotrophic lateral sclerosis, SOD1-related, pig (MONDO:1012913) |
| cerebellar ataxia, SELENOP-related, dog (MONDO:1012878) |
| Alzheimer disease, PSEN1-related, crab-eating macaque (MONDO:1012951) |
| centronuclear myopathy 2, BIN1-related, dog (MONDO:1012721) |
| ataxia, HACE1-related, dog (MONDO:1012918) |
| hereditary generalized epilepsy (MONDO:0100576) |
| amyotrophic lateral sclerosis, TARDBP-related, crab-eating macaque (MONDO:1012914) |
| spinocerebellar ataxia, KCNJ10-related, dog (MONDO:1012783) |
| hereditary ataxia, non-human animal (MONDO:1012959) |
| amyotrophic lateral sclerosis, TARDBP-related, Rhesus monkey (MONDO:1012915) |
| canine hereditary ataxia, RAB24-related, dog (MONDO:1012747) |
| amyotrophic lateral sclerosis, TARDBP-related, pig (MONDO:1012916) |
| cataract, non-human animal (MONDO:1012962) |
| ametapodia, chicken (MONDO:1012947) |
| progressive early-onset cerebellar ataxia, SEL1L-related, dog (MONDO:1012731) |
| cancer, RUNX-related, pig (MONDO:1012775) |
| abdominal hernia, TWIST1-related, cattle (MONDO:1012920) |
| cataract, ADAMTSL4-related, cattle (MONDO:1012923) |
| Alzheimer disease, APP-related, Rhesus monkey (MONDO:1012928) |
| chondrodysplasia, COL2A1-related, pig (MONDO:1012751) |
| benign familial juvenile epilepsy, LGI2-related, dog (MONDO:1012713) |
| Alzheimer disease, APP-related, white-tufted-ear marmoset (MONDO:1012926) |
| cerebellar ataxia, ATP1B2-related, dog (MONDO:1012789) |
| ametapodia-2, chicken (MONDO:1012719) |
| cataract, MIP-related, giant panda (MONDO:1012851) |
| cerebellar abiotrophy, VMP1-related, dog (MONDO:1012945) |
| spinocerebellar ataxia, ATXN3-related, white-tufted-ear marmoset (MONDO:1012910) |
| Alzheimer disease, APP-related, crab-eating macaque (MONDO:1012927) |
| amyotrophic lateral sclerosis, non-human animal (MONDO:1012954) |
| centronuclear myopathy, HACD1-related, dog (MONDO:1012674) |
| spinocerebellar ataxia, ITPR1-related, dog (MONDO:1012785) |
| atactic disorder, non-human animal (MONDO:1012958) |
| genetic generalized epilepsy (MONDO:0100575) |
| cerebellar degeneration-myositis complex, SLC25A12-related, dog (MONDO:1012843) |
| arthrogryposis multiplex congenita, KIF21A-related, pig (MONDO:1012839) |
| cerebellar ataxia, non-human animal (MONDO:1012956) |
| Alzheimer disease, PSEN1-related, pig (MONDO:1012917) |
| hereditary cerebellar ataxia, non-human animal (MONDO:1012960) |
| neurodegenerative disease, non-human animal (MONDO:1012953) |
| Alzheimer disease, SORL1-related, pig (MONDO:1012938) |
| Alzheimer disease, APP-related, pig (MONDO:1012929) |
| spinocerebellar ataxia, SPTBN2-related, dog (MONDO:1012784) |
| 60,XX/90,XXY disorder of sexual development, cattle (MONDO:1012852) |
| cerebellar cortical degeneration, SNX14-related, dog (MONDO:1012774) |
| cancer, TP53-related, pig (MONDO:1012769) |
| spinocerebellar ataxia, SCN8A-related, dog (MONDO:1012805) |
| combined generalized and focal epilepsy (MONDO:0100573) |
| hereditary cerebellar ataxia, KCNIP4-related, dog (MONDO:1012827) |
| cataract, FYCO1-related, dog (MONDO:1012924) |
| arachnomelia syndrome, SUOX-related, cattle (MONDO:1012584) |
| amelogenesis imperfecta, non-human animal (MONDO:1012952) |
| cerebellar hypoplasia, VLDLR-associated, dog (MONDO:1012757) |
| centronuclear myopathy, non-human animal (MONDO:1012963) |
| amelogenesis imperfecta, FAM83H-related, rabbit (MONDO:1012944) |
| congenital bovine chondrodysplasia, COL2A1-related, cattle (MONDO:1012752) |
| cerebellar ataxia, dog (MONDO:1012957) |
| Alzheimer disease, PSEN1-related, white-tufted-ear marmoset (MONDO:1012950) |
| cancer, TP53-related, crab-eating macaque (MONDO:1012768) |
| spinocerebellar ataxia, SLC12A6-related, dog (MONDO:1012836) |
Terms renamed: 13
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0007558 | benign occipital epilepsy | self-limited childhood occipital epilepsy |
| MONDO:0020307 | benign childhood occipital epilepsy, Panayiotopoulos type | self-limited epilepsy with autonomic seizures |
| MONDO:1011424 | Complement component 2 deficiency, non-human animal | complement component 2 deficiency, non-human animal |
| MONDO:0020631 | epileptic encephalopathy, infantile or early childhood, 2 | developmental and epileptic encephalopathy 92 |
| MONDO:0020630 | epileptic encephalopathy, infantile or early childhood, 1 | developmental and epileptic encephalopathy 91 |
| MONDO:0010595 | Sertoli cell-only syndrome | obsolete Sertoli cell-only syndrome |
| MONDO:0005579 | epilepsy, idiopathic generalized | idiopathic generalized epilepsy |
| MONDO:1011423 | Complement component 6 deficiency, non-human animal | complement component 6 deficiency, non-human animal |
| MONDO:0020632 | epileptic encephalopathy, infantile or early childhood, 3 | developmental and epileptic encephalopathy 93 |
| MONDO:0015424 | lethal chondrodysplasia, Moerman type | obsolete lethal chondrodysplasia, Moerman type |
| MONDO:0007039 | neurofibromatosis type 2 | NF2-related schwannomatosis |
| MONDO:0015346 | Jeavons syndrome | epilepsy with eyelid myoclonia |
| MONDO:0020308 | benign childhood occipital epilepsy, Gastaut type | childhood occipital visual epilepsy |
Text definitions added: 73
| Term | New Text Definition |
|---|---|
| centronuclear myopathy 2, BIN1-related, dog (MONDO:1012721) | Any centronuclear myopathy that occurs in dogs due to a mutation in the BIN1 gene. |
| cancer, RUNX-related, pig (MONDO:1012775) | Any cancer that occurs in pigs due to a mutation in the RUNX gene created by genetic engineering or gene editing. |
| chondrodysplasia, COL2A1-related, pig (MONDO:1012751) | A severe skeletal dysplasia characterized by shortened long bones, abnormal vertebrae, depressed nasal bridge, and cleft palate that occurs in pigs due to a mutation in the COL2A1 gene created by genetic engineering or gene editing. |
| arachnomelia syndrome, SUOX-related, cattle (MONDO:1012584) | Any arachnomelia syndrome that occurs in cattle due to a mutation in the SUOX gene. |
| arachnomelia syndrome, MOCS1-related, cattle (MONDO:1012706) | Any arachnomelia syndrome that occurs in cattle due to a mutation in the MOCS1 gene. |
| cerebellar ataxia, non-human animal (MONDO:1012956) | Cerebellar ataxia that occurs in non-human animals. |
| abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit (MONDO:1012860) | Abnormal locomotion defined by the loss of typical jumping and blindness at birth due to retinal dysplasia and early-onset cataracts that occurs in rabbits due to a mutation in the RORB gene. |
| Alzheimer disease, APP-related, pig (MONDO:1012929) | Alzheimer disease that occurs in pigs due to a mutation in the APP gene created by genetic engineering or gene editing. |
| cerebellar hypoplasia, VLDLR-associated, dog (MONDO:1012757) | Any cerebellar ataxia that occurs in dogs due to a mutation in the VLDLR gene. |
| cerebellar ataxia, dog (MONDO:1012957) | Cerebellar ataxia that occurs in dogs. |
| cerebellar ataxia, ATP1B2-related, dog (MONDO:1012789) | Any cerebellar ataxia that occurs in dogs due to a mutation in the ATP1B2 gene. |
| arachnomelia syndrome, non-human animal (MONDO:1012955) | A hereditary malformation of the skeletal system in non-human animals. |
| ametapodia-2, chicken (MONDO:1012719) | Any ametopodia that occurs in chickens with recessive inheritance. |
| centronuclear myopathy, HACD1-related, dog (MONDO:1012674) | Any centronuclear myopathy that occurs in dogs due to a mutation in the HACD1 gene. |
| spinocerebellar ataxia, KCNJ10-related, dog (MONDO:1012783) | Any spinocerebellar ataxia that occurs in dogs due to a mutation in the KCNJ10 gene. |
| combined generalized and focal epilepsy (MONDO:0100573) | Any epilepsy where patients have both generalized and focal seizure types, with interictal and/or ictal EEG findings that accompany both seizure types. Patients with Dravet syndrome and Lennox-Gastaut syndrome may have combined focal and generalized epilepsy. |
| cerebellar ataxia, SELENOP-related, dog (MONDO:1012878) | Any cerebellar ataxia that occurs in dogs due to a mutation in the SELENOP gene. |
| cerebellar abiotrophy, VMP1-related, dog (MONDO:1012945) | Any cerebellar abiotrophy that occurs in dogs due to a mutation in the VMP1 gene. |
| amyotrophic lateral sclerosis, TARDBP-related, crab-eating macaque (MONDO:1012914) | Any amyotrophic lateral sclerosis that occurs in crab-eating macaque due to a mutation in the TARDBP gene created by genetic engineering or gene editing. |
| progressive early-onset cerebellar ataxia, SEL1L-related, dog (MONDO:1012731) | Any cerebellar ataxia that occurs in dogs due to a mutation in the SEL1L gene. |
| cataract, MIP-related, giant panda (MONDO:1012851) | Any cataract that occurs in giant pandas due to a mutation in the MIP gene. |
| arthrogryposis multiplex congenita, KIF21A-related, pig (MONDO:1012839) | Any arthrogryposis multiplex congenita that occurs in pigs due to a mutation in the KIF21A gene. |
| Alzheimer disease, PSEN1-related, crab-eating macaque (MONDO:1012951) | Alzheimer disease that occurs in crab-eating macaque due to a mutation in the PSEN1 gene created by genetic engineering or gene editing. |
| arthrogryposis multiplex congenita, AGRN-related, cattle (MONDO:1012800) | Any arthrogryposis multiplex congenita that occurs in cattle due to a mutation in the AGRN gene. |
| X-linked spermatogenic failure 1 (MONDO:0056795) | A cause of male infertility characterized by X-linked inheritance in which only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop) and there are not any sperm cells present in the seminiferous tubules. |
| hereditary ataxia, non-human animal (MONDO:1012959) | Herediatary ataxia that occurs in non-human animals. |
| benign familial juvenile epilepsy, LGI2-related, dog (MONDO:1012713) | Any epilepsy that occurs in dogs due to a mutation in the LGI2 gene. |
| neurodegenerative disease, non-human animal (MONDO:1012953) | Neurodegenerative disease that occurs in non-human animals. |
| cancer, TP53-related, pig (MONDO:1012769) | Any cancer that occurs in pigs due to a mutation in the TP53 gene created by genetic engineering or gene editing. |
| amelogenesis imperfecta, non-human animal (MONDO:1012952) | Amelogenesis imperfecta that occurs in non-human animals. |
| cataract, ADAMTSL4-related, cattle (MONDO:1012923) | Any cataract that occurs in cattle due to a mutation in the ADAMTSL4 gene. |
| cataract, NID1-related, cattle (MONDO:1012755) | Any cataract that occurs in cattle due to a mutation in the NID1 gene. |
| atactic disorder, non-human animal (MONDO:1012958) | Atactic disorder that occurs in non-human animals. |
| genetic generalized epilepsy (MONDO:0100575) | A generalized epilepsy that is understood to have a genetic etiology. This does not always mean that the epilepsy is inherited or can be transmitted to offspring, as the genetic etiology may be a de novo pathogenic variant, or the genetic etiology may have complex/polygenic inheritance. |
| Alzheimer disease, PSEN1-related, white-tufted-ear marmoset (MONDO:1012950) | Alzheimer disease that occurs in white-tufted-ear marmoset due to a mutation in the PSEN1 gene created by genetic engineering or gene editing. |
| cerebellar degeneration-myositis complex, SLC25A12-related, dog (MONDO:1012843) | Any cerebellar ataxia with neuromuscular weakness, increase in serum creatine kinase, and lymphohistiocytic myositis without evidence of intracellular infectious agents that occurs in dogs due to a mutation in the SLC25A12 gene. |
| Alzheimer disease, PSEN1-related, pig (MONDO:1012917) | Alzheimer disease that occurs in pigs due to a mutation in the PSEN1 gene created by genetic engineering or gene editing. |
| generalized epilepsy (MONDO:0100574) | Epilepsy that is characterized by generalized seizure types and may have typical interictal and/or ictal EEG findings that accompany generalized seizure types (for example generalized spike-wave). |
| cataract, non-human animal (MONDO:1012962) | Cataract that occurs in non-human animals. |
| Alzheimer disease, APP-related, crab-eating macaque (MONDO:1012927) | Alzheimer disease that occurs in crab-eating macaque due to a mutation in the APP gene created by genetic engineering or gene editing. |
| amyotrophic lateral sclerosis, TARDBP-related, Rhesus monkey (MONDO:1012915) | Any amyotrophic lateral sclerosis that occurs in Rhesus monkey due to a mutation in the TARDBP gene created by genetic engineering or gene editing. |
| hereditary cerebellar ataxia, KCNIP4-related, dog (MONDO:1012827) | Any cerebellar ataxia that occurs in dogs due to a mutation in the KCNIP4 gene. |
| ametapodia, chicken (MONDO:1012947) | An inherited bone disorder that occurs in chickens and is characterized by abnormal limb development. |
| centronuclear myopathy, DNM2-related, dog (MONDO:1012922) | Any centronuclear myopathy that occurs in dogs due to a mutation in the DNM2 gene. |
| Alzheimer disease, APP-related, Rhesus monkey (MONDO:1012928) | Alzheimer disease that occurs in Rhesus monkey due to a mutation in the APP gene created by genetic engineering or gene editing. |
| Alzheimer disease, APP-related, dog (MONDO:1012949) | Alzheimer disease that occurs in dogs due to a mutation in the APP gene created by genetic engineering or gene editing. |
| spinocerebellar ataxia, ITPR1-related, dog (MONDO:1012785) | Any cerebellar ataxia that occurs in dogs due to a mutation in the ITPR1 gene. |
| cancer, TP53-related, crab-eating macaque (MONDO:1012768) | Any cancer that occurs in crab-eating macaques due to a mutation in the TP53 gene created by genetic engineering or gene editing. |
| amyotrophic lateral sclerosis, TARDBP-related, pig (MONDO:1012916) | Any amyotrophic lateral sclerosis that occurs in pigs due to a mutation in the TARDBP gene created by genetic engineering or gene editing. |
| ataxia, HACE1-related, dog (MONDO:1012918) | Any ataxia that occurs in dogs due to a mutation in the HACE1 gene. |
| spinocerebellar ataxia, SLC12A6-related, dog (MONDO:1012836) | Any cerebellar ataxia that occurs in dogs due to a mutation in the SLC12A6 gene. |
| spinocerebellar ataxia, ATXN3-related, white-tufted-ear marmoset (MONDO:1012910) | Any cerebellar ataxia that occurs in white-tufted-ear marmoset due to a mutation in the ATXN3 gene. |
| congenital bovine chondrodysplasia, COL2A1-related, cattle (MONDO:1012752) | A disproportionate growth of bones resulting in a shortened and compressed body, mainly due to reduced length of the spine and the long bones of the limbs and severe facial dysmorphisms that occurs in cattle due to a mutation in the COL2A1 gene. |
| cerebellar cortical degeneration, SNX14-related, dog (MONDO:1012774) | Progressive cerebellar ataxia that occurs in dogs due to a mutation in the SNX14 gene. |
| cancer, TP53-related, golden hamster (MONDO:1012767) | Any cancer that occurs in golden hamster due to a mutation in the TP53 gene created by genetic engineering or gene editing. |
| hereditary cerebellar ataxia, non-human animal (MONDO:1012960) | Herediatary cerebellar ataxia that occurs in non-human animals. |
| amelogenesis imperfecta, FAM83H-related, rabbit (MONDO:1012944) | Any amelogenesis imperfecta that occurs in rabbits due to a mutation in the FAM83H gene. |
| centronuclear myopathy, non-human animal (MONDO:1012963) | Centronuclear myopathy that occurs in non-human animals. |
| amyotrophic lateral sclerosis, SOD1-related, pig (MONDO:1012913) | Any amyotrophic lateral sclerosis that occurs in pigs due to a mutation in the SOD1 gene created by genetic engineering or gene editing. |
| canine hereditary ataxia, RAB24-related, dog (MONDO:1012747) | Any canine hereditary ataxia that occurs in dogs due to a mutation in the RAB24 gene. |
| cataract, CPAMD8-related, cattle (MONDO:1012790) | Any cataract that occurs in cattle due to a mutation in the CPAMD8 gene. |
| amyotrophic lateral sclerosis, non-human animal (MONDO:1012954) | Amyotrophic lateral sclerosis that occurs in non-human animals. |
| cataract, FYCO1-related, dog (MONDO:1012924) | Any cataract that occurs in dogs due to a mutation in the FYCO1 gene. |
| myoclonic epilepsy in infancy (MONDO:0100566) | A neonatal/infantile epilepsy syndrome that is characterized by the onset of myoclonic seizures between the ages of 6-18 months (range 4 months to 3 years). Males are twice as likely to be affected as females. Antecedent and birth history is unremarkable. Head size and neurological examination are normal. Prior development is usually normal. Cognitive, motor and behavioral difficulties are reported, especially if seizures are poorly controlled. Developmental outcome is normal in 60-85% of cases. Mild intellectual impairment and attention problems can be seen. |
| spinocerebellar ataxia, SPTBN2-related, dog (MONDO:1012784) | Any cerebellar ataxia that occurs in dogs due to a mutation in the SPTBN2 gene. |
| ametapodia-1, chicken (MONDO:1012583) | Any ametopodia that occurs in chickens with dominant inheritance. |
| arthrogryposis multiplex congenita, CHRNB1-related, cattle (MONDO:1012772) | Any arthrogryposis multiplex congenita that occurs in cattle due to a mutation in the CHRNB1 gene. |
| Alzheimer disease, APP-related, white-tufted-ear marmoset (MONDO:1012926) | Alzheimer disease that occurs in white-tufted-ear marmoset due to a mutation in the APP gene created by genetic engineering or gene editing. |
| abdominal hernia, TWIST1-related, cattle (MONDO:1012920) | Hernia of the linea alba that occurs in cattle due to a mutation in the TWIST1 gene. |
| Alzheimer disease, SORL1-related, pig (MONDO:1012938) | Alzheimer disease that occurs in pigs due to a mutation in the SORL1 gene created by genetic engineering or gene editing. |
| hereditary generalized epilepsy (MONDO:0100576) | An instance of generalized epilepsy that is caused by an inherited genomic modification in an individual. |
| spinocerebellar ataxia, SCN8A-related, dog (MONDO:1012805) | Any cerebellar ataxia that occurs in dogs due to a mutation in the SCN8A gene. |
| 60,XX/90,XXY disorder of sexual development, cattle (MONDO:1012852) | A congenital disorder characterized by abnormalities in the development of the sexual characteristics that occurs in cattle due to diploid/triploid (60,XX/90,XXY) mosaicism. |
Text definitions changed: 17
| Term | Old Text Definition | New Text Definition |
|---|---|---|
| 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 (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) | 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. |
| myoclonic-astatic epilepsy (MONDO:0016025) | Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. | A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. |
| epilepsy with eyelid myoclonia (MONDO:0015346) | Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. | A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. |
| idiopathic generalized epilepsy (MONDO:0005579) | A chronic condition characterized by recurrent generalized seizures. | A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures. |
| NARP syndrome (MONDO:0010794) | Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. | A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. |
| biotinidase deficiency (MONDO:0009665) | Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. | A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
| pyridoxal phosphate-responsive seizures (MONDO:0012407) | Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. | A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. |
| structural epilepsy (MONDO:0100035) | Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. | A type of epilepsy that is conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. |
| sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (MONDO:0011835) | A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. | A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. |
| self-limited childhood occipital epilepsy (MONDO:0007558) | Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. | A rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. |
| oxoglutaricaciduria (MONDO:0008759) | Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. | A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures. |
| folinic acid-responsive seizures (MONDO:0019197) | Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. | A very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. |
| early myoclonic encephalopathy (MONDO:0016022) | Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. | A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. |
| MERRF syndrome (MONDO:0010790) | A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. | A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. |
| holocarboxylase synthetase deficiency (MONDO:0009666) | A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. | A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death. |
| pyruvate dehydrogenase deficiency (MONDO:0019169) | Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. | A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. |
| mitochondrial DNA depletion syndrome 4a (MONDO:0008758) | Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. | A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. |
Terms obsoleted with replacement: 1
| Term | Replacement |
|---|---|
| obsolete Sertoli cell-only syndrome (MONDO:0010595) | X-linked spermatogenic failure 1 (MONDO:0056795) |
Terms obsoleted without replacement: 1
| Term |
|---|
| obsolete lethal chondrodysplasia, Moerman type (MONDO:0015424) |
Terms that were previously candidate for obsoletion and are now not anymore: 1
| Term |
|---|
| antibody mediated epilepsy (MONDO:0100029) |