{ "id": 16437, "label": "monogenic epilepsy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015653", "properties": { "xrefs": [ "GARD:0020086", "MEDGEN:1842675", "Orphanet:166472", "UMLS:C5680430" ], "synonyms": [ "monogenic disease with epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 18, "parents": [ { "id": 6761, "label": "epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1826", "EFO:0000474", "ICD10CM:G40", "ICD10WHO:G40", "ICD9:345", "ICD9:345.8", "ICD9:345.80", "ICD9:345.9", "ICD9:345.90", "ICD9:345.91", "MEDGEN:4506", "MESH:D004827", "NCIT:C3020", "SCTID:84757009", "UMLS:C0014544", "birnlex:12718" ], "synonyms": [ "epilepsy", "seizure disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." }, "child_count": 13, "reference_id": "MONDO:0005027" } ], "children": [ { "id": 10573, "label": "Mowat-Wilson syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 16437, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060485", "GARD:0009673", "ICD9:759.89", "MEDGEN:341067", "MESH:C536990", "NANDO:1200663", "NANDO:2200981", "NCIT:C74999", "NORD:1456", "OMIM:235730", "Orphanet:2152", "SCTID:703535000", "UMLS:C1856113", "icd11.foundation:1985672762" ], "synonyms": [ "Hirschsprung disease intellectual disability syndrome", "Hirschsprung disease-intellectual disability syndrome", "Mowat-Wilson syndrome", "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease", "Hirschsprung disease-mental retardation syndrome", "MOWS", "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease", "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease", "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease", "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." }, "child_count": 8, "reference_id": "MONDO:0009341" }, { "id": 11557, "label": "developmental and epileptic encephalopathy, 2", "isLeaf": true, "isRoot": false, "parents": [ 16437, 17975, 18257, 23792, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080467", "GARD:0018617", "MEDGEN:1663579", "MESH:C564064", "OMIM:300672", "Orphanet:505652", "UMLS:C4750718" ], "synonyms": [ "CDKL5 early infantile epileptic encephalopathy", "DEE2", "EIEE2", "developmental and epileptic encephalopathy 2, X-linked dominant", "developmental and epileptic encephalopathy, 2", "early infantile epileptic encephalopathy caused by mutation in CDKL5", "epileptic encephalopathy, early infantile, 2", "epileptic encephalopathy, early infantile, type 2", "infantile spasm syndrome, X-linked 2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." }, "child_count": 0, "reference_id": "MONDO:0010396" }, { "id": 11558, "label": "severe neonatal-onset encephalopathy with microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 16437, 19723, 23939, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111932", "GARD:0017103", "MEDGEN:409616", "MESH:C566878", "NCIT:C132293", "OMIM:300673", "Orphanet:209370", "UMLS:C1968556", "icd11.foundation:240602582" ], "synonyms": [ "encephalopathy, neonatal severe, X-linked recessive", "severe congenital encephalopathy due to MECP2 mutation", "severe neonatal encephalopathy due to MECP2 mutations", "encephalopathy, neonatal severe, due to MECP2 mutations" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." }, "child_count": 0, "reference_id": "MONDO:0010397" }, { "id": 12606, "label": "familial infantile myoclonic epilepsy", "isLeaf": true, "isRoot": false, "parents": [ 16437, 24270, 24301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017521", "MEDGEN:181488", "OMIM:605021", "Orphanet:352582", "UMLS:C0917800" ], "synonyms": [ "FIME", "familial infantile myoclonus epilepsy", "myoclonic epilepsy, infantile, familial", "Eim", "myoclonic epilepsy, familial infantile" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0011506" }, { "id": 13442, "label": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "isLeaf": true, "isRoot": false, "parents": [ 11966, 16437, 16607, 19726 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110724", "GARD:0004010", "ICD10CM:G40.3", "MEDGEN:355328", "OMIM:610003", "Orphanet:1947", "Orphanet:530298", "UMLS:C1864923" ], "synonyms": [ "CLN8 disease, Northern epilepsy variant", "EPMR", "NCL, Northern epilepsy variant", "Northern epilepsy", "early onset familial encephalopathy with neuroserpin inclusion bodies", "neuronal ceroid lipofuscinosis, Northern epilepsy variant", "progressive epilepsy with intellectual disability, northern epilepsy", "progressive epilepsy-intellectual disability syndrome, Finnish type", "progressive myoclonic epilepsy with neuroserpin inclusion bodies", "CLN8", "CLN8 disease, EPMR (subtype)", "CLN8 disease, late infantile (subtype)", "ceroid lipofuscinosis neuronal 8", "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant", "epilepsy mental deterioration Finnish type", "epilepsy, progressive, with intellectual disability", "epilepsy, progressive, with mental retardation", "neuronal ceroid lipofuscinosis 8", "progressive epilepsy - intellectual disability, Finnish type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." }, "child_count": 0, "reference_id": "MONDO:0012391" }, { "id": 13658, "label": "polyhydramnios, megalencephaly, and symptomatic epilepsy", "isLeaf": true, "isRoot": false, "parents": [ 16437, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070511", "GARD:0012913", "MEDGEN:370203", "MESH:C567020", "OMIM:611087", "Orphanet:500533", "UMLS:C1970203" ], "synonyms": [ "PMSE syndrome", "polyhydramnios, megalencephaly, and symptomatic epilepsy", "PMSE", "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome", "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome", "pretzel syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3." }, "child_count": 0, "reference_id": "MONDO:0012611" }, { "id": 14802, "label": "neonatal-onset encephalopathy with rigidity and seizures", "isLeaf": true, "isRoot": false, "parents": [ 16437, 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017718", "MEDGEN:482659", "OMIM:614498", "Orphanet:435845", "UMLS:C3281029" ], "synonyms": [ "lethal neonatal rigidity-multifocal seizure syndrome", "lethal neonatal spasticity-epileptic encephalopathy syndrome", "neonatal-onset encephalopathy with rigidity and seizures", "RMFSL", "rigidity and multifocal seizure syndrome, lethal neonatal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. The cause of the disease is a variation in the BRAT1 gene." }, "child_count": 0, "reference_id": "MONDO:0013784" }, { "id": 15373, "label": "developmental and epileptic encephalopathy, 23", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080415", "GARD:0017687", "MEDGEN:862929", "OMIM:615859", "Orphanet:411986", "UMLS:C4014492" ], "synonyms": [ "EIEE23", "developmental and epileptic encephalopathy 23", "developmental and epileptic encephalopathy, 23", "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epileptic encephalopathy, early infantile, 23", "epileptic encephalopathy, early infantile, type 23" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014371" }, { "id": 15753, "label": "spastic paraplegia-severe developmental delay-epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16082, 16087, 16437 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017816", "MEDGEN:897828", "OMIM:616756", "Orphanet:464282", "UMLS:C4225215" ], "synonyms": [ "SPPRS syndrome", "spastic paraplegia-psychomotor retardation-seizures syndrome", "SPPRS", "spastic paraplegia and psychomotor retardation with or without seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." }, "child_count": 0, "reference_id": "MONDO:0014764" }, { "id": 16759, "label": "X-linked intellectual disability-epilepsy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16437, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016584", "MEDGEN:1842841", "Orphanet:2076", "UMLS:C5680771" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0016160" }, { "id": 18275, "label": "focal epilepsy-intellectual disability-cerebro-cerebellar malformation", "isLeaf": true, "isRoot": false, "parents": [ 16437 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021522", "MEDGEN:1640999", "Orphanet:352587", "UMLS:C4707306" ], "synonyms": [ "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed." }, "child_count": 0, "reference_id": "MONDO:0018125" }, { "id": 18410, "label": "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression", "isLeaf": true, "isRoot": false, "parents": [ 16437, 19724 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021619", "MEDGEN:1654958", "Orphanet:391316", "UMLS:C4750853" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." }, "child_count": 0, "reference_id": "MONDO:0018314" }, { "id": 18492, "label": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16133, 16437 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021719", "MEDGEN:1843349", "Orphanet:404481", "UMLS:C5681145" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0018446" }, { "id": 22769, "label": "developmental and epileptic encephalopathy, 73", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112209", "GARD:0017988", "MEDGEN:1681654", "OMIM:618379", "Orphanet:544503", "UMLS:C5193065" ], "synonyms": [ "DEE73", "developmental and epileptic encephalopathy 73", "epileptic encephalopathy, early infantile, 73", "rnf13-related severe early-onset epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0034106" }, { "id": 23310, "label": "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "isLeaf": true, "isRoot": false, "parents": [ 16437, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017930", "MEDGEN:1377894", "OMIM:617393", "Orphanet:500545", "UMLS:C4479333" ], "synonyms": [ "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "NECFM", "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044306" }, { "id": 23322, "label": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 24320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017942", "MEDGEN:1375601", "OMIM:617452", "Orphanet:505237", "UMLS:C4479520" ], "synonyms": [ "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "IDDFSDA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044319" }, { "id": 25510, "label": "epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features", "isLeaf": false, "isRoot": false, "parents": [ 16437, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026729", "OMIMPS:300491" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0859390" }, { "id": 25885, "label": "neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism", "isLeaf": true, "isRoot": false, "parents": [ 16437, 19535, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027314", "OMIM:620719", "Orphanet:589515" ], "synonyms": [ "PUM1-associated developmental disability-ataxia-seizure syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene." }, "child_count": 0, "reference_id": "MONDO:0958231" } ], "roots": [ { "id": 6761, "label": "epilepsy" } ] }