{ "id": 23814, "label": "genetic developmental and epileptic encephalopathy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100062", "properties": { "xrefs": [ "DOID:0112202", "GARD:0009255", "ICD9:345.10", "NANDO:1200593", "NCIT:C122814", "OMIMPS:308350" ], "synonyms": [ "developmental and epileptic encephalopathy", "hereditary developmental and epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." }, "isLeaf": false, "isRoot": false, "child_count": 105, "parents": [ { "id": 24226, "label": "Mendelian neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 24270, 24488 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 550, "reference_id": "MONDO:0100500" }, { "id": 24340, "label": "developmental and epileptic encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 6761, 23791 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027373", "MEDGEN:1830477", "UMLS:C5779964" ], "synonyms": [ "DEE", "developmental and epileptic encephalopathy", "infantile spasm" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both." }, "child_count": 6, "reference_id": "MONDO:0100620" } ], "children": [ { "id": 11422, "label": "developmental and epileptic encephalopathy, 9", "isLeaf": true, "isRoot": false, "parents": [ 16759, 23814, 23890 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060848", "GARD:0010806", "MEDGEN:338393", "MESH:C564715", "NANDO:1200599", "OMIM:300088", "Orphanet:101039", "UMLS:C1848137" ], "synonyms": [ "DEE9", "EFMR", "EIEE9", "Juberg-Hellman syndrome", "PCDH19 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 9", "developmental and epileptic encephalopathy, 9", "early infantile epileptic encephalopathy caused by mutation in PCDH19", "early infantile epileptic encephalopathy type 9", "epileptic encephalopathy, early infantile, 9", "epileptic encephalopathy, early infantile, type 9", "familial epilepsy and intellectual disability limited to females", "familial epilepsy and mental retardation limited to females", "female restricted epilepsy with intellectual disability", "PCDH19-related FLE", "PCDH19-related female-limited epilepsy", "PCDH19-related infantile epileptic encephalopathy", "epilepsy and intellectual disability limited to females", "epilepsy and mental retardation limited to females", "epilepsy, female restricted, with intellectual disability", "epilepsy, female restricted, with mental retardation", "epilepsy, female-restricted, with intellectual disability", "epilepsy, female-restricted, with mental retardation", "female restricted epilepsy with intellectual deficit" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." }, "child_count": 0, "reference_id": "MONDO:0010246" }, { "id": 11539, "label": "developmental and epileptic encephalopathy, 8", "isLeaf": true, "isRoot": false, "parents": [ 16759, 20273, 23814, 23890 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080215", "GARD:0017010", "MEDGEN:375581", "MESH:C564474", "OMIM:300607", "Orphanet:163985", "UMLS:C1845102" ], "synonyms": [ "DEE8", "EIEE8", "developmental and epileptic encephalopathy 8", "epileptic encephalopathy, early infantile, 8", "epileptic encephalopathy, early infantile, type 8", "hyperekplexia-epilepsy syndrome", "hyperekplexia and epilepsy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010375" }, { "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": 11625, "label": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16198, 16607, 17977, 23814, 23985 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080139", "GARD:0012777", "MEDGEN:477139", "OMIM:300868", "Orphanet:300496", "UMLS:C3275508" ], "synonyms": [ "DEE20", "GPIBD4", "MCAHS type 2", "MCAHS2", "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "developmental and epileptic encephalopathy 20", "epileptic encephalopathy, early infantile, 20", "glycosylphosphatidylinositol biosynthesis defect 4", "multiple congenital anomalies-hypotonia-seizures syndrome 2", "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive", "multiple congenital anomalies-hypotonia-seizures syndrome type 2", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." }, "child_count": 0, "reference_id": "MONDO:0010466" }, { "id": 11630, "label": "developmental and epileptic encephalopathy, 36", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7156, 17973, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080470", "GARD:0012401", "MEDGEN:1382656", "OMIM:300884", "Orphanet:324422", "SCTID:733451007", "UMLS:C4317295" ], "synonyms": [ "ALG13-CDG", "CDG syndrome type Is", "CDG-Is", "CDG1S", "DEE36", "EIEE36", "congenital disorder of glycosylation type 1s", "congenital disorder of glycosylation type Is", "developmental and epileptic encephalopathy 36", "epileptic encephalopathy, early infantile, 36", "CDG Is", "congenital disorder of glycosylation, type Is" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010472" }, { "id": 11778, "label": "developmental and epileptic encephalopathy, 1", "isLeaf": true, "isRoot": false, "parents": [ 18257, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080468", "GARD:0015298", "MEDGEN:483052", "OMIM:308350", "UMLS:C3463992" ], "synonyms": [ "ARX early infantile epileptic encephalopathy", "DEE1", "EIEE1", "developmental and epileptic encephalopathy 1, X-linked recessive", "early infantile epileptic encephalopathy caused by mutation in ARX", "early infantile epileptic encephalopathy caused by mutation in arx", "epileptic encephalopathy, early infantile, 1", "epileptic encephalopathy, early infantile, type 1", "Ohtahara syndrome, X-linked", "West syndrome, X-linked", "XMESID", "infantile epileptic-dyskinetic encephalopathy", "infantile spasm syndrome, X-linked 1" ], "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 ARX gene." }, "child_count": 0, "reference_id": "MONDO:0010632" }, { "id": 13304, "label": "developmental and epileptic encephalopathy, 3", "isLeaf": true, "isRoot": false, "parents": [ 23814, 25075 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080440", "GARD:0015456", "MEDGEN:1801135", "OMIM:609304", "UMLS:C5574665" ], "synonyms": [ "DEE3", "EIEE3", "SLC25A22 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 3", "early infantile epileptic encephalopathy caused by mutation in SLC25A22", "epileptic encephalopathy, early infantile, 3", "epileptic encephalopathy, early infantile, type 3" ], "categories": [ { "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 SLC25A22 gene." }, "child_count": 0, "reference_id": "MONDO:0012245" }, { "id": 13852, "label": "developmental and epileptic encephalopathy, 4", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080436", "GARD:0012900", "MEDGEN:436917", "MESH:C567404", "NCIT:C162472", "OMIM:612164", "Orphanet:599373", "SCTID:768666006", "UMLS:C2677326" ], "synonyms": [ "DEE4", "EIEE4", "STXBP1 early infantile epileptic encephalopathy", "STXBP1-related encephalopathy", "developmental and epileptic encephalopathy 4", "developmental and epileptic encephalopathy, 4", "early infantile epileptic encephalopathy 4", "early infantile epileptic encephalopathy caused by mutation in STXBP1", "epileptic encephalopathy, early infantile, 4", "epileptic encephalopathy, early infantile, type 4", "STXBP1-related early-onset encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." }, "child_count": 0, "reference_id": "MONDO:0012812" }, { "id": 14290, "label": "microcephaly, seizures, and developmental delay", "isLeaf": true, "isRoot": false, "parents": [ 3394, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080457", "GARD:0010933", "MEDGEN:462017", "OMIM:613402", "Orphanet:228418", "UMLS:C3150667" ], "synonyms": [ "microcephaly, seizures, and developmental delay", "EIEE10", "MCSZ", "early infantile epileptic encephalopathy-10", "epileptic encephalopathy, early infantile, 10", "microcephaly - seizures - developmental delay" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13." }, "child_count": 0, "reference_id": "MONDO:0013254" }, { "id": 14312, "label": "developmental and epileptic encephalopathy, 5", "isLeaf": true, "isRoot": false, "parents": [ 18257, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080438", "GARD:0012949", "MEDGEN:462081", "OMIM:613477", "UMLS:C3150731" ], "synonyms": [ "DEE5", "EIEE5", "SPTAN1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 5", "early infantile epileptic encephalopathy caused by mutation in SPTAN1", "epileptic encephalopathy, early infantile, 5", "epileptic encephalopathy, early infantile, type 5" ], "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 SPTAN1 gene." }, "child_count": 0, "reference_id": "MONDO:0013277" }, { "id": 14420, "label": "developmental and epileptic encephalopathy, 7", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080462", "GARD:0013060", "MEDGEN:462336", "OMIM:613720", "Orphanet:439218", "UMLS:C3150986" ], "synonyms": [ "DEE7", "EIEE7", "KCNQ2-NEE", "developmental and epileptic encephalopathy 7", "epileptic encephalopathy, early infantile, 7", "epileptic encephalopathy, early infantile, type 7", "KCNQ2-related disorders" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0013387" }, { "id": 14421, "label": "developmental and epileptic encephalopathy, 11", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080421", "GARD:0015699", "MEDGEN:462337", "OMIM:613721", "UMLS:C3150987" ], "synonyms": [ "DEE11", "EIEE11", "SCN2A early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 11", "early infantile epileptic encephalopathy caused by mutation in SCN2A", "epileptic encephalopathy, early infantile, 11", "epileptic encephalopathy, early infantile, type 11" ], "categories": [ { "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 SCN2A gene." }, "child_count": 0, "reference_id": "MONDO:0013388" }, { "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": 14999, "label": "developmental and epileptic encephalopathy, 14", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080439", "GARD:0015886", "MEDGEN:767109", "OMIM:614959", "UMLS:C3554195" ], "synonyms": [ "KCNT1-related epilepsy", "DEE14", "EIEE14", "KCNT1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 14", "early infantile epileptic encephalopathy caused by mutation in KCNT1", "epileptic encephalopathy, early infantile, 14", "epileptic encephalopathy, early infantile, type 14" ], "categories": [ { "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 KCNT1 gene." }, "child_count": 0, "reference_id": "MONDO:0013989" }, { "id": 15013, "label": "developmental and epileptic encephalopathy, 15", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18257, 23814, 26279 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080414", "GARD:0015892", "MEDGEN:767230", "OMIM:615006", "UMLS:C3554316" ], "synonyms": [ "DEE15", "EIEE15", "developmental and epileptic encephalopathy 15", "epileptic encephalopathy, early infantile, 15", "epileptic encephalopathy, early infantile, type 15" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014003" }, { "id": 15205, "label": "developmental and epileptic encephalopathy, 17", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080450", "GARD:0013378", "MEDGEN:815936", "OMIM:615473", "UMLS:C3809606" ], "synonyms": [ "DEE17", "EIEE17", "GNAO1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 17", "early infantile epileptic encephalopathy caused by mutation in GNAO1", "early infantile epileptic encephalopathy-17", "epileptic encephalopathy, early infantile, 17", "epileptic encephalopathy, early infantile, type 17", "GNAO1 encephalopathy" ], "categories": [ { "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 GNAO1 gene." }, "child_count": 0, "reference_id": "MONDO:0014199" }, { "id": 15207, "label": "developmental and epileptic encephalopathy, 18", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080413", "GARD:0013676", "MEDGEN:815954", "OMIM:615476", "Orphanet:369894", "UMLS:C3809624" ], "synonyms": [ "DEE18", "EIEE18", "developmental and epileptic encephalopathy 18", "early infantile epileptic encephalopathy without suppression burst", "epileptic encephalopathy, early infantile, 18", "epileptic encephalopathy, early infantile, type 18" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014201" }, { "id": 15331, "label": "developmental and epileptic encephalopathy, 19", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080431", "GARD:0016008", "MEDGEN:816730", "NCIT:C142802", "OMIM:615744", "UMLS:C3810400" ], "synonyms": [ "DEE19", "EIEE19", "Early Infantile epileptic encephalopathy 19", "GABRA1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 19", "early infantile epileptic encephalopathy caused by mutation in GABRA1", "epileptic encephalopathy, early infantile, 19", "epileptic encephalopathy, early infantile, type 19" ], "categories": [ { "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 GABRA1 gene." }, "child_count": 0, "reference_id": "MONDO:0014328" }, { "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": 15504, "label": "developmental and epileptic encephalopathy, 27", "isLeaf": true, "isRoot": false, "parents": [ 18257, 23814, 24724 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080444", "GARD:0016063", "MEDGEN:863753", "OMIM:616139", "UMLS:C4015316" ], "synonyms": [ "DEE27", "EIEE27", "GRIN2B early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 27", "early infantile epileptic encephalopathy caused by mutation in GRIN2B", "epileptic encephalopathy, early infantile, 27", "epileptic encephalopathy, early infantile, type 27" ], "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 GRIN2B gene." }, "child_count": 0, "reference_id": "MONDO:0014505" }, { "id": 15593, "label": "developmental and epileptic encephalopathy, 30", "isLeaf": true, "isRoot": false, "parents": [ 18257, 23814, 25075 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080465", "GARD:0016093", "MEDGEN:898954", "OMIM:616341", "UMLS:C4225360" ], "synonyms": [ "DEE30", "EIEE30", "SIK1 early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 30", "early infantile epileptic encephalopathy caused by mutation in SIK1", "epileptic encephalopathy, early infantile, 30", "epileptic encephalopathy, early infantile, type 30" ], "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 SIK1 gene." }, "child_count": 0, "reference_id": "MONDO:0014595" }, { "id": 15643, "label": "developmental and epileptic encephalopathy, 50", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7156, 17978, 19102, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080419", "GARD:0013621", "MEDGEN:904125", "OMIM:616457", "Orphanet:448010", "UMLS:C4225320" ], "synonyms": [ "CAD-CDG", "CDG syndrome type Iz", "CDG-Iz", "CDG1Z", "DEE50", "EIEE50", "carbohydrate deficient glycoprotein syndrome type Iz", "congenital disorder of glycosylation type 1z", "developmental and epileptic encephalopathy 50", "epileptic encephalopathy, early infantile, 50", "congenital disorder of glycosylation, type Iz", "congenital disorder of glycosylation, type Iz, formerly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014647" }, { "id": 15712, "label": "developmental and epileptic encephalopathy, 35", "isLeaf": true, "isRoot": false, "parents": [ 19100, 21292, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080458", "GARD:0017806", "MEDGEN:904159", "OMIM:616647", "Orphanet:457375", "UMLS:C4225256" ], "synonyms": [ "DEE35", "EIEE35", "developmental and epileptic encephalopathy 35", "epileptic encephalopathy, early infantile, 35", "epileptic encephalopathy, early infantile, type 35" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014719" }, { "id": 15841, "label": "developmental and epileptic encephalopathy, 37", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080435", "GARD:0025027", "MEDGEN:934737", "OMIM:616981", "UMLS:C4310770" ], "synonyms": [ "DEE37", "EIEE37", "FRRS1L early infantile epileptic encephalopathy", "developmental and epileptic encephalopathy 37", "early infantile epileptic encephalopathy caused by mutation in FRRS1L", "epileptic encephalopathy, early infantile, 37", "epileptic encephalopathy, early infantile, 37; EIEE37", "epileptic encephalopathy, early infantile, type 37" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a 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"OMIM:618557", "UMLS:C5231409" ], "synonyms": [ "DEE78", "EIEE78", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78", "developmental and epileptic encephalopathy 78", "epileptic encephalopathy, early infantile, 78" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032812" }, { "id": 22470, "label": "developmental and epileptic encephalopathy, 79", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112215", "GARD:0016366", "MEDGEN:1684738", "OMIM:618559", "UMLS:C5231410" ], "synonyms": [ "DEE79", "EIEE79", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79", "developmental and epileptic encephalopathy 79", "epileptic encephalopathy, early infantile, 79" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032813" }, { "id": 22479, "label": "developmental and epileptic encephalopathy, 80", "isLeaf": true, "isRoot": false, "parents": [ 4594, 21353, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112216", "GARD:0025754", "MEDGEN:1684779", "OMIM:618580", "UMLS:C5231418" ], "synonyms": [ "DEE80", "EIEE80", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80", "developmental and epileptic encephalopathy 80", "epileptic encephalopathy, early infantile, 80", "Glycosylphosphatidylinositol Biosynthesis Defect 20" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032822" }, { "id": 22511, "label": "developmental and epileptic encephalopathy, 81", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112217", "GARD:0025760", "MEDGEN:1684681", "OMIM:618663", "UMLS:C5231450" ], "synonyms": [ "DEE81", "EIEE81", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81", "developmental and epileptic encephalopathy 81", "epileptic encephalopathy, early infantile, 81" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032858" }, { "id": 22532, "label": "developmental and epileptic encephalopathy, 82", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080715", "GARD:0025765", "MEDGEN:1684694", "OMIM:618721", "UMLS:C5231473" ], "synonyms": [ "DEE82", "EIEE82", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82", "developmental and epileptic encephalopathy 82", "epileptic encephalopathy, early infantile, 82", "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of", "Got2 Deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032880" }, { "id": 22547, "label": "developmental and epileptic encephalopathy, 83", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112218", "GARD:0025767", "MEDGEN:1684784", "OMIM:618744", "UMLS:C5231487" ], "synonyms": [ "DEE83", "EIEE83", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83", "developmental and epileptic encephalopathy 83", "epileptic encephalopathy, early infantile, 83", "Barakat-Perenthaler Syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032895" }, { "id": 22570, "label": "developmental and epileptic encephalopathy, 84", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112219", "GARD:0025774", "MEDGEN:1720141", "NORD:102487", "OMIM:618792", "UMLS:C5394081" ], "synonyms": [ "DEE84", "EIEE84", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84", "UGDH-Related Disorder", "developmental and epileptic encephalopathy 84", "epileptic encephalopathy, early infantile, 84", "Jamuar Syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032918" }, { "id": 22642, "label": "developmental and epileptic encephalopathy, 52", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080455", "GARD:0016223", "MEDGEN:1376462", "OMIM:617350", "UMLS:C4479236" ], "synonyms": [ "DEE52", "EIEE52", "developmental and epileptic encephalopathy 52", "epileptic encephalopathy, early infantile, 52" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033361" }, { "id": 22643, "label": "developmental and epileptic encephalopathy, 53", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080464", "GARD:0016224", "MEDGEN:1374886", "OMIM:617389", "UMLS:C4479313" ], "synonyms": [ "DEE53", "EIEE53", "developmental and epileptic encephalopathy 53", "epileptic encephalopathy, early infantile, 53" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033362" }, { "id": 22644, "label": "developmental and epileptic encephalopathy, 54", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080418", "GARD:0016225", "MEDGEN:1392637", "NORD:146101", "OMIM:617391", "UMLS:C4479319" ], "synonyms": [ "DEE54", "EIEE54", "HNRNPU-Related Disorder", "developmental and epileptic encephalopathy 54", "epileptic encephalopathy, early infantile, 54" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033363" }, { "id": 22645, "label": "developmental and epileptic encephalopathy, 55", "isLeaf": true, "isRoot": false, "parents": [ 4594, 21353, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080283", "GARD:0016241", "MEDGEN:1622363", "OMIM:617599", "UMLS:C4539843" ], "synonyms": [ "DEE55", "EIEE55", "developmental and epileptic encephalopathy 55", "epileptic encephalopathy, early infantile, 55", "glycosylphosphatidylinositol biosynthesis defect 14", "infantile epileptic encephalopathy 55" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22." }, "child_count": 0, "reference_id": "MONDO:0033364" }, { "id": 22646, "label": "developmental and epileptic encephalopathy, 56", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080282", "GARD:0025795", "MEDGEN:1621755", "OMIM:617665", "UMLS:C4540034" ], "synonyms": [ "DEE56", "EIEE56", "developmental and epileptic encephalopathy 56", "epileptic 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"OMIM:617830", "UMLS:C4693367" ], "synonyms": [ "DEE58", "EIEE58", "developmental and epileptic encephalopathy 58", "epileptic encephalopathy, early infantile, 58", "infantile epileptic encephalopathy 58" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033367" }, { "id": 22649, "label": "developmental and epileptic encephalopathy, 59", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080291", "GARD:0025797", "MEDGEN:1633749", "OMIM:617904", "UMLS:C4693550" ], "synonyms": [ "DEE59", "EIEE59", "developmental and epileptic encephalopathy 59", "epileptic encephalopathy, early infantile, 59", "infantile epileptic encephalopathy 59" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033368" }, { "id": 22650, "label": "developmental and epileptic encephalopathy, 60", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080432", "GARD:0016270", "MEDGEN:1638894", "OMIM:617929", "UMLS:C4693663" ], "synonyms": [ "DEE60", "EIEE60", "developmental and epileptic encephalopathy 60", "epileptic encephalopathy, early infantile, 60" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033369" }, { "id": 22651, "label": "developmental and epileptic encephalopathy, 61", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080434", "GARD:0025798", "MEDGEN:1639392", "OMIM:617933", "UMLS:C4693688" ], "synonyms": [ "DEE61", "EIEE61", "developmental and epileptic encephalopathy 61", "epileptic encephalopathy, early infantile, 61" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033370" }, { "id": 22652, "label": "developmental and epileptic encephalopathy, 62", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080420", "GARD:0016271", "MEDGEN:1631233", "OMIM:617938", "UMLS:C4693699" ], "synonyms": [ "DEE62", "EIEE62", "developmental and epileptic encephalopathy 62", "epileptic encephalopathy, early infantile, 62" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033371" }, { "id": 22653, "label": "developmental and epileptic encephalopathy, 63", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080426", "GARD:0025799", "MEDGEN:1646846", "OMIM:617976", "UMLS:C4693810" ], "synonyms": [ "DEE63", "EIEE63", "developmental and epileptic encephalopathy 63", "epileptic encephalopathy, early infantile, 63" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033372" }, { "id": 22654, "label": "developmental and epileptic encephalopathy, 64", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070375", "GARD:0013681", "MEDGEN:1633501", "OMIM:618004", "UMLS:C4693899" ], "synonyms": [ "RHOBTB2-related disorders", "DEE64", "EIEE64", "RHOBTB2 syndrome", "RHOBTB2-associated neurodevelopmental disorders", "developmental and epileptic encephalopathy 64", "epileptic encephalopathy, early infantile, 64" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033373" }, { "id": 22655, "label": "developmental and epileptic encephalopathy, 65", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080430", "GARD:0016283", "MEDGEN:1634676", "OMIM:618008", "UMLS:C4693925" ], "synonyms": [ "DEE65", "EIEE65", "developmental and epileptic encephalopathy 65", "epileptic encephalopathy, early infantile, 65" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033374" }, { "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": 23644, "label": "developmental and epileptic encephalopathy, 66", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080446", "GARD:0025985", "MEDGEN:1648486", "OMIM:618067", "UMLS:C4748070" ], "synonyms": [ "DEE66", "EIEE66", "developmental and epileptic encephalopathy 66", "epileptic encephalopathy, early infantile, 66" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0054845" }, { "id": 23831, "label": "developmental and epileptic encephalopathy, 6A", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026036", "OMIM:607208" ], "synonyms": [ "DEE6A", "EIEE6", "developmental and epileptic encephalopathy, 6A", "epileptic encephalopathy, early infantile, 6", "Dravet syndrome" ], "categories": [ { "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 SCN1A gene." }, "child_count": 0, "reference_id": "MONDO:0100079" }, { "id": 23857, "label": "non-neonatal early infantile epileptic encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." }, "child_count": 0, "reference_id": "MONDO:0100107" }, { "id": 23884, "label": "Dravet syndrome", "isLeaf": true, "isRoot": false, "parents": [ 23814, 25074 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060171", "DOID:0080422", "GARD:0010430", "ICD10CM:G40.83", "ICD9:345.10", "MEDGEN:148243", "NANDO:1200587", "NANDO:2200877", "NCIT:C116573", "NORD:1061", "SCTID:230437002", "UMLS:C0751122", "icd11.foundation:1255654700" ], "synonyms": [ "DS", "Dravet", "Dravet syndrome", "SME", "SMEB", "myoclonic epilepsy, severe, of infancy", "severe myoclonic epilepsy of infancy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." }, "child_count": 0, "reference_id": "MONDO:0100135" }, { "id": 24182, "label": "neonatal-onset developmental and epileptic encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026229" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur." }, "child_count": 20, "reference_id": "MONDO:0100455" }, { "id": 24264, "label": "hemiplegic migraine-developmental and epileptic encephalopathy spectrum", "isLeaf": true, "isRoot": false, "parents": [ 3089, 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026271" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families." }, "child_count": 0, "reference_id": "MONDO:0100539" }, { "id": 24713, "label": "DNM1-encephalopathy and neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027295" ], "synonyms": [ "DNM1-related DEE", "DNM1-related developmental and epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental and epileptic encephalopathy in which the cause of the disease is a variation in the DNM1 gene." }, "child_count": 2, "reference_id": "MONDO:0700339" }, { "id": 25087, "label": "TMEM63B-related developmental and epileptic encephalopathy with anemia", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027306" ], "synonyms": [ "TMEM63B-related DEE with anaemia", "TMEM63B-related DEE with anemia", "TMEM63B-related developmental and epileptic encephalopathy with anaemia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities." }, "child_count": 0, "reference_id": "MONDO:0800503" }, { "id": 25448, "label": "developmental and epileptic encephalopathy 108", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070394", "GARD:0026692", "MEDGEN:1824026", "OMIM:620115", "UMLS:C5774253" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859314" }, { "id": 25458, "label": "developmental and epileptic encephalopathy 109", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070378", "GARD:0026699", "MEDGEN:1824036", "OMIM:620145", "UMLS:C5774263" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859325" }, { "id": 25459, "label": "developmental and epileptic encephalopathy 110", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070395", "GARD:0026700", "MEDGEN:1824038", "OMIM:620149", "UMLS:C5774265" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859327" }, { "id": 25738, "label": "developmental and epileptic encephalopathy 111", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026871", "MEDGEN:1846991", "OMIM:620504", "UMLS:C5882690" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957780" }, { "id": 25750, "label": "developmental and epileptic encephalopathy 112", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026877", "MEDGEN:1845523", "OMIM:620537", "UMLS:C5882700" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957812" }, { "id": 25933, "label": "developmental and epileptic encephalopathy 113", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027010", "MEDGEN:1859161", "OMIM:620772", "UMLS:C5935597" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958330" }, { "id": 25934, "label": "developmental and epileptic encephalopathy 114", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027011", "MEDGEN:1860189", "OMIM:620774", "UMLS:C5935598" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958331" }, { "id": 25957, "label": "developmental and epileptic encephalopathy 115", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027033", "MEDGEN:1858870", "OMIM:620783", "UMLS:C5935604" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0968946" }, { "id": 25980, "label": "developmental and epileptic encephalopathy 116", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070545", "GARD:0027088", "MEDGEN:1857742", "OMIM:620806", "UMLS:C5935615" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0970945" }, { "id": 26247, "label": "developmental and epileptic encephalopathy 118", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061176", "GARD:0028112", "MEDGEN:1876501", "OMIM:621250", "UMLS:C6012741" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979238" }, { "id": 26389, "label": "developmental and epileptic encephalopathy 120", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621468" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980948" }, { "id": 26394, "label": "developmental and epileptic encephalopathy 121", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621475" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980966" }, { "id": 29339, "label": "developmental and epileptic encephalopathy 119", "isLeaf": true, "isRoot": false, "parents": [ 23814 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028178", "OMIM:621304" ], "synonyms": [ "DEE119", "RNU2-2 developmental and epileptic encephalopathy", "RNU2-2 syndrome", "developmental and epileptic encephalopathy 119" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures." }, "child_count": 0, "reference_id": "MONDO:1060177" } ], "roots": [ { "id": 24226, "label": "Mendelian neurodevelopmental disorder" }, { "id": 24340, "label": "developmental and epileptic encephalopathy" } ] }