{
    "disease_id": "DOID:0060848",
    "recommended_name": {
        "id": "DOID:0060848",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060848",
        "name": "developmental and epileptic encephalopathy 9",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22."
    },
    "synonyms": [
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "name": "early infantile female-limited epilecptic encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "name": "EFMR",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "name": "EIEE9",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "name": "Juberg Hellman syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "name": "female restricted epilepsy with mental retardation",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "name": "DEE9",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "name": "early infantile epileptic encephalopathy 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "developmental and epileptic encephalopathy, 9",
            "description": "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."
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "DEE9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "EFMR",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "EIEE9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "Juberg-Hellman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "developmental and epileptic encephalopathy 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "developmental and epileptic encephalopathy, 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "early infantile epileptic encephalopathy caused by mutation in PCDH19",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "early infantile epileptic encephalopathy type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epileptic encephalopathy, early infantile, 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epileptic encephalopathy, early infantile, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "familial epilepsy and intellectual disability limited to females",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "familial epilepsy and mental retardation limited to females",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "female restricted epilepsy with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19-related FLE",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19-related female-limited epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19-related infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy and intellectual disability limited to females",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy and mental retardation limited to females",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy, female restricted, with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy, female restricted, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy, female-restricted, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "female restricted epilepsy with intellectual deficit",
            "description": ""
        },
        {
            "id": "MIM:300088",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300088",
            "name": "Developmental and epileptic encephalopathy 9",
            "description": "Developmental and epileptic encephalopathy 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060848"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060848",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060848",
            "categories": []
        },
        {
            "id": "MONDO:0010246",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "categories": []
        },
        {
            "id": "MIM:300088",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300088",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W3X3-1",
            "uniprot_ac": "F8W3X3",
            "uniprot_id": "PCD19_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-19",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "pcdh19",
                    "type": "recommended"
                },
                {
                    "name": "fc83e05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc83e05",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W3X3-1",
            "evidence": [
                {
                    "id": "0060848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80TF3-1",
            "uniprot_ac": "Q80TF3",
            "uniprot_id": "PCD19_MOUSE",
            "refseq_ac": "NP_001098715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-19",
                    "type": "recommended"
                },
                {
                    "name": "protocadherin-19 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcdh19",
                    "type": "recommended"
                },
                {
                    "name": "B530002L05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm717",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1313",
                    "type": "synonym"
                },
                {
                    "name": "Pcdh19",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1313",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80TF3-1",
            "evidence": [
                {
                    "id": "0060848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TAB3-1",
            "uniprot_ac": "Q8TAB3",
            "uniprot_id": "PCD19_HUMAN",
            "refseq_ac": "NP_001098713",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-19",
                    "type": "recommended"
                },
                {
                    "name": "protocadherin-19 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCDH19",
                    "type": "recommended"
                },
                {
                    "name": "DEE9",
                    "type": "synonym"
                },
                {
                    "name": "EFMR",
                    "type": "synonym"
                },
                {
                    "name": "EIEE9",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1313",
                    "type": "synonym"
                },
                {
                    "name": "PCDH19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TAB3-1",
            "evidence": [
                {
                    "id": "300088",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300088"
                },
                {
                    "id": "0060848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060848"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZG18-1",
            "uniprot_ac": "D3ZG18",
            "uniprot_id": "D3ZG18_RAT",
            "refseq_ac": "NP_001162600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-19",
                    "type": "recommended"
                },
                {
                    "name": "protocadherin-19 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcdh19",
                    "type": "recommended"
                },
                {
                    "name": "Pcdh19",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565392",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZG18-1",
            "evidence": [
                {
                    "id": "0060848",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060848"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060848"
}