{
    "disease_id": "DOID:0111932",
    "recommended_name": {
        "id": "DOID:0111932",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111932",
        "name": "severe congenital encephalopathy due to MECP2 mutation",
        "description": "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111932",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111932",
            "name": "neonatal severe encephalopathy due to MECP2 mutations",
            "description": ""
        },
        {
            "id": "DOID:0111932",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111932",
            "name": "severe neonatal-onset encephalopathy with microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "severe neonatal-onset encephalopathy with microcephaly",
            "description": "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."
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "encephalopathy, neonatal severe, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "severe congenital encephalopathy due to MECP2 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "severe neonatal encephalopathy due to MECP2 mutations",
            "description": ""
        },
        {
            "id": "MIM:300673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300673",
            "name": "Encephalopathy, neonatal severe, due to MECP2 mutations",
            "description": "Encephalopathy, neonatal severe, due to MECP2 mutations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111932"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111932",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111932",
            "categories": []
        },
        {
            "id": "MONDO:0010397",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "categories": []
        },
        {
            "id": "MIM:300673",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300673",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z2D6-1",
            "uniprot_ac": "Q9Z2D6",
            "uniprot_id": "MECP2_MOUSE",
            "refseq_ac": "NP_001075448",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyl-CpG-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "MeCp-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "MeCp2",
                    "type": "synonym"
                },
                {
                    "name": "meCp-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding protein 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mecp2",
                    "type": "recommended"
                },
                {
                    "name": "1500041B07Rik",
                    "type": "synonym"
                },
                {
                    "name": "D630021H01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mbd5",
                    "type": "synonym"
                },
                {
                    "name": "Mecp2",
                    "type": "synonym"
                },
                {
                    "name": "WBP10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2D6-1",
            "evidence": [
                {
                    "id": "0111932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51608-1",
            "uniprot_ac": "P51608",
            "uniprot_id": "MECP2_HUMAN",
            "refseq_ac": "NP_001104262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyl-CpG-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "MeCp-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "MeCp2",
                    "type": "synonym"
                },
                {
                    "name": "meCp-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MECP2",
                    "type": "recommended"
                },
                {
                    "name": "AUTSX3",
                    "type": "synonym"
                },
                {
                    "name": "MECP2",
                    "type": "synonym"
                },
                {
                    "name": "MRX16",
                    "type": "synonym"
                },
                {
                    "name": "MRX79",
                    "type": "synonym"
                },
                {
                    "name": "MRXS13",
                    "type": "synonym"
                },
                {
                    "name": "MRXSL",
                    "type": "synonym"
                },
                {
                    "name": "PPMX",
                    "type": "synonym"
                },
                {
                    "name": "RS",
                    "type": "synonym"
                },
                {
                    "name": "RTS",
                    "type": "synonym"
                },
                {
                    "name": "RTT",
                    "type": "synonym"
                }
            ],
            "record_id": "P51608-1",
            "evidence": [
                {
                    "id": "300673",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300673"
                },
                {
                    "id": "0111932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00566-1",
            "uniprot_ac": "Q00566",
            "uniprot_id": "MECP2_RAT",
            "refseq_ac": "NP_073164",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methyl-CpG-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "MeCp-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "MeCp2",
                    "type": "synonym"
                },
                {
                    "name": "meCP-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "methyl-CpG-binding protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mecp2",
                    "type": "recommended"
                },
                {
                    "name": "MECP2_e1",
                    "type": "synonym"
                },
                {
                    "name": "Mecp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00566-1",
            "evidence": [
                {
                    "id": "0111932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111932"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111932"
}