{
    "disease_id": "DOID:0060485",
    "recommended_name": {
        "id": "DOID:0060485",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060485",
        "name": "Mowat-Wilson syndrome",
        "description": "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060485",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060485",
            "name": "Hirschsprung disease mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060485",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060485",
            "name": "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Mowat-Wilson syndrome",
            "description": "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."
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Hirschsprung disease intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Hirschsprung disease-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Mowat-Wilson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "Hirschsprung disease-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "MOWS",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MONDO:0009341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "name": "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease",
            "description": ""
        },
        {
            "id": "MIM:235730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/235730",
            "name": "Mowat-Wilson syndrome",
            "description": "Mowat-Wilson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060485"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060485",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060485",
            "categories": []
        },
        {
            "id": "MONDO:0009341",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009341",
            "categories": []
        },
        {
            "id": "MIM:235730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/235730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GCP6-1",
            "uniprot_ac": "A0AC58GCP6",
            "uniprot_id": "A0AC58GCP6_DANRE",
            "refseq_ac": "XP_073767511",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 2a isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger E-box-binding homeobox 2a isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zeb2a",
                    "type": "recommended"
                },
                {
                    "name": "sb:eu412",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-52o2.2",
                    "type": "synonym"
                },
                {
                    "name": "sip1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc92g08",
                    "type": "synonym"
                },
                {
                    "name": "zeb2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GCP6-1",
            "evidence": [
                {
                    "id": "0060485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0G7-1",
            "uniprot_ac": "Q9R0G7",
            "uniprot_id": "ZEB2_MOUSE",
            "refseq_ac": "NP_001276450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Smad-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeobox protein 1b",
                    "type": "synonym"
                },
                {
                    "name": "smad-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger E-box-binding homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zeb2",
                    "type": "recommended"
                },
                {
                    "name": "9130203F04Rik",
                    "type": "synonym"
                },
                {
                    "name": "D130016B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "SIP1",
                    "type": "synonym"
                },
                {
                    "name": "Sip1",
                    "type": "synonym"
                },
                {
                    "name": "Zeb2",
                    "type": "synonym"
                },
                {
                    "name": "Zfhx1b",
                    "type": "synonym"
                },
                {
                    "name": "Zfx1b",
                    "type": "synonym"
                },
                {
                    "name": "Zfxh1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0G7-1",
            "evidence": [
                {
                    "id": "0060485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60315-1",
            "uniprot_ac": "O60315",
            "uniprot_id": "ZEB2_HUMAN",
            "refseq_ac": "NP_001165124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "SMAD interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SMADIP1",
                    "type": "synonym"
                },
                {
                    "name": "Smad-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeobox protein 1b",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger E-box-binding homeobox 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZEB2",
                    "type": "recommended"
                },
                {
                    "name": "HRIHFB2411",
                    "type": "synonym"
                },
                {
                    "name": "HSPC082",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0569",
                    "type": "synonym"
                },
                {
                    "name": "SIP-1",
                    "type": "synonym"
                },
                {
                    "name": "SIP1",
                    "type": "synonym"
                },
                {
                    "name": "SMADIP1",
                    "type": "synonym"
                },
                {
                    "name": "ZEB2",
                    "type": "synonym"
                },
                {
                    "name": "ZFHX1B",
                    "type": "synonym"
                },
                {
                    "name": "ZFX1B",
                    "type": "synonym"
                }
            ],
            "record_id": "O60315-1",
            "evidence": [
                {
                    "id": "235730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/235730"
                },
                {
                    "id": "0060485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5YC43-1",
            "uniprot_ac": "A0A8I5YC43",
            "uniprot_id": "A0A8I5YC43_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger E-box-binding homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Smad-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeobox protein 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zeb2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5YC43-1",
            "evidence": [
                {
                    "id": "0060485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28166-1",
            "uniprot_ac": "P28166",
            "uniprot_id": "ZFH1_DROME",
            "refseq_ac": "NP_476850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG1322-PB",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc-finger homeodomain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zn finger homeodomain 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Zn homeodomain 1",
                    "type": "synonym"
                },
                {
                    "name": "zfh1-PB",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain protein-1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain-1",
                    "type": "synonym"
                },
                {
                    "name": "zinc-finger homeobox gene",
                    "type": "synonym"
                },
                {
                    "name": "zinc-finger homeodomain1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zfh1",
                    "type": "recommended"
                },
                {
                    "name": "CG1322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1322",
                    "type": "synonym"
                },
                {
                    "name": "ZFH-1",
                    "type": "synonym"
                },
                {
                    "name": "ZFH1",
                    "type": "synonym"
                },
                {
                    "name": "ZFh1",
                    "type": "synonym"
                },
                {
                    "name": "Zfh-1",
                    "type": "synonym"
                },
                {
                    "name": "Zfh1a",
                    "type": "synonym"
                },
                {
                    "name": "Zfh1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)00865",
                    "type": "synonym"
                },
                {
                    "name": "zfh-1",
                    "type": "synonym"
                },
                {
                    "name": "zfh1",
                    "type": "synonym"
                },
                {
                    "name": "zfl-1",
                    "type": "synonym"
                },
                {
                    "name": "zhf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28166-1",
            "evidence": [
                {
                    "id": "0060485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060485"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060485"
}