{
    "disease_id": "DOID:0060488",
    "recommended_name": {
        "id": "DOID:0060488",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060488",
        "name": "Pitt-Hopkins syndrome",
        "description": "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "Pitt-Hopkins syndrome",
            "description": "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing."
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "Pitt-Hopkins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "PTHS",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "Pitt Hopkins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea",
            "description": ""
        },
        {
            "id": "MONDO:0012589",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "name": "mental retardation, Syndromal, with intermittent hyperventilation",
            "description": ""
        },
        {
            "id": "MIM:610954",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610954",
            "name": "Pitt-Hopkins syndrome",
            "description": "Pitt-Hopkins syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060488"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060488",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060488",
            "categories": []
        },
        {
            "id": "MONDO:0012589",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012589",
            "categories": []
        },
        {
            "id": "MIM:610954",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610954",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A0R4IBL7",
            "uniprot_id": "HTF4_DANRE",
            "refseq_ac": "NP_999981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Transcription factor 12",
                    "type": "recommended"
                },
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                    "name": "TCF-12",
                    "type": "synonym"
                },
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                    "name": "TF12",
                    "type": "synonym"
                },
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                    "name": "transcription factor 12",
                    "type": "synonym"
                }
            ],
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                    "name": "tcf12",
                    "type": "recommended"
                },
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                    "name": "SO:0001217",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                },
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                    "name": "wu:fb74g05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc43e06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110341",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85956",
                    "type": "synonym"
                }
            ],
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                    "id": "0060488",
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                }
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        },
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                }
            ],
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                    "type": "recommended"
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                    "name": "MITF-2",
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                },
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                    "type": "synonym"
                },
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                    "name": "SEF-2",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "SEF2",
                    "type": "synonym"
                },
                {
                    "name": "Sef2",
                    "type": "synonym"
                },
                {
                    "name": "TFE",
                    "type": "synonym"
                },
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                },
                {
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                    "type": "synonym"
                },
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                    "name": "bHLHb19",
                    "type": "synonym"
                }
            ],
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                    "id": "0060488",
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                }
            ]
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            "uniprot_ac": "Q61286",
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                }
            ],
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                },
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                    "name": "A130037E08Rik",
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                    "name": "Alf1",
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                {
                    "name": "HEBAlt",
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                    "name": "ME1",
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                },
                {
                    "name": "Meb",
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                    "name": "Tcf12",
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                    "id": "0060488",
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                }
            ],
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                    "name": "VDIR",
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                    "id": "0060488",
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                    "name": "Homo sapiens",
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                    "id": "0060488",
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                    "name": "transcription factor E2a",
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                {
                    "name": "transcription regulator Pan",
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            ],
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                    "name": "Tcf3",
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                    "name": "Pan2",
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                    "name": "Pan",
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                {
                    "name": "Ptf1c",
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                {
                    "name": "Tcf3",
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                {
                    "name": "Tcfe2a",
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                    "name": "Drosophila melanogaster",
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                    "name": "CG5102-PB",
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                    "name": "da-PB",
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                    "name": "daughter-less",
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                    "name": "daughterless, isoform B",
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                    "name": "daughterless",
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                    "name": "lethal (2) k08611",
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                    "name": "5102",
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                    "name": "CG5102",
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                    "name": "DA",
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                {
                    "name": "Da",
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                {
                    "name": "Dmel\\CG5102",
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                {
                    "name": "Dmel_CG5102",
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                    "name": "SC_DA",
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                    "name": "bHLHb22",
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                {
                    "name": "da",
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                {
                    "name": "l(2)31Ea",
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                    "name": "l(2)k08611",
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                    "id": "0060488",
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                    "name": "Homo sapiens",
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            ],
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                    "name": "Transcription factor E2-alpha",
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                    "name": "Class B basic helix-loop-helix protein 21",
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                    "name": "Immunoglobulin enhancer-binding factor E12/E47",
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                    "name": "Kappa-E2-binding factor",
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                    "name": "NOL1-TCF3 fusion",
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                    "name": "Transcription factor 3",
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                    "name": "Transcription factor ITF-1",
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                    "name": "bHLHb21",
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                    "name": "class B basic helix-loop-helix protein 21",
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                    "name": "helix-loop-helix protein HE47",
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                    "name": "kappa-E2-binding factor",
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                    "name": "E47",
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                    "name": "ITF1",
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                    "name": "TCF3",
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                    "name": "VDIR",
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                    "name": "bHLHb21",
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                    "name": "p75",
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                    "id": "0060488",
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                    "name": "transcription factor HTF-4",
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                    "name": "TCF12",
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                    "name": "BHLHB20",
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                    "name": "CRS3",
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                    "name": "HEB",
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                {
                    "name": "HH26",
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                {
                    "name": "HTF4",
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                {
                    "name": "HsT17266",
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                    "name": "TCF12",
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                {
                    "name": "bHLHb20",
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                    "name": "p64",
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                    "id": "0060488",
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                }
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060488"
}