{
    "disease_id": "DOID:0061012",
    "recommended_name": {
        "id": "DOID:0061012",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061012",
        "name": "craniosynostosis 4",
        "description": "A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061012",
            "name": "CRS4",
            "description": ""
        },
        {
            "id": "MONDO:0010929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "name": "craniosynostosis 4",
            "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene."
        },
        {
            "id": "MONDO:0010929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "name": "ERF craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0010929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "name": "ERF-related craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0010929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "name": "craniosynostosis 4",
            "description": ""
        },
        {
            "id": "MONDO:0010929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "name": "craniosynostosis caused by mutation in ERF",
            "description": ""
        },
        {
            "id": "MONDO:0010929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "name": "craniosynostosis type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "name": "CRS4",
            "description": ""
        },
        {
            "id": "MIM:600775",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600775",
            "name": "Craniosynostosis 4",
            "description": "Craniosynostosis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061012"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061012",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061012",
            "categories": []
        },
        {
            "id": "MONDO:0010929",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010929",
            "categories": []
        },
        {
            "id": "MIM:600775",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600775",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70459-1",
            "uniprot_ac": "P70459",
            "uniprot_id": "ERF_MOUSE",
            "refseq_ac": "NP_034285",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ETS domain-containing transcription factor ERF",
                    "type": "recommended"
                },
                {
                    "name": "ETS domain-containing transcription factor ERF isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ETS domain-containing transcription factor ERF",
                    "type": "synonym"
                },
                {
                    "name": "Est2 repressor factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erf",
                    "type": "recommended"
                },
                {
                    "name": "Erf",
                    "type": "synonym"
                }
            ],
            "record_id": "P70459-1",
            "evidence": [
                {
                    "id": "0061012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50548-1",
            "uniprot_ac": "P50548",
            "uniprot_id": "ERF_HUMAN",
            "refseq_ac": "NP_001287964",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ETS domain-containing transcription factor ERF",
                    "type": "recommended"
                },
                {
                    "name": "ETS domain-containing transcription factor ERF isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ETS domain-containing transcription factor ERF",
                    "type": "synonym"
                },
                {
                    "name": "Ets2 repressor factor",
                    "type": "synonym"
                },
                {
                    "name": "PE-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERF",
                    "type": "recommended"
                },
                {
                    "name": "CHYTS",
                    "type": "synonym"
                },
                {
                    "name": "CRS4",
                    "type": "synonym"
                },
                {
                    "name": "ERF",
                    "type": "synonym"
                },
                {
                    "name": "PE-2",
                    "type": "synonym"
                },
                {
                    "name": "PE2",
                    "type": "synonym"
                }
            ],
            "record_id": "P50548-1",
            "evidence": [
                {
                    "id": "600775",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600775"
                },
                {
                    "id": "0061012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LUR4-1",
            "uniprot_ac": "A0ABK0LUR4",
            "uniprot_id": "A0ABK0LUR4_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": "Ets2 repressor factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erf",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LUR4-1",
            "evidence": [
                {
                    "id": "0061012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63090-1",
            "uniprot_ac": "P63090",
            "uniprot_id": "PTN_RAT",
            "refseq_ac": "NP_058762",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pleiotrophin",
                    "type": "recommended"
                },
                {
                    "name": "HB-GAM",
                    "type": "synonym"
                },
                {
                    "name": "HBBM",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-8",
                    "type": "synonym"
                },
                {
                    "name": "HBNF",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding brain mitogen",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 8",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth-associated molecule",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding neutrophic factor",
                    "type": "synonym"
                },
                {
                    "name": "OSF-1",
                    "type": "synonym"
                },
                {
                    "name": "Osteoblast-specific factor 1",
                    "type": "synonym"
                },
                {
                    "name": "PTN",
                    "type": "synonym"
                },
                {
                    "name": "Pleiotrophin (Heparine binding factor, Hbnf, in the mouse)",
                    "type": "synonym"
                },
                {
                    "name": "heparin affine regulatory peptide",
                    "type": "synonym"
                },
                {
                    "name": "heparin binding factor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding brain mitogen",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 8",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth-associated molecule",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding neurotrophic factor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding neutrophic factor",
                    "type": "synonym"
                },
                {
                    "name": "osteoblast-specific factor 1",
                    "type": "synonym"
                },
                {
                    "name": "pleiotrophin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptn",
                    "type": "recommended"
                },
                {
                    "name": "HARP",
                    "type": "synonym"
                },
                {
                    "name": "Hbnf",
                    "type": "synonym"
                },
                {
                    "name": "Ptn",
                    "type": "synonym"
                }
            ],
            "record_id": "P63090-1",
            "evidence": [
                {
                    "id": "0061012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061012"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061012"
}