{
    "disease_id": "DOID:0060857",
    "recommended_name": {
        "id": "DOID:0060857",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060857",
        "name": "septooptic dysplasia",
        "description": "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14."
    },
    "synonyms": [
        {
            "id": "DOID:0060857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060857",
            "name": "De Morsier syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060857",
            "name": "SOD",
            "description": ""
        },
        {
            "id": "DOID:0060857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060857",
            "name": "septo-optic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "septooptic dysplasia",
            "description": "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "De Morsier syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "SOD",
            "description": ""
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "septo-optic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "septo-optic dysplasia sequence",
            "description": ""
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "septooptic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "hypopituitarism and septooptic 'dysplasia'",
            "description": ""
        },
        {
            "id": "MONDO:0008428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "name": "septo-optic dysplasia with growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MIM:182230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182230",
            "name": "Septooptic dysplasia",
            "description": "Septooptic dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060857"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060857",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060857",
            "categories": []
        },
        {
            "id": "MONDO:0008428",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008428",
            "categories": []
        },
        {
            "id": "MIM:182230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/182230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61658-1",
            "uniprot_ac": "Q61658",
            "uniprot_id": "HESX1_MOUSE",
            "refseq_ac": "NP_034550",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox expressed in ES cells 1",
                    "type": "recommended"
                },
                {
                    "name": "Anterior-restricted homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein ANF",
                    "type": "synonym"
                },
                {
                    "name": "Rathke pouch homeo box",
                    "type": "synonym"
                },
                {
                    "name": "anterior-restricted homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "homeo box gene expressed in ES cells",
                    "type": "synonym"
                },
                {
                    "name": "homeobox expressed in ES cells 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein ANF",
                    "type": "synonym"
                },
                {
                    "name": "rathke pouch homeo box",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hesx1",
                    "type": "recommended"
                },
                {
                    "name": "HES-1",
                    "type": "synonym"
                },
                {
                    "name": "Hes-1",
                    "type": "synonym"
                },
                {
                    "name": "Hesx1",
                    "type": "synonym"
                },
                {
                    "name": "Rpx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61658-1",
            "evidence": [
                {
                    "id": "0060857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBX0-1",
            "uniprot_ac": "Q9UBX0",
            "uniprot_id": "HESX1_HUMAN",
            "refseq_ac": "NP_003856",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox expressed in ES cells 1",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein ANF",
                    "type": "synonym"
                },
                {
                    "name": "Rathke pouch homeobox",
                    "type": "synonym"
                },
                {
                    "name": "Rathke's pouch homeobox",
                    "type": "synonym"
                },
                {
                    "name": "hAnf",
                    "type": "synonym"
                },
                {
                    "name": "homeobox expressed in ES cells 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein ANF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HESX1",
                    "type": "recommended"
                },
                {
                    "name": "ANF",
                    "type": "synonym"
                },
                {
                    "name": "CPHD5",
                    "type": "synonym"
                },
                {
                    "name": "HANF",
                    "type": "synonym"
                },
                {
                    "name": "HESX1",
                    "type": "synonym"
                },
                {
                    "name": "RPX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBX0-1",
            "evidence": [
                {
                    "id": "182230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/182230"
                },
                {
                    "id": "0060857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AEG9-1",
            "uniprot_ac": "D4AEG9",
            "uniprot_id": "D4AEG9_RAT",
            "refseq_ac": "NP_001102576",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox expressed in ES cells 1",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein ANF",
                    "type": "synonym"
                },
                {
                    "name": "homeo box gene expressed in ES cells",
                    "type": "synonym"
                },
                {
                    "name": "homeobox expressed in ES cells 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hesx1",
                    "type": "recommended"
                },
                {
                    "name": "Hesx1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563858",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AEG9-1",
            "evidence": [
                {
                    "id": "0060857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDH9-1",
            "uniprot_ac": "Q9VDH9",
            "uniprot_id": "Q9VDH9_DROME",
            "refseq_ac": "NP_650921",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG15696-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15696",
                    "type": "recommended"
                },
                {
                    "name": "CG15696",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15696",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15696",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDH9-1",
            "evidence": [
                {
                    "id": "0060857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060857"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060857"
}