{
    "disease_id": "DOID:0111779",
    "recommended_name": {
        "id": "DOID:0111779",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111779",
        "name": "X-linked panhypopituitarism",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111779",
            "name": "PHPX",
            "description": ""
        },
        {
            "id": "DOID:0111779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111779",
            "name": "pituitary dwarfism IV",
            "description": ""
        },
        {
            "id": "MONDO:0010712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010712",
            "name": "panhypopituitarism, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010712",
            "name": "panhypopituitarism, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010712",
            "name": "PHPX",
            "description": ""
        },
        {
            "id": "MONDO:0010712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010712",
            "name": "panhypopituitarism X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010712",
            "name": "pituitary dwarfism IV (formerly)",
            "description": ""
        },
        {
            "id": "MIM:312000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/312000",
            "name": "Panhypopituitarism X-linked",
            "description": "Panhypopituitarism X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111779"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111779",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111779",
            "categories": []
        },
        {
            "id": "MONDO:0010712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010712",
            "categories": []
        },
        {
            "id": "MIM:312000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/312000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6EJB7-1",
            "uniprot_ac": "Q6EJB7",
            "uniprot_id": "SOX3_DANRE",
            "refseq_ac": "NP_001001811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sox-3",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 3",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sox-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sox3",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd2036",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb493",
                    "type": "synonym"
                },
                {
                    "name": "sox3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd02a08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110279",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6EJB7-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2Z1R2-1",
            "uniprot_ac": "Q2Z1R2",
            "uniprot_id": "SOX1B_DANRE",
            "refseq_ac": "NP_001032751",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sox-1b",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 1b",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 1b",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sox-1b",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor sox1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sox1b",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-138g9.1",
                    "type": "synonym"
                },
                {
                    "name": "sox1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2Z1R2-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DGL6-1",
            "uniprot_ac": "Q6DGL6",
            "uniprot_id": "SOX1A_DANRE",
            "refseq_ac": "NP_001002483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sox-1a",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 1a",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 1a",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX1A",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sox-1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sox1a",
                    "type": "recommended"
                },
                {
                    "name": "fi38c08",
                    "type": "synonym"
                },
                {
                    "name": "fj38h03",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-58d5.1",
                    "type": "synonym"
                },
                {
                    "name": "sox1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi38c08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj38h03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92865",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGL6-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53784-1",
            "uniprot_ac": "P53784",
            "uniprot_id": "SOX3_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox3",
                    "type": "recommended"
                },
                {
                    "name": "Sox-3",
                    "type": "synonym"
                }
            ],
            "record_id": "P53784-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53783-1",
            "uniprot_ac": "P53783",
            "uniprot_id": "SOX1_MOUSE",
            "refseq_ac": "NP_033259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-1",
                    "type": "recommended"
                },
                {
                    "name": "SRY-box containing gene 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox1",
                    "type": "recommended"
                },
                {
                    "name": "Sox-1",
                    "type": "synonym"
                },
                {
                    "name": "Sox1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53783-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41225-1",
            "uniprot_ac": "P41225",
            "uniprot_id": "SOX3_HUMAN",
            "refseq_ac": "NP_005625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-3",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 3",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX3",
                    "type": "recommended"
                },
                {
                    "name": "GHDX",
                    "type": "synonym"
                },
                {
                    "name": "MRGH",
                    "type": "synonym"
                },
                {
                    "name": "PHPX",
                    "type": "synonym"
                },
                {
                    "name": "PHP",
                    "type": "synonym"
                },
                {
                    "name": "SOX3",
                    "type": "synonym"
                },
                {
                    "name": "SOXB",
                    "type": "synonym"
                }
            ],
            "record_id": "P41225-1",
            "evidence": [
                {
                    "id": "312000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/312000"
                },
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZM42-1",
            "uniprot_ac": "A0A8I5ZM42",
            "uniprot_id": "A0A8I5ZM42_RAT",
            "refseq_ac": "NP_001388121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SRY-box 3",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 3",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox3",
                    "type": "recommended"
                },
                {
                    "name": "Sox3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZM42-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L5T4-1",
            "uniprot_ac": "A0ABK0L5T4",
            "uniprot_id": "A0ABK0L5T4_RAT",
            "refseq_ac": "NP_001389469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SRY (sex determining region Y)-box 1",
                    "type": "synonym"
                },
                {
                    "name": "SRY box 1",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-1-like",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox1",
                    "type": "recommended"
                },
                {
                    "name": "Sox1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L5T4-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24533-1",
            "uniprot_ac": "Q24533",
            "uniprot_id": "DICH_DROME",
            "refseq_ac": "NP_001261830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SOX domain-containing protein dichaete",
                    "type": "recommended"
                },
                {
                    "name": "CG5893-PB",
                    "type": "synonym"
                },
                {
                    "name": "D-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fish-Hook",
                    "type": "synonym"
                },
                {
                    "name": "Protein fish-hook",
                    "type": "synonym"
                },
                {
                    "name": "Sox box protein 70D",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM10",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM23",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM33",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM36",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM63",
                    "type": "synonym"
                },
                {
                    "name": "dichaete, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dichaete",
                    "type": "synonym"
                },
                {
                    "name": "dicheate",
                    "type": "synonym"
                },
                {
                    "name": "fish hook",
                    "type": "synonym"
                },
                {
                    "name": "lethal of dichaete",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D",
                    "type": "recommended"
                },
                {
                    "name": "CG5893",
                    "type": "synonym"
                },
                {
                    "name": "DM10",
                    "type": "synonym"
                },
                {
                    "name": "DM23",
                    "type": "synonym"
                },
                {
                    "name": "DM33",
                    "type": "synonym"
                },
                {
                    "name": "DM36",
                    "type": "synonym"
                },
                {
                    "name": "DM63",
                    "type": "synonym"
                },
                {
                    "name": "Dic",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5893",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5893",
                    "type": "synonym"
                },
                {
                    "name": "D",
                    "type": "synonym"
                },
                {
                    "name": "SOX70D",
                    "type": "synonym"
                },
                {
                    "name": "SOX70",
                    "type": "synonym"
                },
                {
                    "name": "SOXB2.1",
                    "type": "synonym"
                },
                {
                    "name": "SOXDP",
                    "type": "synonym"
                },
                {
                    "name": "Sox B2-1",
                    "type": "synonym"
                },
                {
                    "name": "Sox70D",
                    "type": "synonym"
                },
                {
                    "name": "Sox70",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM10",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM23",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM33",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM36",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM63",
                    "type": "synonym"
                },
                {
                    "name": "d",
                    "type": "synonym"
                },
                {
                    "name": "fish",
                    "type": "synonym"
                },
                {
                    "name": "l(3)LG9",
                    "type": "synonym"
                },
                {
                    "name": "loD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24533-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PCZ7-1",
            "uniprot_ac": "M9PCZ7",
            "uniprot_id": "M9PCZ7_DROME",
            "refseq_ac": "NP_001260269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG18024-PB",
                    "type": "synonym"
                },
                {
                    "name": "Sox-neuro",
                    "type": "synonym"
                },
                {
                    "name": "SoxN-PB",
                    "type": "synonym"
                },
                {
                    "name": "SoxNeuro, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related DM64",
                    "type": "synonym"
                },
                {
                    "name": "soxneuro",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SoxN",
                    "type": "recommended"
                },
                {
                    "name": "CG18024",
                    "type": "synonym"
                },
                {
                    "name": "DM64",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18024",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18024",
                    "type": "synonym"
                },
                {
                    "name": "SOX29F",
                    "type": "synonym"
                },
                {
                    "name": "SOXB1",
                    "type": "synonym"
                },
                {
                    "name": "Sox B1",
                    "type": "synonym"
                },
                {
                    "name": "SoxN",
                    "type": "synonym"
                },
                {
                    "name": "Sry-rDM64",
                    "type": "synonym"
                },
                {
                    "name": "soxNeuro",
                    "type": "synonym"
                },
                {
                    "name": "soxN",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PCZ7-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00570-1",
            "uniprot_ac": "O00570",
            "uniprot_id": "SOX1_HUMAN",
            "refseq_ac": "NP_005977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-1",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 1",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 1",
                    "type": "synonym"
                },
                {
                    "name": "SRY-related HMG-box gene 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX1",
                    "type": "recommended"
                },
                {
                    "name": "SOX1",
                    "type": "synonym"
                }
            ],
            "record_id": "O00570-1",
            "evidence": [
                {
                    "id": "0111779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111779"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111779"
}