{
    "disease_id": "DOID:0061020",
    "recommended_name": {
        "id": "DOID:0061020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061020",
        "name": "combined pituitary hormone deficiency 2",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0061020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061020",
            "name": "CPHD2",
            "description": ""
        },
        {
            "id": "MONDO:0009878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009878",
            "name": "pituitary hormone deficiency, combined, 2",
            "description": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene."
        },
        {
            "id": "MONDO:0009878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009878",
            "name": "PROP1 combined pituitary hormone deficiencies, genetic form",
            "description": ""
        },
        {
            "id": "MONDO:0009878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009878",
            "name": "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1",
            "description": ""
        },
        {
            "id": "MONDO:0009878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009878",
            "name": "pituitary hormone deficiency, combined, 2",
            "description": ""
        },
        {
            "id": "MONDO:0009878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009878",
            "name": "pituitary hormone deficiency, combined, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009878",
            "name": "CPHD2",
            "description": ""
        },
        {
            "id": "MIM:262600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262600",
            "name": "Pituitary hormone deficiency, combined, 2",
            "description": "Pituitary hormone deficiency, combined, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061020"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061020",
            "categories": []
        },
        {
            "id": "MONDO:0009878",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009878",
            "categories": []
        },
        {
            "id": "MIM:262600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/262600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QKN2-1",
            "uniprot_ac": "A0A2R8QKN2",
            "uniprot_id": "A0A2R8QKN2_DANRE",
            "refseq_ac": "NP_001170932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein prophet of Pit-1",
                    "type": "recommended"
                },
                {
                    "name": "PROP paired-like homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "Pituitary-specific homeodomain factor",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor prop1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prop1",
                    "type": "recommended"
                },
                {
                    "name": "prop1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-93n23.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QKN2-1",
            "evidence": [
                {
                    "id": "0061020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97458-1",
            "uniprot_ac": "P97458",
            "uniprot_id": "PROP1_MOUSE",
            "refseq_ac": "NP_032962",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein prophet of Pit-1",
                    "type": "recommended"
                },
                {
                    "name": "Ames dwarf",
                    "type": "synonym"
                },
                {
                    "name": "PROP-1",
                    "type": "synonym"
                },
                {
                    "name": "Pituitary-specific homeodomain factor",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein prophet of Pit-1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary specific homeodomain factor",
                    "type": "synonym"
                },
                {
                    "name": "prophet of Pit-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prop1",
                    "type": "recommended"
                },
                {
                    "name": "Prop-1",
                    "type": "synonym"
                },
                {
                    "name": "Prop1",
                    "type": "synonym"
                },
                {
                    "name": "df",
                    "type": "synonym"
                }
            ],
            "record_id": "P97458-1",
            "evidence": [
                {
                    "id": "0061020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75360-1",
            "uniprot_ac": "O75360",
            "uniprot_id": "PROP1_HUMAN",
            "refseq_ac": "NP_006252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein prophet of Pit-1",
                    "type": "recommended"
                },
                {
                    "name": "PROP-1",
                    "type": "synonym"
                },
                {
                    "name": "Pituitary-specific homeodomain factor",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein prophet of Pit-1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary-specific homeodomain factor",
                    "type": "synonym"
                },
                {
                    "name": "prophet of Pit1, paired-like homeodomain transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PROP1",
                    "type": "recommended"
                },
                {
                    "name": "CPHD2",
                    "type": "synonym"
                },
                {
                    "name": "PROP-1",
                    "type": "synonym"
                },
                {
                    "name": "PROP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O75360-1",
            "evidence": [
                {
                    "id": "262600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/262600"
                },
                {
                    "id": "0061020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061020"
                }
            ]
        },
        {
            "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": "262600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/262600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04116-1",
            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
            "refseq_ac": "NP_010739",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein YHP1",
                    "type": "recommended"
                },
                {
                    "name": "Yhp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YHP1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.36",
                    "type": "synonym"
                },
                {
                    "name": "YHP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04116-1",
            "evidence": [
                {
                    "id": "0061020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWH1-1",
            "uniprot_ac": "Q9VWH1",
            "uniprot_id": "Q9VWH1_DROME",
            "refseq_ac": "NP_608318",
            "glycoprotein": "yes",
            "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": "CG32532-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG14201",
                    "type": "recommended"
                },
                {
                    "name": "CG14202",
                    "type": "recommended"
                },
                {
                    "name": "CG14203",
                    "type": "recommended"
                },
                {
                    "name": "CG14201",
                    "type": "synonym"
                },
                {
                    "name": "CG14202",
                    "type": "synonym"
                },
                {
                    "name": "CG14203",
                    "type": "synonym"
                },
                {
                    "name": "CG32532",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32532",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32532",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWH1-1",
            "evidence": [
                {
                    "id": "0061020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTX7-1",
            "uniprot_ac": "Q9VTX7",
            "uniprot_id": "Q9VTX7_DROME",
            "refseq_ac": "NP_001014582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10488-PB",
                    "type": "synonym"
                },
                {
                    "name": "Eyegone, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Eyegone, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Eyegone, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "eye gone",
                    "type": "synonym"
                },
                {
                    "name": "eyegone, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "eyegone",
                    "type": "synonym"
                },
                {
                    "name": "eyeone",
                    "type": "synonym"
                },
                {
                    "name": "eyg-PB",
                    "type": "synonym"
                },
                {
                    "name": "eygone",
                    "type": "synonym"
                },
                {
                    "name": "lune",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eyg",
                    "type": "recommended"
                },
                {
                    "name": "BK27",
                    "type": "synonym"
                },
                {
                    "name": "Bk27",
                    "type": "synonym"
                },
                {
                    "name": "CG10488",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10488",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10488",
                    "type": "synonym"
                },
                {
                    "name": "EYG",
                    "type": "synonym"
                },
                {
                    "name": "Eyg",
                    "type": "synonym"
                },
                {
                    "name": "eyg",
                    "type": "synonym"
                },
                {
                    "name": "lun",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTX7-1",
            "evidence": [
                {
                    "id": "0061020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061020"
}