{
    "disease_id": "DOID:0061021",
    "recommended_name": {
        "id": "DOID:0061021",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061021",
        "name": "combined pituitary hormone deficiency 3",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0061021",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061021",
            "name": "CPHD3",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "non-acquired combined pituitary hormone deficiency with spine abnormalities",
            "description": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated."
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "non-acquired combined pituitary hormone deficiency with spine abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "pituitary hormone deficiency, combined, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "CPHD3",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "Deafness, sensorineural with pituitary dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "Pituitary hormone deficiency, combined with rigid cervical spine",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "Winkelmann-Bethge-Pfeiffer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "name": "pituitary hormone deficiency, combined, 3",
            "description": ""
        },
        {
            "id": "MIM:221750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221750",
            "name": "Pituitary hormone deficiency, combined, 3",
            "description": "Pituitary hormone deficiency, combined, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061021"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061021",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061021",
            "categories": []
        },
        {
            "id": "MONDO:0009091",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009091",
            "categories": []
        },
        {
            "id": "MIM:221750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/221750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90421-1",
            "uniprot_ac": "Q90421",
            "uniprot_id": "LHX3_DANRE",
            "refseq_ac": "NP_571283",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein LIM-3",
                    "type": "synonym"
                },
                {
                    "name": "LIM homeobox protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein LIM-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lhx3",
                    "type": "recommended"
                },
                {
                    "name": "lhx3",
                    "type": "synonym"
                },
                {
                    "name": "lim3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90421-1",
            "evidence": [
                {
                    "id": "0061021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50481-1",
            "uniprot_ac": "P50481",
            "uniprot_id": "LHX3_MOUSE",
            "refseq_ac": "NP_001034742",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein LIM-3",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein P-LIM",
                    "type": "synonym"
                },
                {
                    "name": "LIM homeo box protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LIM homeobox protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein LIM-3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein P-LIM",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhx3",
                    "type": "recommended"
                },
                {
                    "name": "Lhx3",
                    "type": "synonym"
                },
                {
                    "name": "Lim-3",
                    "type": "synonym"
                },
                {
                    "name": "Lim3",
                    "type": "synonym"
                },
                {
                    "name": "P-LIM",
                    "type": "synonym"
                },
                {
                    "name": "Plim",
                    "type": "synonym"
                },
                {
                    "name": "mLIM3",
                    "type": "synonym"
                },
                {
                    "name": "mLim-3",
                    "type": "synonym"
                }
            ],
            "record_id": "P50481-1",
            "evidence": [
                {
                    "id": "0061021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBR4-1",
            "uniprot_ac": "Q9UBR4",
            "uniprot_id": "LHX3_HUMAN",
            "refseq_ac": "NP_055379",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "recommended"
                },
                {
                    "name": "LIM homeobox protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeodomain protein LHX3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LHX3",
                    "type": "recommended"
                },
                {
                    "name": "CPHD3",
                    "type": "synonym"
                },
                {
                    "name": "LHX3",
                    "type": "synonym"
                },
                {
                    "name": "LIM3",
                    "type": "synonym"
                },
                {
                    "name": "M2-LHX3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBR4-1",
            "evidence": [
                {
                    "id": "221750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/221750"
                },
                {
                    "id": "0061021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8E3-1",
            "uniprot_ac": "G3V8E3",
            "uniprot_id": "G3V8E3_RAT",
            "refseq_ac": "NP_001413926",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "recommended"
                },
                {
                    "name": "LIM homeobox protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LIM homeodomain protein 3a",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhx3",
                    "type": "recommended"
                },
                {
                    "name": "Lhx3",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8E3-1",
            "evidence": [
                {
                    "id": "0061021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PD53-1",
            "uniprot_ac": "M9PD53",
            "uniprot_id": "M9PD53_DROME",
            "refseq_ac": "NP_001260559",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10699-PG",
                    "type": "synonym"
                },
                {
                    "name": "Lim3, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Lim3-PG",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)37Bd",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lim3",
                    "type": "recommended"
                },
                {
                    "name": "CG10699",
                    "type": "synonym"
                },
                {
                    "name": "CG15174",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10699",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10699",
                    "type": "synonym"
                },
                {
                    "name": "LIM3",
                    "type": "synonym"
                },
                {
                    "name": "Lim-3A",
                    "type": "synonym"
                },
                {
                    "name": "Lim3A",
                    "type": "synonym"
                },
                {
                    "name": "Lim3",
                    "type": "synonym"
                },
                {
                    "name": "l(2)37Bd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)Bd",
                    "type": "synonym"
                },
                {
                    "name": "lim3",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PD53-1",
            "evidence": [
                {
                    "id": "0061021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061021"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061021"
}