{
    "disease_id": "DOID:0061017",
    "recommended_name": {
        "id": "DOID:0061017",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061017",
        "name": "combined pituitary hormone deficiency 4",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "DOID:0061017",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061017",
            "name": "short stature-pituitary and cerebellar defects-small sella turcica syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "short stature-pituitary and cerebellar defects-small sella turcica syndrome",
            "description": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)."
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "CPHD4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined 4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined with or without cerebellar defects",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "pituitary hormone deficiency, combined, 4",
            "description": ""
        },
        {
            "id": "MONDO:0009880",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "name": "short stature, pituitary and cerebellar defects and small sella turcica",
            "description": ""
        },
        {
            "id": "MIM:262700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262700",
            "name": "Pituitary hormone deficiency, combined, 4",
            "description": "Pituitary hormone deficiency, combined, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061017"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061017",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061017",
            "categories": []
        },
        {
            "id": "MONDO:0009880",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009880",
            "categories": []
        },
        {
            "id": "MIM:262700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/262700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S5S7-1",
            "uniprot_ac": "B0S5S7",
            "uniprot_id": "B0S5S7_DANRE",
            "refseq_ac": "NP_001116445",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM/homeobox protein Lhx4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lhx4",
                    "type": "recommended"
                },
                {
                    "name": "lhx4",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-35f11.3",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S5S7-1",
            "evidence": [
                {
                    "id": "0061017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53776-1",
            "uniprot_ac": "P53776",
            "uniprot_id": "LHX4_MOUSE",
            "refseq_ac": "NP_034842",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM/homeobox protein Lhx4",
                    "type": "recommended"
                },
                {
                    "name": "LIM homeo box protein 4",
                    "type": "synonym"
                },
                {
                    "name": "LIM homeobox protein 4",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhx4",
                    "type": "recommended"
                },
                {
                    "name": "A330062J17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gsh-4",
                    "type": "synonym"
                },
                {
                    "name": "Gsh4",
                    "type": "synonym"
                },
                {
                    "name": "Lhx4",
                    "type": "synonym"
                }
            ],
            "record_id": "P53776-1",
            "evidence": [
                {
                    "id": "0061017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969G2-1",
            "uniprot_ac": "Q969G2",
            "uniprot_id": "LHX4_HUMAN",
            "refseq_ac": "NP_203129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM/homeobox protein Lhx4",
                    "type": "recommended"
                },
                {
                    "name": "LIM homeobox protein 4",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LHX4",
                    "type": "recommended"
                },
                {
                    "name": "CPHD4",
                    "type": "synonym"
                },
                {
                    "name": "LHX4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969G2-1",
            "evidence": [
                {
                    "id": "262700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/262700"
                },
                {
                    "id": "0061017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36166-1",
            "uniprot_ac": "P36166",
            "uniprot_id": "PXL1_YEAST",
            "refseq_ac": "NP_013016",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paxillin-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Pxl1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PXL1",
                    "type": "recommended"
                },
                {
                    "name": "PXL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P36166-1",
            "evidence": [
                {
                    "id": "0061017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LZ08-1",
            "uniprot_ac": "F1LZ08",
            "uniprot_id": "F1LZ08_RAT",
            "refseq_ac": "NP_001101818",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM homeobox 4",
                    "type": "synonym"
                },
                {
                    "name": "LIM homeobox protein 4",
                    "type": "synonym"
                },
                {
                    "name": "LIM/homeobox protein Lhx4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lhx4",
                    "type": "recommended"
                },
                {
                    "name": "Lhx4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LZ08-1",
            "evidence": [
                {
                    "id": "0061017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061017"
                }
            ]
        },
        {
            "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": "0061017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061017"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061017"
}