{
    "disease_id": "DOID:0061016",
    "recommended_name": {
        "id": "DOID:0061016",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061016",
        "name": "combined or isolated pituitary growth hormone deficiency 7",
        "description": "A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "DOID:0061016",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061016",
            "name": "Isolated growth hormone deficiency type V",
            "description": ""
        },
        {
            "id": "DOID:0061016",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061016",
            "name": "IGHD5",
            "description": ""
        },
        {
            "id": "MONDO:0032569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032569",
            "name": "isolated growth hormone deficiency, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0032569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032569",
            "name": "pituitary hormone deficiency, combined or isolated, 7",
            "description": ""
        },
        {
            "id": "MONDO:0032569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032569",
            "name": "IGHD5",
            "description": ""
        },
        {
            "id": "MIM:618160",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618160",
            "name": "Pituitary hormone deficiency, combined or isolated, 7",
            "description": "Pituitary hormone deficiency, combined or isolated, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061016"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061016",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061016",
            "categories": []
        },
        {
            "id": "MONDO:0032569",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032569",
            "categories": []
        },
        {
            "id": "MIM:618160",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618160",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q8J0-1",
            "uniprot_ac": "F1Q8J0",
            "uniprot_id": "RNPC3_DANRE",
            "refseq_ac": "NP_001035019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding protein 40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "caliban",
                    "type": "synonym"
                },
                {
                    "name": "clbn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnpc3",
                    "type": "recommended"
                },
                {
                    "name": "rnpc3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136847",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q8J0-1",
            "evidence": [
                {
                    "id": "0061016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UZ01-1",
            "uniprot_ac": "Q3UZ01",
            "uniprot_id": "RNPC3_MOUSE",
            "refseq_ac": "NP_001033785",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding region-containing protein 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnpc3",
                    "type": "recommended"
                },
                {
                    "name": "2810441O16Rik",
                    "type": "synonym"
                },
                {
                    "name": "C030014B17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1839",
                    "type": "synonym"
                },
                {
                    "name": "Rbm40",
                    "type": "synonym"
                },
                {
                    "name": "Rnpc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UZ01-1",
            "evidence": [
                {
                    "id": "0061016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96LT9-1",
            "uniprot_ac": "Q96LT9",
            "uniprot_id": "RNPC3_HUMAN",
            "refseq_ac": "NP_060089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "U11/U12 small nuclear ribonucleoprotein 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U11/U12 snRNP 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U11/U12 snRNP 65K",
                    "type": "synonym"
                },
                {
                    "name": "U11/U12-65K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNPC3",
                    "type": "recommended"
                },
                {
                    "name": "CPHD7",
                    "type": "synonym"
                },
                {
                    "name": "IGHD5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1839",
                    "type": "synonym"
                },
                {
                    "name": "RBM40",
                    "type": "synonym"
                },
                {
                    "name": "RNPC3",
                    "type": "synonym"
                },
                {
                    "name": "RNP",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96LT9-1",
            "evidence": [
                {
                    "id": "618160",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618160"
                },
                {
                    "id": "0061016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G055-1",
            "uniprot_ac": "Q4G055",
            "uniprot_id": "RNPC3_RAT",
            "refseq_ac": "NP_001094280",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding region-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnpc3",
                    "type": "recommended"
                },
                {
                    "name": "Rbm40",
                    "type": "synonym"
                },
                {
                    "name": "Rnpc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G055-1",
            "evidence": [
                {
                    "id": "0061016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LGA2-1",
            "uniprot_ac": "A0A0B4LGA2",
            "uniprot_id": "A0A0B4LGA2_DROME",
            "refseq_ac": "NP_001286703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RRM domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG44249-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snrnp65",
                    "type": "recommended"
                },
                {
                    "name": "65K",
                    "type": "synonym"
                },
                {
                    "name": "CG11478",
                    "type": "synonym"
                },
                {
                    "name": "CG30327",
                    "type": "synonym"
                },
                {
                    "name": "CG42257",
                    "type": "synonym"
                },
                {
                    "name": "CG44249",
                    "type": "synonym"
                },
                {
                    "name": "Dm65K",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44249",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44249",
                    "type": "synonym"
                },
                {
                    "name": "cg11478",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LGA2-1",
            "evidence": [
                {
                    "id": "0061016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061016"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061016"
}