{
    "disease_id": "DOID:0060870",
    "recommended_name": {
        "id": "DOID:0060870",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060870",
        "name": "isolated growth hormone deficiency",
        "description": "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones."
    },
    "synonyms": [
        {
            "id": "DOID:0060870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060870",
            "name": "IGHD",
            "description": ""
        },
        {
            "id": "DOID:0060870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060870",
            "name": "congenital IGHD",
            "description": ""
        },
        {
            "id": "DOID:0060870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060870",
            "name": "congenital isolated GH deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060870",
            "name": "congenital isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060870",
            "name": "familial isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060870",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060870",
            "name": "non-acquired isolated growth hormone deficiency",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0060872",
            "label": "isolated growth hormone deficiency type II",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060873",
            "label": "isolated growth hormone deficiency type IA",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060874",
            "label": "isolated growth hormone deficiency type IB",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060875",
            "label": "isolated growth hormone deficiency type III",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060872",
        "DOID:0060875",
        "DOID:0060870",
        "DOID:0060873",
        "DOID:0060874"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060870",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060870",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0AB32U2D2",
            "uniprot_id": "A0AB32U2D2_DANRE",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Somatolactin beta isoform X1",
                    "type": "synonym"
                },
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                    "name": "somatolactin beta isoform X1",
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                }
            ],
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                    "name": "smtlb",
                    "type": "recommended"
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                {
                    "name": "slb",
                    "type": "synonym"
                },
                {
                    "name": "smtlb",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060870",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060870"
                }
            ]
        },
        {
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                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Pituitary adenylate cyclase-activating polypeptide type I receptor isoform X1",
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                },
                {
                    "name": "pituitary adenylate cyclase-activating polypeptide type I receptor isoform X1",
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                }
            ],
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                },
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                    "id": "0060870",
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "Insulin-like growth factor-binding protein complex acid labile subunit",
                    "type": "recommended"
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                {
                    "name": "insulin-like growth factor-binding protein complex acid labile subunit",
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                }
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                {
                    "name": "igfals",
                    "type": "recommended"
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                    "id": "0060870",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Growth hormone-releasing hormone receptor",
                    "type": "recommended"
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                    "name": "GHRH receptor",
                    "type": "synonym"
                },
                {
                    "name": "GRF receptor",
                    "type": "synonym"
                },
                {
                    "name": "GRFR",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone-releasing factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone-releasing factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone-releasing hormone receptor precursor",
                    "type": "synonym"
                }
            ],
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                    "name": "Ghrhr",
                    "type": "recommended"
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                {
                    "name": "Ghrfr",
                    "type": "synonym"
                },
                {
                    "name": "Ghrhr",
                    "type": "synonym"
                },
                {
                    "name": "Grfr",
                    "type": "synonym"
                },
                {
                    "name": "little",
                    "type": "synonym"
                },
                {
                    "name": "lit",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060870",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08710-1",
            "uniprot_ac": "O08710",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroglobulin",
                    "type": "recommended"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "congenital goiter",
                    "type": "synonym"
                },
                {
                    "name": "thyroglobulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tg",
                    "type": "recommended"
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                {
                    "name": "Tgn",
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                {
                    "name": "Tg",
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                    "name": "cog",
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                    "id": "0060870",
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                }
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                    "name": "Mus musculus",
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                }
            ],
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                {
                    "name": "Growth hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "GH receptor",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone receptor precursor (GH receptor) (GH binding protein) (GHBP) (Serum binding protein)",
                    "type": "synonym"
                },
                {
                    "name": "Serum-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Somatotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone receptor isoform 2 precursor",
                    "type": "synonym"
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                {
                    "name": "growth hormone receptor/binding protein, high molecular weight",
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                {
                    "name": "growth hormone receptor/binding protein, low molecular weight",
                    "type": "synonym"
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                    "id": "0060870",
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            "uniprot_canonical_ac": "P06880-1",
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                }
            ],
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                    "name": "Somatotropin",
                    "type": "recommended"
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                    "id": "0060870",
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            ],
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                    "name": "Ghsr1a",
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                    "id": "0060870",
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                    "name": "insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor",
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                    "name": "Als",
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                    "name": "Rattus norvegicus",
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                    "id": "0060870",
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                    "name": "growth hormone receptor variant d5-6",
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                    "name": "Gh1",
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                    "name": "Gh",
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                    "name": "RNGHGP",
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                }
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                    "id": "0060870",
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                }
            ]
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                    "name": "GRF receptor",
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                    "name": "growth hormone-releasing hormone receptor isoform 1 precursor",
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                },
                {
                    "name": "somatotropin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSH1",
                    "type": "recommended"
                },
                {
                    "name": "CSH2",
                    "type": "recommended"
                },
                {
                    "name": "GH1",
                    "type": "recommended"
                },
                {
                    "name": "CSH2",
                    "type": "synonym"
                },
                {
                    "name": "GH-N",
                    "type": "synonym"
                },
                {
                    "name": "GH1",
                    "type": "synonym"
                },
                {
                    "name": "GHB5",
                    "type": "synonym"
                },
                {
                    "name": "GHN",
                    "type": "synonym"
                },
                {
                    "name": "GH",
                    "type": "synonym"
                },
                {
                    "name": "IGHD1A",
                    "type": "synonym"
                },
                {
                    "name": "IGHD1B",
                    "type": "synonym"
                },
                {
                    "name": "IGHD2",
                    "type": "synonym"
                },
                {
                    "name": "hGH-N",
                    "type": "synonym"
                },
                {
                    "name": "hGH",
                    "type": "synonym"
                }
            ],
            "record_id": "P01241-1",
            "evidence": [
                {
                    "id": "0060870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060870"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10912-1",
            "uniprot_ac": "P10912",
            "uniprot_id": "GHR_HUMAN",
            "refseq_ac": "NP_000154",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "GH receptor",
                    "type": "synonym"
                },
                {
                    "name": "Serum-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Somatotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone binding protein",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mutant growth hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "serum binding protein",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GHR",
                    "type": "recommended"
                },
                {
                    "name": "GHBP",
                    "type": "synonym"
                },
                {
                    "name": "GHIP",
                    "type": "synonym"
                },
                {
                    "name": "GHR",
                    "type": "synonym"
                }
            ],
            "record_id": "P10912-1",
            "evidence": [
                {
                    "id": "0060870",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060870"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060870"
}