{
    "disease_id": "DOID:0060872",
    "recommended_name": {
        "id": "DOID:0060872",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060872",
        "name": "isolated growth hormone deficiency type II",
        "description": "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060872",
            "name": "IGHD II",
            "description": ""
        },
        {
            "id": "DOID:0060872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060872",
            "name": "congenital IGHD type II",
            "description": ""
        },
        {
            "id": "DOID:0060872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060872",
            "name": "congenital isolated GH deficiency type II",
            "description": ""
        },
        {
            "id": "DOID:0060872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060872",
            "name": "congenital isolated growth hormone deficiency type II",
            "description": ""
        },
        {
            "id": "DOID:0060872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060872",
            "name": "autosomal dominant isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060872",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060872",
            "name": "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "isolated growth hormone deficiency type II",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "congenital IGHD type II",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "congenital isolated GH deficiency type II",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "congenital isolated growth hormone deficiency type II",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "growth hormone deficiency, isolated, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "Growth hormone deficiency, isolated autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "IGHD2",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "isolated growth hormone deficiency type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "isolated growth hormone deficiency, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "name": "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:173100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/173100",
            "name": "Growth hormone deficiency, isolated, 2",
            "description": "Growth hormone deficiency, isolated, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060872"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060872",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060872",
            "categories": []
        },
        {
            "id": "MONDO:0008250",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008250",
            "categories": []
        },
        {
            "id": "MIM:173100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/173100",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0AB32U2D2",
            "uniprot_id": "A0AB32U2D2_DANRE",
            "refseq_ac": "XP_068079900",
            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Somatolactin beta isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "somatolactin beta isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "smtlb",
                    "type": "recommended"
                },
                {
                    "name": "slb",
                    "type": "synonym"
                },
                {
                    "name": "smtlb",
                    "type": "synonym"
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            ],
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                    "id": "0060872",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P06880-1",
            "uniprot_ac": "P06880",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Somatotropin",
                    "type": "recommended"
                },
                {
                    "name": "Growth hormone",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone b1",
                    "type": "synonym"
                },
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                    "name": "somatotropin precursor",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin",
                    "type": "synonym"
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            ],
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                    "name": "Gh1",
                    "type": "recommended"
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                {
                    "name": "Gh1",
                    "type": "synonym"
                },
                {
                    "name": "Ghb1",
                    "type": "synonym"
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                    "name": "Gh",
                    "type": "synonym"
                }
            ],
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                    "id": "0060872",
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            ]
        },
        {
            "uniprot_canonical_ac": "P01241-1",
            "uniprot_ac": "P01241",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Somatotropin",
                    "type": "recommended"
                },
                {
                    "name": "GH-N",
                    "type": "synonym"
                },
                {
                    "name": "GH",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone 1",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone",
                    "type": "synonym"
                },
                {
                    "name": "Pituitary growth hormone",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone B5",
                    "type": "synonym"
                },
                {
                    "name": "pituitary growth hormone",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin",
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                }
            ],
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                {
                    "name": "CSH1",
                    "type": "recommended"
                },
                {
                    "name": "CSH2",
                    "type": "recommended"
                },
                {
                    "name": "GH1",
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                },
                {
                    "name": "CSH2",
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                },
                {
                    "name": "GH-N",
                    "type": "synonym"
                },
                {
                    "name": "GH1",
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                {
                    "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"
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            ],
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                    "id": "0060872",
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                }
            ]
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                {
                    "name": "Somatotropin",
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                    "name": "growth hormone b1",
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                {
                    "name": "somatotropin",
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                    "name": "Gh1",
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                },
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                    "id": "0060872",
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                    "name": "50 kDa BFA-dependent ADP-ribosylation substrate",
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                    "name": "50-kDa BFA-induced ADP-ribosylated substrate",
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            ],
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                    "name": "Cardiotrophin-1",
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                    "name": "cardiotrophin-1",
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                    "name": "Ctf1",
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Chorionic somatomammotropin hormone 2",
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                    "name": "Choriomammotropin",
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                    "name": "Lactogen",
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                },
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                    "name": "choriomammotropin",
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                    "name": "chorionic somatomammotropin B",
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                    "name": "chorionic somatomammotropin hormone 2 isoform 1 precursor",
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                    "name": "GHB1",
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                    "id": "0060872",
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                    "name": "chorionic somatomammotropin CS-5",
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                    "name": "epididymis secretory sperm binding protein",
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                    "name": "growth hormone B4",
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                    "name": "growth hormone cluster",
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            ],
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                    "name": "Growth hormone variant",
                    "type": "recommended"
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                    "name": "GH-V",
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                {
                    "name": "Growth hormone 2",
                    "type": "synonym"
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                {
                    "name": "Placenta-specific growth hormone",
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                },
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                    "name": "growth hormone B2",
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                {
                    "name": "growth hormone variant isoform 1 precursor",
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                    "name": "placenta-specific growth hormone",
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                    "name": "placental-specific growth hormone",
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                }
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                    "name": "GH2",
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                    "name": "GH-V",
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                    "name": "GH2",
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                    "name": "GHB2",
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                {
                    "name": "GHL",
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                {
                    "name": "GHV",
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                    "name": "hGH-V",
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                    "id": "0060872",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060872"
}