{
    "disease_id": "DOID:0060874",
    "recommended_name": {
        "id": "DOID:0060874",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060874",
        "name": "isolated growth hormone deficiency type IB",
        "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."
    },
    "synonyms": [
        {
            "id": "DOID:0060874",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060874",
            "name": "IGHD IB",
            "description": ""
        },
        {
            "id": "DOID:0060874",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060874",
            "name": "congenital IGHD type IB",
            "description": ""
        },
        {
            "id": "DOID:0060874",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060874",
            "name": "congenital isolated GH deficiency type IB",
            "description": ""
        },
        {
            "id": "DOID:0060874",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060874",
            "name": "dwarfism of Sindh",
            "description": ""
        },
        {
            "id": "DOID:0060874",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060874",
            "name": "congenital isolated growth hormone deficiency type IB",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "isolated growth hormone deficiency type IB",
            "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "congenital IGHD type IB",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "congenital isolated GH deficiency type IB",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "congenital isolated growth hormone deficiency type IB",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "dwarfism of Sindh",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "growth hormone deficiency, isolated, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "IGHD 1B",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "IGHD1B",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "isolated growth hormone deficiency type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0013006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "name": "isolated growth hormone deficiency, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0032567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032567",
            "name": "isolated growth hormone deficiency, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0032567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032567",
            "name": "growth hormone deficiency, isolated, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0032567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032567",
            "name": "IGHD4",
            "description": ""
        },
        {
            "id": "MIM:612781",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612781",
            "name": "Growth hormone deficiency, isolated, 1B",
            "description": "Growth hormone deficiency, isolated, 1B"
        },
        {
            "id": "MIM:618157",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618157",
            "name": "Growth hormone deficiency, isolated, 4",
            "description": "Growth hormone deficiency, isolated, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060874"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060874",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060874",
            "categories": []
        },
        {
            "id": "MONDO:0013006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013006",
            "categories": []
        },
        {
            "id": "MONDO:0032567",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032567",
            "categories": []
        },
        {
            "id": "MIM:612781",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612781",
            "categories": []
        },
        {
            "id": "MIM:618157",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618157",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "E7FF79",
            "uniprot_id": "E7FF79_DANRE",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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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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                    "name": "ghrhrb",
                    "type": "recommended"
                },
                {
                    "name": "ghrhrb",
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                }
            ],
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                    "id": "0060874",
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                }
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            "uniprot_canonical_ac": "A0AB32U2D2-1",
            "uniprot_ac": "A0AB32U2D2",
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                }
            ],
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                    "name": "Somatolactin beta isoform X1",
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                    "name": "somatolactin beta isoform X1",
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                    "name": "smtlb",
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                    "name": "slb",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "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"
                },
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                    "name": "GRF receptor",
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                    "name": "GRFR",
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                {
                    "name": "growth hormone-releasing hormone receptor precursor",
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                    "name": "Ghrfr",
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                    "name": "Ghrhr",
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                },
                {
                    "name": "Grfr",
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                    "name": "little",
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            ]
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        {
            "uniprot_canonical_ac": "P06880-1",
            "uniprot_ac": "P06880",
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                }
            ],
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                    "id": "0060874",
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            "uniprot_canonical_ac": "P01241-1",
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                }
            ],
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                    "name": "pituitary growth hormone",
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                    "name": "IGHD2",
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                    "id": "0060874",
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            "uniprot_ac": "Q02643",
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                    "name": "Homo sapiens",
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                }
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                    "id": "0060874",
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            "uniprot_canonical_ac": "Q02644-1",
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                    "name": "Rattus norvegicus",
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                    "name": "GHRHREC",
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                    "name": "Somatotropin",
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                    "name": "somatotropin precursor",
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                {
                    "name": "somatotropin",
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                }
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                    "name": "Gh1",
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                {
                    "name": "Gh1",
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                    "name": "Ghb1",
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                    "name": "Gh",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060874"
}