{
    "disease_id": "DOID:0060873",
    "recommended_name": {
        "id": "DOID:0060873",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060873",
        "name": "isolated growth hormone deficiency type IA",
        "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060873",
            "name": "IGHD IA",
            "description": ""
        },
        {
            "id": "DOID:0060873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060873",
            "name": "Illig-type growth hormone deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060873",
            "name": "pituitary dwarfism I",
            "description": ""
        },
        {
            "id": "DOID:0060873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060873",
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            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060873",
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            "description": ""
        },
        {
            "id": "DOID:0060873",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060873",
            "name": "autosomal recessive isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "isolated growth hormone deficiency type IA",
            "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3."
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "Illig-type growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "congenital IGHD type IA",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "congenital isolated GH deficiency type IA",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "congenital isolated growth hormone deficiency type IA",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "growth hormone deficiency, isolated, type IA",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "isolated growth hormone deficiency type IA",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "primordial dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "sexual ateleiotic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "Growth hormone deficiency, isolated autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "IGHD1A",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
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            "name": "ILLIG type growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
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            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "congenital IGHD",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
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            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
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            "name": "congenital isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "isolated growth hormone deficiency type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
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            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
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            "name": "non-acquired isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009876",
            "name": "pituitary dwarfism 1",
            "description": ""
        },
        {
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            "url": "https://www.omim.org/entry/262400",
            "name": "Growth hormone deficiency, isolated, 1A",
            "description": "Growth hormone deficiency, isolated, 1A"
        }
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            "id": "DOID:0060873",
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                    "name": "2.7.10.2",
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                },
                {
                    "name": "JAK-2",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2 (a protein tyrosine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2",
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                },
                {
                    "name": "tyrosine-protein kinase JAK2",
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                }
            ],
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                    "name": "Jak2",
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                    "name": "Jak2",
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                }
            ],
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                {
                    "name": "Drosophila melanogaster",
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            ],
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                    "name": "3.1.-.-",
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                {
                    "name": "3.6.4.12",
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                },
                {
                    "name": "CG2990-PB",
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                {
                    "name": "DNA helicase",
                    "type": "synonym"
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                {
                    "name": "DNA replication helicase/nuclease 2, isoform B",
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                },
                {
                    "name": "Dna2-PB",
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                },
                {
                    "name": "mutagen-sensitive 109",
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                }
            ],
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                    "name": "CG2990",
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                    "name": "DNA2",
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                {
                    "name": "DmDNA2",
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                {
                    "name": "Dmel\\CG2990",
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                {
                    "name": "Dmel_CG2990",
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                    "name": "Dna2",
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                {
                    "name": "l(1)19-65",
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                {
                    "name": "l(1)9Aa",
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                {
                    "name": "mus(1)107",
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                },
                {
                    "name": "mus(1)109",
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                {
                    "name": "mus-109",
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                {
                    "name": "mus107",
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                    "name": "mus109",
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                    "name": "GRF",
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                {
                    "name": "Growth hormone-releasing factor",
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                    "name": "Growth hormone-releasing hormone",
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                {
                    "name": "Somatocrinin",
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                {
                    "name": "Somatorelin",
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                {
                    "name": "growth hormone releasing factor",
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                    "name": "sermorelin",
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                    "name": "somatocrinin",
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                {
                    "name": "somatoliberin isoform 2 preproprotein",
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                    "name": "somatorelin",
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            ],
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            ],
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                    "name": "DNA 5'-3' helicase DNA2",
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                {
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                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "synonym"
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                    "name": "DNA replication helicase 2 homolog",
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                {
                    "name": "DNA2 DNA replication helicase 2-like",
                    "type": "synonym"
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                    "name": "DNA2-like helicase",
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                    "name": "hDNA2",
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                    "name": "DNA2",
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                    "name": "DNA2L",
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                },
                {
                    "name": "DNA2",
                    "type": "synonym"
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                {
                    "name": "KIAA0083",
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                {
                    "name": "RTS4",
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                    "name": "hDNA2",
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                    "id": "0060873",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060873"
}