{
    "disease_id": "DOID:0060875",
    "recommended_name": {
        "id": "DOID:0060875",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060875",
        "name": "isolated growth hormone deficiency type III",
        "description": "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "Fleisher syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "IGHD III",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "congenital isolated growth hormone deficiency type III",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "X-linked IGHD",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "X-linked isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "congenital IGHD type III",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "congenital isolated GH deficiency type III",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "growth hormone deficiency with hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "X-linked hypogammaglobulinemia and isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060875",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "name": "X-linked agammaglobulinemia and isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "isolated growth hormone deficiency type III",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "Fleisher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "X-linked IGHD",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "X-linked isolated growth hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "congenital IGHD type III",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "congenital isolated GH deficiency type III",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "congenital isolated growth hormone deficiency type III",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "isolated growth hormone deficiency type III",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "IGHD3",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "isolated growth hormone deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "name": "isolated growth hormone deficiency, type III",
            "description": ""
        },
        {
            "id": "MIM:307200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/307200",
            "name": "Growth hormone deficiency, isolated, 3, with agammaglobulinemia",
            "description": "Growth hormone deficiency, isolated, 3, with agammaglobulinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060875"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060875",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060875",
            "categories": []
        },
        {
            "id": "MONDO:0010615",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010615",
            "categories": []
        },
        {
            "id": "MIM:307200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/307200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UW23-1",
            "uniprot_ac": "A0A8N7UW23",
            "uniprot_id": "A0A8N7UW23_DANRE",
            "refseq_ac": "XP_068074880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase BTK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "btk",
                    "type": "recommended"
                },
                {
                    "name": "btk",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UW23-1",
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                    "id": "0060875",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060875"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35991-1",
            "uniprot_ac": "P35991",
            "uniprot_id": "BTK_MOUSE",
            "refseq_ac": "NP_038510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase BTK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "ATK",
                    "type": "synonym"
                },
                {
                    "name": "Agammaglobulinemia tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "B-cell progenitor kinase",
                    "type": "synonym"
                },
                {
                    "name": "BPK",
                    "type": "synonym"
                },
                {
                    "name": "Bruton tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Bruton's tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Kinase EMB",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase BTK (Brutons tyrosine kinase) (Agammaglobulinaemia tyrosine kinase) (ATK) (B cell progenitor kinase) (BPK) (Kinase EMB)",
                    "type": "synonym"
                },
                {
                    "name": "X-linked immune deficiency",
                    "type": "synonym"
                },
                {
                    "name": "agammaglobulinaemia tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "agammaglobulinemia tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "bruton tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "kinase EMB",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase BTK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Btk",
                    "type": "recommended"
                },
                {
                    "name": "Bpk",
                    "type": "synonym"
                },
                {
                    "name": "Btk",
                    "type": "synonym"
                },
                {
                    "name": "xid",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060875",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060875"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06187-1",
            "uniprot_ac": "Q06187",
            "uniprot_id": "BTK_HUMAN",
            "refseq_ac": "NP_000052",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Tyrosine-protein kinase BTK",
                    "type": "recommended"
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                    "name": "2.7.10.2",
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                },
                {
                    "name": "ATK",
                    "type": "synonym"
                },
                {
                    "name": "Agammaglobulinemia tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "B-cell progenitor kinase",
                    "type": "synonym"
                },
                {
                    "name": "BPK",
                    "type": "synonym"
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                {
                    "name": "Bruton agammaglobulinemia tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Bruton tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Bruton's tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "agammaglobulinaemia tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "dominant-negative kinase-deficient Brutons tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase BTK isoform 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "BTK",
                    "type": "recommended"
                },
                {
                    "name": "AGMX1",
                    "type": "synonym"
                },
                {
                    "name": "ATK",
                    "type": "synonym"
                },
                {
                    "name": "AT",
                    "type": "synonym"
                },
                {
                    "name": "BPK",
                    "type": "synonym"
                },
                {
                    "name": "BTK",
                    "type": "synonym"
                },
                {
                    "name": "IGHD3",
                    "type": "synonym"
                },
                {
                    "name": "IMD1",
                    "type": "synonym"
                },
                {
                    "name": "PSCTK1",
                    "type": "synonym"
                },
                {
                    "name": "XLA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06187-1",
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                    "id": "307200",
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                    "url": "https://www.omim.org/entry/307200"
                },
                {
                    "id": "0060875",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060875"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K6M9-1",
            "uniprot_ac": "A0A0G2K6M9",
            "uniprot_id": "A0A0G2K6M9_RAT",
            "refseq_ac": "NP_001007799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase",
                    "type": "recommended"
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                    "name": "2.7.10.2",
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                    "name": "Bruton agammaglobulinemia tyrosine kinase",
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                    "name": "tyrosine-protein kinase BTK",
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                }
            ],
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                {
                    "name": "Btk",
                    "type": "recommended"
                },
                {
                    "name": "Btk",
                    "type": "synonym"
                }
            ],
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                    "id": "0060875",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060875"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08630-1",
            "uniprot_ac": "P08630",
            "uniprot_id": "BTKL_DROME",
            "refseq_ac": "NP_001097120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Btk",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "Btk family kinase at 29A",
                    "type": "synonym"
                },
                {
                    "name": "Btk-PF",
                    "type": "synonym"
                },
                {
                    "name": "Btk29A type 2",
                    "type": "synonym"
                },
                {
                    "name": "CG8049-PF",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc28C",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc29a",
                    "type": "synonym"
                },
                {
                    "name": "Src oncogene 29A",
                    "type": "synonym"
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                {
                    "name": "bruton tyrosine kinase, isoform F",
                    "type": "synonym"
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                {
                    "name": "fickle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Btk",
                    "type": "recommended"
                },
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                    "name": "Btk29A",
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                },
                {
                    "name": "Btk29a",
                    "type": "synonym"
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                    "name": "Btk29",
                    "type": "synonym"
                },
                {
                    "name": "Btk",
                    "type": "synonym"
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                {
                    "name": "C-src2",
                    "type": "synonym"
                },
                {
                    "name": "C-src4",
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                },
                {
                    "name": "CG18355",
                    "type": "synonym"
                },
                {
                    "name": "CG8049",
                    "type": "synonym"
                },
                {
                    "name": "CT2415",
                    "type": "synonym"
                },
                {
                    "name": "CT41718",
                    "type": "synonym"
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                {
                    "name": "DSrc28",
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                {
                    "name": "DTec29",
                    "type": "synonym"
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                {
                    "name": "Dm SRC2",
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                {
                    "name": "Dmel\\CG8049",
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                {
                    "name": "Dmel_CG8049",
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                    "name": "Dsrc28C",
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                },
                {
                    "name": "Dsrc29A",
                    "type": "synonym"
                },
                {
                    "name": "EC2-9",
                    "type": "synonym"
                },
                {
                    "name": "S13",
                    "type": "synonym"
                },
                {
                    "name": "SRC 29A",
                    "type": "synonym"
                },
                {
                    "name": "Src29A",
                    "type": "synonym"
                },
                {
                    "name": "Src2",
                    "type": "synonym"
                },
                {
                    "name": "Tec29A",
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                },
                {
                    "name": "Tec29",
                    "type": "synonym"
                },
                {
                    "name": "Tec",
                    "type": "synonym"
                },
                {
                    "name": "btk29A",
                    "type": "synonym"
                },
                {
                    "name": "btk29a",
                    "type": "synonym"
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                {
                    "name": "btk29",
                    "type": "synonym"
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                {
                    "name": "btk",
                    "type": "synonym"
                },
                {
                    "name": "c-src/fps",
                    "type": "synonym"
                },
                {
                    "name": "dsrc29A",
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                },
                {
                    "name": "fic",
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                },
                {
                    "name": "fps",
                    "type": "synonym"
                },
                {
                    "name": "src-4",
                    "type": "synonym"
                },
                {
                    "name": "src28C",
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                },
                {
                    "name": "src2",
                    "type": "synonym"
                },
                {
                    "name": "src4",
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                },
                {
                    "name": "tec29",
                    "type": "synonym"
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                {
                    "id": "0060875",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060875"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060875"
}