{
    "disease_id": "DOID:0080837",
    "recommended_name": {
        "id": "DOID:0080837",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080837",
        "name": "growth hormone insensitivity syndrome with immune dysregulation 2",
        "description": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0100219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100219",
            "name": "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0100219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100219",
            "name": "GHISID2",
            "description": ""
        },
        {
            "id": "MONDO:0100219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100219",
            "name": "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT",
            "description": ""
        },
        {
            "id": "MONDO:0100219",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100219",
            "name": "growth hormone insensitivity with immune dysregulation 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:618985",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618985",
            "name": "Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",
            "description": "Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080837"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080837",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080837",
            "categories": []
        },
        {
            "id": "MONDO:0100219",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100219",
            "categories": []
        },
        {
            "id": "MIM:618985",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618985",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N205-1",
            "uniprot_ac": "A0A8M1N205",
            "uniprot_id": "A0A8M1N205_DANRE",
            "refseq_ac": "NP_001003984",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription",
                    "type": "recommended"
                },
                {
                    "name": "signal transducer and activator of transcription 5.2",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 5B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stat5b",
                    "type": "recommended"
                },
                {
                    "name": "stat5.2",
                    "type": "synonym"
                },
                {
                    "name": "stat5b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N205-1",
            "evidence": [
                {
                    "id": "0080837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42232-1",
            "uniprot_ac": "P42232",
            "uniprot_id": "STA5B_MOUSE",
            "refseq_ac": "NP_001107035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription 5B",
                    "type": "recommended"
                },
                {
                    "name": "mammary gland factor STAT5B",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 5B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat5b",
                    "type": "recommended"
                },
                {
                    "name": "Stat5b",
                    "type": "synonym"
                }
            ],
            "record_id": "P42232-1",
            "evidence": [
                {
                    "id": "0080837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51692-1",
            "uniprot_ac": "P51692",
            "uniprot_id": "STA5B_HUMAN",
            "refseq_ac": "NP_036580",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription 5B",
                    "type": "recommended"
                },
                {
                    "name": "signal transducer and activator of transcription 5B",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor STAT5B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAT5B",
                    "type": "recommended"
                },
                {
                    "name": "GHISID2",
                    "type": "synonym"
                },
                {
                    "name": "STAT5B",
                    "type": "synonym"
                },
                {
                    "name": "STAT5",
                    "type": "synonym"
                }
            ],
            "record_id": "P51692-1",
            "evidence": [
                {
                    "id": "618985",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618985"
                },
                {
                    "id": "0080837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52632-1",
            "uniprot_ac": "P52632",
            "uniprot_id": "STA5B_RAT",
            "refseq_ac": "NP_071775",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and activator of transcription 5B",
                    "type": "recommended"
                },
                {
                    "name": "Signal transducer and activator of transcription 5a",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription 5B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat5b",
                    "type": "recommended"
                },
                {
                    "name": "Stat5b",
                    "type": "synonym"
                }
            ],
            "record_id": "P52632-1",
            "evidence": [
                {
                    "id": "0080837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24151-1",
            "uniprot_ac": "Q24151",
            "uniprot_id": "STAT_DROME",
            "refseq_ac": "NP_001014643",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal transducer and transcription activator",
                    "type": "recommended"
                },
                {
                    "name": "CG4257-PG",
                    "type": "synonym"
                },
                {
                    "name": "Protein marelle",
                    "type": "synonym"
                },
                {
                    "name": "Signal-transducer and activator of transcription protein at 92E, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Signal-transducer and activator of transcription protein",
                    "type": "synonym"
                },
                {
                    "name": "Stat92E-PG",
                    "type": "synonym"
                },
                {
                    "name": "d-STAT",
                    "type": "synonym"
                },
                {
                    "name": "marelle",
                    "type": "synonym"
                },
                {
                    "name": "signal transducer and activator of transcription",
                    "type": "synonym"
                },
                {
                    "name": "signal transducers and activator of transcription",
                    "type": "synonym"
                },
                {
                    "name": "stat92E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stat92E",
                    "type": "recommended"
                },
                {
                    "name": "CG4257",
                    "type": "synonym"
                },
                {
                    "name": "D-STAT",
                    "type": "synonym"
                },
                {
                    "name": "D-Stat",
                    "type": "synonym"
                },
                {
                    "name": "D-stat/stat92E",
                    "type": "synonym"
                },
                {
                    "name": "D-stat",
                    "type": "synonym"
                },
                {
                    "name": "DRODSRC",
                    "type": "synonym"
                },
                {
                    "name": "DSRC",
                    "type": "synonym"
                },
                {
                    "name": "DSTAT",
                    "type": "synonym"
                },
                {
                    "name": "DmSTAT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4257",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4257",
                    "type": "synonym"
                },
                {
                    "name": "Dstat 92E",
                    "type": "synonym"
                },
                {
                    "name": "Dstat92E",
                    "type": "synonym"
                },
                {
                    "name": "Dstat",
                    "type": "synonym"
                },
                {
                    "name": "Dst",
                    "type": "synonym"
                },
                {
                    "name": "MARE",
                    "type": "synonym"
                },
                {
                    "name": "SD-stat",
                    "type": "synonym"
                },
                {
                    "name": "STAT 92E",
                    "type": "synonym"
                },
                {
                    "name": "STAT92E",
                    "type": "synonym"
                },
                {
                    "name": "STAT92e",
                    "type": "synonym"
                },
                {
                    "name": "STAT92",
                    "type": "synonym"
                },
                {
                    "name": "STAT",
                    "type": "synonym"
                },
                {
                    "name": "Sta92E",
                    "type": "synonym"
                },
                {
                    "name": "Stat1alpha-like",
                    "type": "synonym"
                },
                {
                    "name": "Stat92E",
                    "type": "synonym"
                },
                {
                    "name": "Stat92e",
                    "type": "synonym"
                },
                {
                    "name": "Stat92",
                    "type": "synonym"
                },
                {
                    "name": "Stat9E",
                    "type": "synonym"
                },
                {
                    "name": "Stat",
                    "type": "synonym"
                },
                {
                    "name": "d-STAT",
                    "type": "synonym"
                },
                {
                    "name": "dSTAT92E/marelle",
                    "type": "synonym"
                },
                {
                    "name": "dSTAT92E",
                    "type": "synonym"
                },
                {
                    "name": "dSTAT",
                    "type": "synonym"
                },
                {
                    "name": "dstat",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06346",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j6C8",
                    "type": "synonym"
                },
                {
                    "name": "marelle",
                    "type": "synonym"
                },
                {
                    "name": "mrL",
                    "type": "synonym"
                },
                {
                    "name": "mrl stat92E",
                    "type": "synonym"
                },
                {
                    "name": "mrl",
                    "type": "synonym"
                },
                {
                    "name": "pSTAT92E",
                    "type": "synonym"
                },
                {
                    "name": "pSTAT",
                    "type": "synonym"
                },
                {
                    "name": "stat92E",
                    "type": "synonym"
                },
                {
                    "name": "stat92e",
                    "type": "synonym"
                },
                {
                    "name": "stat92",
                    "type": "synonym"
                },
                {
                    "name": "stat[92E]",
                    "type": "synonym"
                },
                {
                    "name": "stat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24151-1",
            "evidence": [
                {
                    "id": "0080837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06828-1",
            "uniprot_ac": "Q06828",
            "uniprot_id": "FMOD_HUMAN",
            "refseq_ac": "NP_002014",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibromodulin",
                    "type": "recommended"
                },
                {
                    "name": "Collagen-binding 59 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "FM",
                    "type": "synonym"
                },
                {
                    "name": "KSPG fibromodulin",
                    "type": "synonym"
                },
                {
                    "name": "Keratan sulfate proteoglycan fibromodulin",
                    "type": "synonym"
                },
                {
                    "name": "collagen-binding 59 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fibromodulin precursor",
                    "type": "synonym"
                },
                {
                    "name": "keratan sulfate proteoglycan fibromodulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FMOD",
                    "type": "recommended"
                },
                {
                    "name": "FMOD",
                    "type": "synonym"
                },
                {
                    "name": "FM",
                    "type": "synonym"
                },
                {
                    "name": "SLRR2E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06828-1",
            "evidence": [
                {
                    "id": "0080837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080837"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080837"
}