{
    "disease_id": "DOID:0050470",
    "recommended_name": {
        "id": "DOID:0050470",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050470",
        "name": "Donohue syndrome",
        "description": "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor."
    },
    "synonyms": [
        {
            "id": "DOID:0050470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050470",
            "name": "Leprechaunism",
            "description": ""
        },
        {
            "id": "MONDO:0009517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009517",
            "name": "Donohue syndrome",
            "description": "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation."
        },
        {
            "id": "MONDO:0009517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009517",
            "name": "Donohue syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009517",
            "name": "Leprechaunism",
            "description": ""
        },
        {
            "id": "MONDO:0009517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009517",
            "name": "leprechaunism",
            "description": ""
        },
        {
            "id": "MIM:246200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246200",
            "name": "Leprechaunism",
            "description": "Leprechaunism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050470"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050470",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050470",
            "categories": []
        },
        {
            "id": "MONDO:0009517",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009517",
            "categories": []
        },
        {
            "id": "MIM:246200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/246200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GDS8-1",
            "uniprot_ac": "A0AC58GDS8",
            "uniprot_id": "A0AC58GDS8_DANRE",
            "refseq_ac": "XP_073767884",
            "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 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "insra",
                    "type": "recommended"
                },
                {
                    "name": "IRa",
                    "type": "synonym"
                },
                {
                    "name": "insra",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GDS8-1",
            "evidence": [
                {
                    "id": "0050470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15208-1",
            "uniprot_ac": "P15208",
            "uniprot_id": "INSR_MOUSE",
            "refseq_ac": "NP_034698",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "IR",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor isoform A preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Insr",
                    "type": "recommended"
                },
                {
                    "name": "4932439J01Rik",
                    "type": "synonym"
                },
                {
                    "name": "CD220",
                    "type": "synonym"
                },
                {
                    "name": "D630014A15Rik",
                    "type": "synonym"
                },
                {
                    "name": "IR-A",
                    "type": "synonym"
                },
                {
                    "name": "IR-B",
                    "type": "synonym"
                },
                {
                    "name": "IR",
                    "type": "synonym"
                },
                {
                    "name": "Insr",
                    "type": "synonym"
                }
            ],
            "record_id": "P15208-1",
            "evidence": [
                {
                    "id": "0050470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06213-1",
            "uniprot_ac": "P06213",
            "uniprot_id": "INSR_HUMAN",
            "refseq_ac": "NP_000199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "IR",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor isoform Long preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INSR",
                    "type": "recommended"
                },
                {
                    "name": "CD220",
                    "type": "synonym"
                },
                {
                    "name": "HHF5",
                    "type": "synonym"
                },
                {
                    "name": "INSR",
                    "type": "synonym"
                }
            ],
            "record_id": "P06213-1",
            "evidence": [
                {
                    "id": "246200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/246200"
                },
                {
                    "id": "0050470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15127-1",
            "uniprot_ac": "P15127",
            "uniprot_id": "INSR_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "IR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Insr",
                    "type": "recommended"
                }
            ],
            "record_id": "P15127-1",
            "evidence": [
                {
                    "id": "0050470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09208-1",
            "uniprot_ac": "P09208",
            "uniprot_id": "INSR_DROME",
            "refseq_ac": "NP_001138093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG18402-PB",
                    "type": "synonym"
                },
                {
                    "name": "Igf-1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "InR-PB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin receptor homolog",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor free C-terminus",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor subunit beta 170 kDa form",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor subunit beta 90 kDa form",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like receptor, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Receptor protein-tyrosine kinase InR",
                    "type": "synonym"
                },
                {
                    "name": "beta170",
                    "type": "synonym"
                },
                {
                    "name": "beta90",
                    "type": "synonym"
                },
                {
                    "name": "dIRH",
                    "type": "synonym"
                },
                {
                    "name": "dIR",
                    "type": "synonym"
                },
                {
                    "name": "dInr",
                    "type": "synonym"
                },
                {
                    "name": "dmIR",
                    "type": "synonym"
                },
                {
                    "name": "drosophila insulin receptor",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor homologue",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor homolog",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like receptor tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like receptor",
                    "type": "synonym"
                },
                {
                    "name": "insulin/IGF receptor",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)93Dj",
                    "type": "synonym"
                },
                {
                    "name": "sprout",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "InR",
                    "type": "recommended"
                },
                {
                    "name": "18402",
                    "type": "synonym"
                },
                {
                    "name": "CG18402",
                    "type": "synonym"
                },
                {
                    "name": "DIHR",
                    "type": "synonym"
                },
                {
                    "name": "DILR",
                    "type": "synonym"
                },
                {
                    "name": "DIRH",
                    "type": "synonym"
                },
                {
                    "name": "DIRbeta",
                    "type": "synonym"
                },
                {
                    "name": "DIR",
                    "type": "synonym"
                },
                {
                    "name": "DInR",
                    "type": "synonym"
                },
                {
                    "name": "DInr",
                    "type": "synonym"
                },
                {
                    "name": "Dir-a",
                    "type": "synonym"
                },
                {
                    "name": "Dir-b",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18402",
                    "type": "synonym"
                },
                {
                    "name": "INR",
                    "type": "synonym"
                },
                {
                    "name": "INS",
                    "type": "synonym"
                },
                {
                    "name": "IR",
                    "type": "synonym"
                },
                {
                    "name": "Igfr1",
                    "type": "synonym"
                },
                {
                    "name": "InR",
                    "type": "synonym"
                },
                {
                    "name": "Inr-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Inr-a",
                    "type": "synonym"
                },
                {
                    "name": "Inr-beta",
                    "type": "synonym"
                },
                {
                    "name": "Inr",
                    "type": "synonym"
                },
                {
                    "name": "InsR",
                    "type": "synonym"
                },
                {
                    "name": "RTK",
                    "type": "synonym"
                },
                {
                    "name": "dINR",
                    "type": "synonym"
                },
                {
                    "name": "dINSR",
                    "type": "synonym"
                },
                {
                    "name": "dIRH",
                    "type": "synonym"
                },
                {
                    "name": "dIR",
                    "type": "synonym"
                },
                {
                    "name": "dInR",
                    "type": "synonym"
                },
                {
                    "name": "dInr",
                    "type": "synonym"
                },
                {
                    "name": "dInsR",
                    "type": "synonym"
                },
                {
                    "name": "dinR",
                    "type": "synonym"
                },
                {
                    "name": "dinr",
                    "type": "synonym"
                },
                {
                    "name": "dir",
                    "type": "synonym"
                },
                {
                    "name": "er10",
                    "type": "synonym"
                },
                {
                    "name": "inR",
                    "type": "synonym"
                },
                {
                    "name": "inr",
                    "type": "synonym"
                },
                {
                    "name": "insulin/insulin-like growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05545",
                    "type": "synonym"
                },
                {
                    "name": "l(3)93Dj",
                    "type": "synonym"
                },
                {
                    "name": "l(3)er10",
                    "type": "synonym"
                },
                {
                    "name": "lnR",
                    "type": "synonym"
                },
                {
                    "name": "sprout",
                    "type": "synonym"
                }
            ],
            "record_id": "P09208-1",
            "evidence": [
                {
                    "id": "0050470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92988-1",
            "uniprot_ac": "Q92988",
            "uniprot_id": "DLX4_HUMAN",
            "refseq_ac": "NP_001925",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein DLX-4",
                    "type": "recommended"
                },
                {
                    "name": "Beta protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein DLX-7",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein DLX-8",
                    "type": "synonym"
                },
                {
                    "name": "beta protein 1",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeo box 7",
                    "type": "synonym"
                },
                {
                    "name": "distal-less homeo box 9",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-4",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-7",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein DLX-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLX4",
                    "type": "recommended"
                },
                {
                    "name": "BP1",
                    "type": "synonym"
                },
                {
                    "name": "DLX4",
                    "type": "synonym"
                },
                {
                    "name": "DLX7",
                    "type": "synonym"
                },
                {
                    "name": "DLX8",
                    "type": "synonym"
                },
                {
                    "name": "DLX9",
                    "type": "synonym"
                },
                {
                    "name": "OFC15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92988-1",
            "evidence": [
                {
                    "id": "0050470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050470"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050470"
}