{
    "disease_id": "DOID:0051055",
    "recommended_name": {
        "id": "DOID:0051055",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051055",
        "name": "46,XY gonadal dysgenesis with minifascicular neuropathy",
        "description": "A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH)."
    },
    "synonyms": [
        {
            "id": "MONDO:0011766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011766",
            "name": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011766",
            "name": "46XY gonadal dysgenesis with minifascicular neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011766",
            "name": "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy",
            "description": ""
        },
        {
            "id": "MIM:607080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607080",
            "name": "46,XY gonadal dysgenesis with minifascicular neuropathy",
            "description": "46,XY gonadal dysgenesis with minifascicular neuropathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051055",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051055",
            "categories": []
        },
        {
            "id": "MONDO:0011766",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011766",
            "categories": []
        },
        {
            "id": "MIM:607080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q02936-1",
            "uniprot_ac": "Q02936",
            "uniprot_id": "HH_DROME",
            "refseq_ac": "NP_001034065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein hedgehog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG4637-PB; hh-PB; hedghog; atypical; bar-on-3; mirabile; PKC; moonrat",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hedgehog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hh",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG4637",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0134654.19; anon-WO0182946.19; bar; bar-3; bar3; CG4637; Dmel\\CG4637; Dmhh; hg; Hg; Hh; HH; l(3)hh; l(3)neo56; l(3)neo57; Mir; Mrt",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hh",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051055",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61488-1",
            "uniprot_ac": "Q61488",
            "uniprot_id": "DHH_MOUSE",
            "refseq_ac": "NP_031883",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desert hedgehog protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DHH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HHG-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "desert hedgehog protein preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "desert hedgehog protein; HHG-3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhh",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Dhh",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051055",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43323-1",
            "uniprot_ac": "O43323",
            "uniprot_id": "DHH_HUMAN",
            "refseq_ac": "NP_066382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desert hedgehog protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DHH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HHG-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "desert hedgehog protein preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "desert hedgehog protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHH",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DHH",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GDMN; GDXYM; HHG-3; SRXY7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051055",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051055"
                },
                {
                    "id": "607080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P79729-1",
            "uniprot_ac": "P79729",
            "uniprot_id": "DHH_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desert hedgehog protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DHH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dhh",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "sb:eu600",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051055",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7Y0-1",
            "uniprot_ac": "G3V7Y0",
            "uniprot_id": "G3V7Y0_RAT",
            "refseq_ac": "NP_445819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hedgehog protein",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "desert hedgehog protein precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhh",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Dhh",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051055",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70499-1",
            "uniprot_ac": "P70499",
            "uniprot_id": "IFNB_RAT",
            "refseq_ac": "NP_062000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon beta",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "IFN-beta; interferon beta 1, fibroblast; interferon 1da1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IFN-beta",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "interferon beta precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifnb1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "If1da1; Ifnb",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ifnb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ifnb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051055",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051055"
}