{
    "disease_id": "DOID:0111818",
    "recommended_name": {
        "id": "DOID:0111818",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111818",
        "name": "syndactyly type 4",
        "description": "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111818",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111818",
            "name": "Haas type syndactyly",
            "description": ""
        },
        {
            "id": "DOID:0111818",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111818",
            "name": "SDTY4",
            "description": ""
        },
        {
            "id": "DOID:0111818",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111818",
            "name": "polysyndactyly, Haas type",
            "description": ""
        },
        {
            "id": "MONDO:0008515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "name": "syndactyly type 4",
            "description": "A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)."
        },
        {
            "id": "MONDO:0008515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "name": "LMBR1 non-syndromic syndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0008515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "name": "non-syndromic syndactyly caused by mutation in LMBR1",
            "description": ""
        },
        {
            "id": "MONDO:0008515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "name": "polysyndactyly, Haas type",
            "description": ""
        },
        {
            "id": "MONDO:0008515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "name": "SDTY4",
            "description": ""
        },
        {
            "id": "MONDO:0008515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "name": "polysyndactyly type Haas",
            "description": ""
        },
        {
            "id": "MONDO:0008515",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "name": "syndactyly, type IV",
            "description": ""
        },
        {
            "id": "MIM:186200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/186200",
            "name": "Syndactyly 4",
            "description": "Syndactyly 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111818"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111818",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111818",
            "categories": []
        },
        {
            "id": "MONDO:0008515",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008515",
            "categories": []
        },
        {
            "id": "MIM:186200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/186200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDY2-1",
            "uniprot_ac": "A0A8M2BDY2",
            "uniprot_id": "A0A8M2BDY2_DANRE",
            "refseq_ac": "XP_005166487",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Limb region 1 protein homolog isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "limb region 1 protein homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lmbr1",
                    "type": "recommended"
                },
                {
                    "name": "im:7156444",
                    "type": "synonym"
                },
                {
                    "name": "lmbr1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDY2-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q90419-1",
            "uniprot_ac": "Q90419",
            "uniprot_id": "TWHH_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": "Tiggy-winkle hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "SHHB",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "ShhN",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein B",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein N-product",
                    "type": "synonym"
                },
                {
                    "name": "TWHH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shhb",
                    "type": "recommended"
                },
                {
                    "name": "twhh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90419-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92008-1",
            "uniprot_ac": "Q92008",
            "uniprot_id": "SHH_DANRE",
            "refseq_ac": "NP_571138",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sonic hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "SHHA",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "ShhN",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein N-product",
                    "type": "synonym"
                },
                {
                    "name": "VHH-1",
                    "type": "synonym"
                },
                {
                    "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog a",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein A",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "sonic-you",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shha",
                    "type": "recommended"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "fc83d08",
                    "type": "synonym"
                },
                {
                    "name": "shha",
                    "type": "synonym"
                },
                {
                    "name": "shh",
                    "type": "synonym"
                },
                {
                    "name": "syu",
                    "type": "synonym"
                },
                {
                    "name": "vhh-1",
                    "type": "synonym"
                },
                {
                    "name": "vhh1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc83d08",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92008-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIT0-1",
            "uniprot_ac": "Q9JIT0",
            "uniprot_id": "LMBR1_MOUSE",
            "refseq_ac": "NP_064691",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Limb region 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "limb region 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmbr1",
                    "type": "recommended"
                },
                {
                    "name": "1110048D14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lmbr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIT0-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62226-1",
            "uniprot_ac": "Q62226",
            "uniprot_id": "SHH_MOUSE",
            "refseq_ac": "NP_033196",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sonic hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HHG-1",
                    "type": "synonym"
                },
                {
                    "name": "SHH",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocfretinaessing domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "Sonic hedgehog protein 19 kDa product",
                    "type": "synonym"
                },
                {
                    "name": "hemimelic extra toes",
                    "type": "synonym"
                },
                {
                    "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "short digits",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shh",
                    "type": "recommended"
                },
                {
                    "name": "9530036O11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dsh",
                    "type": "synonym"
                },
                {
                    "name": "HHG-1",
                    "type": "synonym"
                },
                {
                    "name": "Hhg1",
                    "type": "synonym"
                },
                {
                    "name": "Hxl3",
                    "type": "synonym"
                },
                {
                    "name": "Hx",
                    "type": "synonym"
                },
                {
                    "name": "M100081",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "Shh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62226-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVP7-1",
            "uniprot_ac": "Q8WVP7",
            "uniprot_id": "LMBR1_HUMAN",
            "refseq_ac": "NP_071903",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Limb region 1 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Differentiation-related gene 14 protein",
                    "type": "synonym"
                },
                {
                    "name": "differentiation-related gene 14 protein",
                    "type": "synonym"
                },
                {
                    "name": "limb region 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "limb region 1 protein homolog isoform b",
                    "type": "synonym"
                },
                {
                    "name": "limb region 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMBR1",
                    "type": "recommended"
                },
                {
                    "name": "ACHP",
                    "type": "synonym"
                },
                {
                    "name": "C7orf2",
                    "type": "synonym"
                },
                {
                    "name": "DIF14",
                    "type": "synonym"
                },
                {
                    "name": "LMBR1",
                    "type": "synonym"
                },
                {
                    "name": "PPD2",
                    "type": "synonym"
                },
                {
                    "name": "THYP",
                    "type": "synonym"
                },
                {
                    "name": "TPTPS",
                    "type": "synonym"
                },
                {
                    "name": "TPT",
                    "type": "synonym"
                },
                {
                    "name": "ZRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVP7-1",
            "evidence": [
                {
                    "id": "186200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/186200"
                },
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K4B6-1",
            "uniprot_ac": "A0A0G2K4B6",
            "uniprot_id": "A0A0G2K4B6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Limb development membrane protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmbr1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K4B6-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63673-1",
            "uniprot_ac": "Q63673",
            "uniprot_id": "SHH_RAT",
            "refseq_ac": "NP_058917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sonic hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "SHH",
                    "type": "synonym"
                },
                {
                    "name": "Shh N-terminal processed signaling domains",
                    "type": "synonym"
                },
                {
                    "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "ShhNp",
                    "type": "synonym"
                },
                {
                    "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog homolog",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "sonic hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shh",
                    "type": "recommended"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "Shh",
                    "type": "synonym"
                },
                {
                    "name": "Vhh-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63673-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC35-1",
            "uniprot_ac": "Q9VC35",
            "uniprot_id": "LILI_DROME",
            "refseq_ac": "NP_651290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Lilipod",
                    "type": "recommended"
                },
                {
                    "name": "CG5807-PA",
                    "type": "synonym"
                },
                {
                    "name": "LIMR-like promoter of ovarian dpp",
                    "type": "synonym"
                },
                {
                    "name": "lili-PA",
                    "type": "synonym"
                },
                {
                    "name": "lilipod, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "lilipod",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lili",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH12663",
                    "type": "synonym"
                },
                {
                    "name": "CG5807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5807",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.355",
                    "type": "synonym"
                },
                {
                    "name": "lili",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC35-1",
            "evidence": [
                {
                    "id": "0111818",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG4637-PB",
                    "type": "synonym"
                },
                {
                    "name": "PKC",
                    "type": "synonym"
                },
                {
                    "name": "atypical",
                    "type": "synonym"
                },
                {
                    "name": "bar-on-3",
                    "type": "synonym"
                },
                {
                    "name": "hedgehog",
                    "type": "synonym"
                },
                {
                    "name": "hedghog",
                    "type": "synonym"
                },
                {
                    "name": "hh-PB",
                    "type": "synonym"
                },
                {
                    "name": "mirabile",
                    "type": "synonym"
                },
                {
                    "name": "moonrat",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hh",
                    "type": "recommended"
                },
                {
                    "name": "CG4637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4637",
                    "type": "synonym"
                },
                {
                    "name": "Dmhh",
                    "type": "synonym"
                },
                {
                    "name": "HH",
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                },
                {
                    "name": "Hg",
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                },
                {
                    "name": "Hh",
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                },
                {
                    "name": "Mir",
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                },
                {
                    "name": "Mrt",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0134654.19",
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                {
                    "name": "anon-WO0182946.19",
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                {
                    "name": "bar-3",
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                },
                {
                    "name": "bar3",
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                {
                    "name": "bar",
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                {
                    "name": "hg",
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                },
                {
                    "name": "hh",
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                {
                    "name": "l(3)hh",
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                },
                {
                    "name": "l(3)neo56",
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                },
                {
                    "name": "l(3)neo57",
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            ],
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                {
                    "id": "0111818",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O60258-1",
            "uniprot_ac": "O60258",
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            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 17",
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                    "name": "FGF-17",
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                {
                    "name": "fibroblast growth factor 17 isoform 2 precursor",
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                    "name": "FGF17",
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                    "name": "FGF-13",
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                {
                    "name": "FGF-17",
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                {
                    "name": "FGF17",
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                    "name": "PRO187",
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                {
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                {
                    "name": "SHH signaling molecule",
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                {
                    "name": "SHH",
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                {
                    "name": "Shh N-terminal processed signaling domains",
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                },
                {
                    "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
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                },
                {
                    "name": "ShhNC",
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                {
                    "name": "ShhNp",
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                {
                    "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains",
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                {
                    "name": "sonic hedgehog homolog",
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                {
                    "name": "sonic hedgehog protein isoform 1 preproprotein",
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                    "name": "SHH",
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                    "name": "HHG1",
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                },
                {
                    "name": "HLP3",
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                {
                    "name": "HPE3",
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                {
                    "name": "MCOPCB5",
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                {
                    "name": "SHH",
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                {
                    "name": "SMMCI",
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                {
                    "name": "ShhNC",
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                {
                    "name": "TPTPS",
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                {
                    "name": "TPT",
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            ],
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                    "id": "0111818",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111818"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111818"
}