{
    "disease_id": "DOID:0111350",
    "recommended_name": {
        "id": "DOID:0111350",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111350",
        "name": "Laurin-Sandrow syndrome",
        "description": "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "name": "MIPduplication of fibuland ulna with absence of tibia and radius",
            "description": ""
        },
        {
            "id": "DOID:0111350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "name": "Sandrow syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "name": "TMIP",
            "description": ""
        },
        {
            "id": "DOID:0111350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "name": "miccor hands and feet with nasal defects",
            "description": ""
        },
        {
            "id": "DOID:0111350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "name": "mirror hands and feets-nasal defects syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "name": "mirror-image polydactyly",
            "description": ""
        },
        {
            "id": "DOID:0111350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "name": "tetramelic mirror-image polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "name": "laurin-Sandrow syndrome",
            "description": "Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested."
        },
        {
            "id": "MONDO:0007615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "name": "Sandrow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "name": "laurin-Sandrow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "name": "mirror hands and feets-nasal defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "name": "LSS",
            "description": ""
        },
        {
            "id": "MONDO:0007615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "name": "fibula ulna duplication tibia radius absence",
            "description": ""
        },
        {
            "id": "MONDO:0007615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "name": "laurin Sandrow syndrome",
            "description": ""
        },
        {
            "id": "MIM:135750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/135750",
            "name": "Laurin-Sandrow syndrome",
            "description": "Laurin-Sandrow syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111350"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111350",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111350",
            "categories": []
        },
        {
            "id": "MONDO:0007615",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007615",
            "categories": []
        },
        {
            "id": "MIM:135750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/135750",
            "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": "0111350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111350"
                }
            ]
        },
        {
            "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": "0111350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15465-1",
            "uniprot_ac": "Q15465",
            "uniprot_id": "SHH_HUMAN",
            "refseq_ac": "NP_000184",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sonic hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HHG-1",
                    "type": "synonym"
                },
                {
                    "name": "SHH signaling molecule",
                    "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 isoform 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHH",
                    "type": "recommended"
                },
                {
                    "name": "HHG1",
                    "type": "synonym"
                },
                {
                    "name": "HLP3",
                    "type": "synonym"
                },
                {
                    "name": "HPE3",
                    "type": "synonym"
                },
                {
                    "name": "MCOPCB5",
                    "type": "synonym"
                },
                {
                    "name": "SHH",
                    "type": "synonym"
                },
                {
                    "name": "SMMCI",
                    "type": "synonym"
                },
                {
                    "name": "ShhNC",
                    "type": "synonym"
                },
                {
                    "name": "TPTPS",
                    "type": "synonym"
                },
                {
                    "name": "TPT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15465-1",
            "evidence": [
                {
                    "id": "135750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/135750"
                }
            ]
        },
        {
            "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": "135750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/135750"
                },
                {
                    "id": "0111350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111350"
                }
            ]
        },
        {
            "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": "0111350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111350"
                }
            ]
        },
        {
            "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": "0111350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111350"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111350"
}