{
    "disease_id": "DOID:0050603",
    "recommended_name": {
        "id": "DOID:0050603",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050603",
        "name": "acheiropody",
        "description": "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050603",
            "name": "Acheiropodia",
            "description": ""
        },
        {
            "id": "DOID:0050603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050603",
            "name": "Horn-Kolb Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008700",
            "name": "acheiropody",
            "description": "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance."
        },
        {
            "id": "MONDO:0008700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008700",
            "name": "acheiropodia",
            "description": ""
        },
        {
            "id": "MONDO:0008700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008700",
            "name": "acheiropody",
            "description": ""
        },
        {
            "id": "MONDO:0008700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008700",
            "name": "ACHP",
            "description": ""
        },
        {
            "id": "MIM:200500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200500",
            "name": "Acheiropody",
            "description": "Acheiropody"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050603"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050603",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050603",
            "categories": []
        },
        {
            "id": "MONDO:0008700",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008700",
            "categories": []
        },
        {
            "id": "MIM:200500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/200500",
            "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": "0050603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050603"
                }
            ]
        },
        {
            "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": "0050603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050603"
                }
            ]
        },
        {
            "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": "200500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/200500"
                },
                {
                    "id": "0050603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050603"
                }
            ]
        },
        {
            "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": "0050603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050603"
                }
            ]
        },
        {
            "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": "0050603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050603"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050603"
}