{
    "disease_id": "DOID:0111588",
    "recommended_name": {
        "id": "DOID:0111588",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111588",
        "name": "Greenberg dysplasia",
        "description": "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "name": "GRBGD",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "name": "Greenberg skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "name": "HEM dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "name": "Skeletal dysplasia, Greenberg type",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "name": "hydrops-ectopic calcification-motheaten syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "name": "hydrops, ectopic calcification, moth-eaten skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "name": "autosomal recessive lethal chondrodystrophy with congenital hydrops",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "Greenberg dysplasia",
            "description": "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable."
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "Greenberg dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hem dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hydrops-ectopic calcification-motheaten syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "skeletal dysplasia, Greenberg type",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "GRBGD",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "Greenberg skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "autosomal recessive lethal chondrodystrophy with congenital hydrops",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hem",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hem/Greenberg dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hydrops, ectopic calcification, moth-eaten skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:215140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/215140",
            "name": "Greenberg dysplasia",
            "description": "Greenberg dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111588"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111588",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111588",
            "categories": []
        },
        {
            "id": "MONDO:0008974",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "categories": []
        },
        {
            "id": "MIM:215140",
            "database": "MIM",
            "url": "https://www.omim.org/entry/215140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PP65-1",
            "uniprot_ac": "A0A8M9PP65",
            "uniprot_id": "A0A8M9PP65_DANRE",
            "refseq_ac": "XP_021324046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(14)-sterol reductase LBR",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.70",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol Delta (14)-reductase",
                    "type": "synonym"
                },
                {
                    "name": "C-14 sterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "Integral nuclear envelope inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sterol C14-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(14)-sterol reductase LBR isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lbr",
                    "type": "recommended"
                },
                {
                    "name": "lbr",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb406",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb75h08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc47b04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd36b07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86649",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PP65-1",
            "evidence": [
                {
                    "id": "0111588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U9G9-1",
            "uniprot_ac": "Q3U9G9",
            "uniprot_id": "LBR_MOUSE",
            "refseq_ac": "NP_598576",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(14)-sterol reductase LBR",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.70",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol Delta (14)-reductase",
                    "type": "synonym"
                },
                {
                    "name": "C-14 sterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "C14SR",
                    "type": "synonym"
                },
                {
                    "name": "Delta-14-SR",
                    "type": "synonym"
                },
                {
                    "name": "Integral nuclear envelope inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sterol C14-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(14)-sterol reductase LBR isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "delta(14)-sterol reductase LBR",
                    "type": "synonym"
                },
                {
                    "name": "delta-14-SR",
                    "type": "synonym"
                },
                {
                    "name": "ichthyosis",
                    "type": "synonym"
                },
                {
                    "name": "integral nuclear envelope inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "sterol C14-reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lbr",
                    "type": "recommended"
                },
                {
                    "name": "C14SR",
                    "type": "synonym"
                },
                {
                    "name": "Lbr",
                    "type": "synonym"
                },
                {
                    "name": "ic",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U9G9-1",
            "evidence": [
                {
                    "id": "0111588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14739-1",
            "uniprot_ac": "Q14739",
            "uniprot_id": "LBR_HUMAN",
            "refseq_ac": "NP_002287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(14)-sterol reductase LBR",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.70",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol Delta (14)-reductase",
                    "type": "synonym"
                },
                {
                    "name": "C-14 sterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "C14SR",
                    "type": "synonym"
                },
                {
                    "name": "Delta-14-SR",
                    "type": "synonym"
                },
                {
                    "name": "Integral nuclear envelope inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "LMN2R",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sterol C14-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(14)-sterol reductase LBR",
                    "type": "synonym"
                },
                {
                    "name": "delta-14-SR",
                    "type": "synonym"
                },
                {
                    "name": "integral nuclear envelope inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "sterol C14-reductase",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain containing 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LBR",
                    "type": "recommended"
                },
                {
                    "name": "C14SR",
                    "type": "synonym"
                },
                {
                    "name": "DHCR14B",
                    "type": "synonym"
                },
                {
                    "name": "LBR",
                    "type": "synonym"
                },
                {
                    "name": "LMN2R",
                    "type": "synonym"
                },
                {
                    "name": "PHASK",
                    "type": "synonym"
                },
                {
                    "name": "PHA",
                    "type": "synonym"
                },
                {
                    "name": "TDRD18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14739-1",
            "evidence": [
                {
                    "id": "215140",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/215140"
                },
                {
                    "id": "0111588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32462-1",
            "uniprot_ac": "P32462",
            "uniprot_id": "ERG24_YEAST",
            "refseq_ac": "NP_014119",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta(14)-sterol reductase ERG24",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.70",
                    "type": "synonym"
                },
                {
                    "name": "C-14 sterol reductase ERG24",
                    "type": "synonym"
                },
                {
                    "name": "Ergosterol biosynthetic protein 24",
                    "type": "synonym"
                },
                {
                    "name": "Sterol C14-reductase ERG24",
                    "type": "synonym"
                },
                {
                    "name": "delta(14)-sterol reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG24",
                    "type": "recommended"
                },
                {
                    "name": "ERG24",
                    "type": "synonym"
                },
                {
                    "name": "N0593",
                    "type": "synonym"
                }
            ],
            "record_id": "P32462-1",
            "evidence": [
                {
                    "id": "0111588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08984-1",
            "uniprot_ac": "O08984",
            "uniprot_id": "LBR_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": "Delta(14)-sterol reductase LBR",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.70",
                    "type": "synonym"
                },
                {
                    "name": "3-beta-hydroxysterol Delta (14)-reductase",
                    "type": "synonym"
                },
                {
                    "name": "C-14 sterol reductase",
                    "type": "synonym"
                },
                {
                    "name": "C14SR",
                    "type": "synonym"
                },
                {
                    "name": "Delta-14-SR",
                    "type": "synonym"
                },
                {
                    "name": "Integral nuclear envelope inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "NBP60",
                    "type": "synonym"
                },
                {
                    "name": "Sterol C14-reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07021955.1",
                    "type": "recommended"
                },
                {
                    "name": "Lbr",
                    "type": "recommended"
                },
                {
                    "name": "AABR07021955.1",
                    "type": "synonym"
                },
                {
                    "name": "Lbr",
                    "type": "synonym"
                }
            ],
            "record_id": "O08984-1",
            "evidence": [
                {
                    "id": "0111588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MLV1-1",
            "uniprot_ac": "Q8MLV1",
            "uniprot_id": "LBR_DROME",
            "refseq_ac": "NP_611608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B receptor",
                    "type": "recommended"
                },
                {
                    "name": "CG17952-PA",
                    "type": "synonym"
                },
                {
                    "name": "LBR-PA",
                    "type": "synonym"
                },
                {
                    "name": "dLBR",
                    "type": "synonym"
                },
                {
                    "name": "lamin B receptor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "lamin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "lamin-B receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LBR",
                    "type": "recommended"
                },
                {
                    "name": "CG17952",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17952",
                    "type": "synonym"
                },
                {
                    "name": "LBR",
                    "type": "synonym"
                },
                {
                    "name": "dLBR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MLV1-1",
            "evidence": [
                {
                    "id": "0111588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111588"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111588"
}