{
    "disease_id": "DOID:0050775",
    "recommended_name": {
        "id": "DOID:0050775",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050775",
        "name": "schneckenbecken dysplasia",
        "description": "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "schneckenbecken dysplasia",
            "description": "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia."
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "SLC35D1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "chondrodysplasia with snail-like pelvis",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "schneckenbecken dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "SHNKND",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "chondrodysplasia lethal neonatal with snail like pelvis",
            "description": ""
        },
        {
            "id": "MIM:269250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269250",
            "name": "Schneckenbecken dysplasia",
            "description": "Schneckenbecken dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050775"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050775",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050775",
            "categories": []
        },
        {
            "id": "MONDO:0010013",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "categories": []
        },
        {
            "id": "MIM:269250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/269250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9NTN3-1",
            "uniprot_ac": "Q9NTN3",
            "uniprot_id": "S35D1_HUMAN",
            "refseq_ac": "NP_055954",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide sugar transporter SLC35D1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 35 member D1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcA/UDP-GalNAc transporter",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose transporter-related 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose transporter-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "UGTrel7",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide sugar transporter SLC35D1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC35D1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0260",
                    "type": "synonym"
                },
                {
                    "name": "SHNKND",
                    "type": "synonym"
                },
                {
                    "name": "SLC35D1",
                    "type": "synonym"
                },
                {
                    "name": "UGTREL7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NTN3-1",
            "evidence": [
                {
                    "id": "23169",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/23169#disease"
                },
                {
                    "id": "0010013",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010013"
                },
                {
                    "id": "269250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/269250"
                },
                {
                    "id": "SLC35D1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SLC35D1/#!details"
                },
                {
                    "id": "0050775",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050775"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1N1V5-1",
            "uniprot_ac": "A0A8M1N1V5",
            "uniprot_id": "A0A8M1N1V5_DANRE",
            "refseq_ac": "NP_001003877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 35 member D1a",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1a",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1a",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 member D1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc35d1a",
                    "type": "recommended"
                },
                {
                    "name": "slc35d1a",
                    "type": "synonym"
                },
                {
                    "name": "slc35d1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N1V5-1",
            "evidence": [
                {
                    "id": "0050775",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050775"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9QF41-1",
            "uniprot_ac": "E9QF41",
            "uniprot_id": "E9QF41_DANRE",
            "refseq_ac": "NP_956769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 35 member D1b",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1b",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1b",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 member D1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc35d1b",
                    "type": "recommended"
                },
                {
                    "name": "slc35d1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63651",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QF41-1",
            "evidence": [
                {
                    "id": "0050775",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050775"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AKQ0-1",
            "uniprot_ac": "A2AKQ0",
            "uniprot_id": "S35D1_MOUSE",
            "refseq_ac": "NP_808400",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide sugar transporter SLC35D1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 35 member D1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcA/UDP-GalNAc transporter",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose transporter-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "UGTrel7",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide sugar transporter SLC35D1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide sugar transporter SLC35D1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 35 member D1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35d1",
                    "type": "recommended"
                },
                {
                    "name": "C330011J09",
                    "type": "synonym"
                },
                {
                    "name": "Slc35d1",
                    "type": "synonym"
                },
                {
                    "name": "UGTREL7",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0260",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AKQ0-1",
            "evidence": [
                {
                    "id": "0050775",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050775"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZPC4-1",
            "uniprot_ac": "A0A8I5ZPC4",
            "uniprot_id": "A0A8I5ZPC4_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": "Solute carrier family 35 member D1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35d1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZPC4-1",
            "evidence": [
                {
                    "id": "0050775",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050775"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95YI5-1",
            "uniprot_ac": "Q95YI5",
            "uniprot_id": "US74C_DROME",
            "refseq_ac": "NP_001137962",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-sugar transporter UST74c",
                    "type": "recommended"
                },
                {
                    "name": "CG3874-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fringe-connection",
                    "type": "synonym"
                },
                {
                    "name": "Protein fringe connection",
                    "type": "synonym"
                },
                {
                    "name": "UDP-sugar transporter in 74C",
                    "type": "synonym"
                },
                {
                    "name": "frc-PB",
                    "type": "synonym"
                },
                {
                    "name": "fringe connection, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "fringe connection",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frc",
                    "type": "recommended"
                },
                {
                    "name": "CG3874",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3874",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3874",
                    "type": "synonym"
                },
                {
                    "name": "FRC",
                    "type": "synonym"
                },
                {
                    "name": "Frc",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc/UDP-GlcUA",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcUA",
                    "type": "synonym"
                },
                {
                    "name": "UST74C",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.5",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.7",
                    "type": "synonym"
                },
                {
                    "name": "dFRC",
                    "type": "synonym"
                },
                {
                    "name": "frc",
                    "type": "synonym"
                },
                {
                    "name": "l(3)00073",
                    "type": "synonym"
                },
                {
                    "name": "l(3)02619",
                    "type": "synonym"
                },
                {
                    "name": "l(3)10098",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L6750",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S070006",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j2E3",
                    "type": "synonym"
                },
                {
                    "name": "ust74C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95YI5-1",
            "evidence": [
                {
                    "id": "0050775",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050775"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050775"
}