{
    "disease_id": "DOID:0080739",
    "recommended_name": {
        "id": "DOID:0080739",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080739",
        "name": "Ehlers-Danlos syndrome spondylodysplastic type 3",
        "description": "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features."
    },
    "synonyms": [
        {
            "id": "MONDO:0012873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012873",
            "name": "Ehlers-Danlos syndrome, spondylocheirodysplastic type",
            "description": "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers."
        },
        {
            "id": "MONDO:0012873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012873",
            "name": "EDS, spondylocheirodysplastic type",
            "description": ""
        },
        {
            "id": "MONDO:0012873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012873",
            "name": "EDSSPD3",
            "description": ""
        },
        {
            "id": "MIM:612350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612350",
            "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 3",
            "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080739"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080739",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080739",
            "categories": []
        },
        {
            "id": "MONDO:0012873",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012873",
            "categories": []
        },
        {
            "id": "MIM:612350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8AW42-1",
            "uniprot_ac": "Q8AW42",
            "uniprot_id": "S39AD_DANRE",
            "refseq_ac": "NP_001005306",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter ZIP13",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-13",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 13",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 13",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP13",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc39a13",
                    "type": "recommended"
                },
                {
                    "name": "ZIP13",
                    "type": "synonym"
                },
                {
                    "name": "si:by184l24.1",
                    "type": "synonym"
                },
                {
                    "name": "si:xx-184l24.1",
                    "type": "synonym"
                },
                {
                    "name": "slc39a13",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa55a07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136440",
                    "type": "synonym"
                },
                {
                    "name": "zip13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8AW42-1",
            "evidence": [
                {
                    "id": "0080739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BZH0-1",
            "uniprot_ac": "Q8BZH0",
            "uniprot_id": "S39AD_MOUSE",
            "refseq_ac": "NP_001277694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter ZIP13",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-13",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 13",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 member 13",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP13 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP13",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a13",
                    "type": "recommended"
                },
                {
                    "name": "1100001L14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP13",
                    "type": "synonym"
                },
                {
                    "name": "Zip13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZH0-1",
            "evidence": [
                {
                    "id": "0080739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96H72-1",
            "uniprot_ac": "Q96H72",
            "uniprot_id": "S39AD_HUMAN",
            "refseq_ac": "NP_001317174",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter ZIP13",
                    "type": "recommended"
                },
                {
                    "name": "LIV-1 subfamily of ZIP zinc transporter 9",
                    "type": "synonym"
                },
                {
                    "name": "LIV-1 subfamily of ZIP zinc transporters human member 9",
                    "type": "synonym"
                },
                {
                    "name": "LZT-Hs9",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-13",
                    "type": "synonym"
                },
                {
                    "name": "ZRT/IRT-like protein 13",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 13",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (metal ion transporter), member 13",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 13",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 13",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP13 isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP13",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC39A13",
                    "type": "recommended"
                },
                {
                    "name": "EDSSPD3",
                    "type": "synonym"
                },
                {
                    "name": "LZT-Hs9",
                    "type": "synonym"
                },
                {
                    "name": "SCDEDS",
                    "type": "synonym"
                },
                {
                    "name": "SLC39A13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96H72-1",
            "evidence": [
                {
                    "id": "612350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612350"
                },
                {
                    "id": "0080739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40544-1",
            "uniprot_ac": "P40544",
            "uniprot_id": "YKE4_YEAST",
            "refseq_ac": "NP_012241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter YKE4",
                    "type": "recommended"
                },
                {
                    "name": "Zn(2+) transporter YKE4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YKE4",
                    "type": "recommended"
                },
                {
                    "name": "YKE4",
                    "type": "synonym"
                }
            ],
            "record_id": "P40544-1",
            "evidence": [
                {
                    "id": "0080739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2M1K6-1",
            "uniprot_ac": "Q2M1K6",
            "uniprot_id": "S39AD_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": "Zinc transporter ZIP13",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-13",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a13",
                    "type": "recommended"
                },
                {
                    "name": "Zip13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2M1K6-1",
            "evidence": [
                {
                    "id": "0080739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAF0-1",
            "uniprot_ac": "Q9VAF0",
            "uniprot_id": "S39AD_DROME",
            "refseq_ac": "NP_001189313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter ZIP13 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG7816-PH",
                    "type": "synonym"
                },
                {
                    "name": "Zinc/iron regulated transporter-related protein 99C, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "Zinc/iron regulated transporter-related protein 99C",
                    "type": "synonym"
                },
                {
                    "name": "Zip99C-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zip99C",
                    "type": "recommended"
                },
                {
                    "name": "CG7816",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7816",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7816",
                    "type": "synonym"
                },
                {
                    "name": "ZIP13",
                    "type": "synonym"
                },
                {
                    "name": "ZIP99C",
                    "type": "synonym"
                },
                {
                    "name": "Zip13",
                    "type": "synonym"
                },
                {
                    "name": "Zip99C",
                    "type": "synonym"
                },
                {
                    "name": "cg7816",
                    "type": "synonym"
                },
                {
                    "name": "dZIP13",
                    "type": "synonym"
                },
                {
                    "name": "dZip13",
                    "type": "synonym"
                },
                {
                    "name": "dZip99C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAF0-1",
            "evidence": [
                {
                    "id": "0080739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080739"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080739"
}