{
    "disease_id": "DOID:0111845",
    "recommended_name": {
        "id": "DOID:0111845",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111845",
        "name": "Mullegama-Klein-Martinez syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25."
    },
    "synonyms": [
        {
            "id": "DOID:0111845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111845",
            "name": "X-linked neurodevelopmental disorder with craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0111845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111845",
            "name": "MKMS",
            "description": ""
        },
        {
            "id": "DOID:0111845",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111845",
            "name": "NEDXCF",
            "description": ""
        },
        {
            "id": "MONDO:0026722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026722",
            "name": "Mullegama-Klein-Martinez syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0026722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026722",
            "name": "MKMS",
            "description": ""
        },
        {
            "id": "MIM:301022",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301022",
            "name": "Mullegama-Klein-Martinez syndrome",
            "description": "Mullegama-Klein-Martinez syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111845"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111845",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111845",
            "categories": []
        },
        {
            "id": "MONDO:0026722",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026722",
            "categories": []
        },
        {
            "id": "MIM:301022",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301022",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IZR5-1",
            "uniprot_ac": "A0A0R4IZR5",
            "uniprot_id": "A0A0R4IZR5_DANRE",
            "refseq_ac": "XP_021328465",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA",
                    "type": "recommended"
                },
                {
                    "name": "SCC3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stag2b",
                    "type": "recommended"
                },
                {
                    "name": "stag2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IZR5-1",
            "evidence": [
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NE13-1",
            "uniprot_ac": "A0A8M1NE13",
            "uniprot_id": "A0A8M1NE13_DANRE",
            "refseq_ac": "NP_001093498",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA",
                    "type": "recommended"
                },
                {
                    "name": "SCC3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2a",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 2a",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stag2a",
                    "type": "recommended"
                },
                {
                    "name": "fc39a01",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-20g2.6",
                    "type": "synonym"
                },
                {
                    "name": "stag2a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc39a01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NE13-1",
            "evidence": [
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35638-1",
            "uniprot_ac": "O35638",
            "uniprot_id": "STAG2_MOUSE",
            "refseq_ac": "NP_001071180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA-2",
                    "type": "recommended"
                },
                {
                    "name": "SCC3 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein SA2",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stag2",
                    "type": "recommended"
                },
                {
                    "name": "9230105L23Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230112I07Rik",
                    "type": "synonym"
                },
                {
                    "name": "SA-2",
                    "type": "synonym"
                },
                {
                    "name": "SAP2",
                    "type": "synonym"
                },
                {
                    "name": "Sa2",
                    "type": "synonym"
                },
                {
                    "name": "Sap2",
                    "type": "synonym"
                },
                {
                    "name": "Stag2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35638-1",
            "evidence": [
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N3U4-1",
            "uniprot_ac": "Q8N3U4",
            "uniprot_id": "STAG2_HUMAN",
            "refseq_ac": "NP_001036214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA-2",
                    "type": "recommended"
                },
                {
                    "name": "SA2 stromalin",
                    "type": "synonym"
                },
                {
                    "name": "SCC3 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2",
                    "type": "synonym"
                },
                {
                    "name": "sister chromatid cohesion 3 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAG2",
                    "type": "recommended"
                },
                {
                    "name": "HPE13",
                    "type": "synonym"
                },
                {
                    "name": "MKMS",
                    "type": "synonym"
                },
                {
                    "name": "NEDXCF",
                    "type": "synonym"
                },
                {
                    "name": "SA-2",
                    "type": "synonym"
                },
                {
                    "name": "SA2",
                    "type": "synonym"
                },
                {
                    "name": "SCC3B",
                    "type": "synonym"
                },
                {
                    "name": "STAG2",
                    "type": "synonym"
                },
                {
                    "name": "bA517O1.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N3U4-1",
            "evidence": [
                {
                    "id": "301022",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301022"
                },
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40541-1",
            "uniprot_ac": "P40541",
            "uniprot_id": "SCC3_YEAST",
            "refseq_ac": "NP_012238",
            "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": "Cohesin subunit SCC3",
                    "type": "recommended"
                },
                {
                    "name": "Irregular cell behavior protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit IRR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRR1",
                    "type": "recommended"
                },
                {
                    "name": "IRR1",
                    "type": "synonym"
                },
                {
                    "name": "SCC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P40541-1",
            "evidence": [
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXT2-1",
            "uniprot_ac": "D3ZXT2",
            "uniprot_id": "D3ZXT2_RAT",
            "refseq_ac": "NP_001166978",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA",
                    "type": "recommended"
                },
                {
                    "name": "SCC3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-2",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stag2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1562042",
                    "type": "synonym"
                },
                {
                    "name": "Stag2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXT2-1",
            "evidence": [
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM62-1",
            "uniprot_ac": "Q9VM62",
            "uniprot_id": "Q9VM62_DROME",
            "refseq_ac": "NP_477268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3423-PA",
                    "type": "synonym"
                },
                {
                    "name": "SA1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin 1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin",
                    "type": "synonym"
                },
                {
                    "name": "stromalin 1",
                    "type": "synonym"
                },
                {
                    "name": "stromalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SA1",
                    "type": "recommended"
                },
                {
                    "name": "CG3423",
                    "type": "synonym"
                },
                {
                    "name": "DSA1",
                    "type": "synonym"
                },
                {
                    "name": "DSA",
                    "type": "synonym"
                },
                {
                    "name": "DmSA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3423",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3423",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:92H2T",
                    "type": "synonym"
                },
                {
                    "name": "SA-1",
                    "type": "synonym"
                },
                {
                    "name": "SA1",
                    "type": "synonym"
                },
                {
                    "name": "SA",
                    "type": "synonym"
                },
                {
                    "name": "SCC3",
                    "type": "synonym"
                },
                {
                    "name": "Scc3",
                    "type": "synonym"
                },
                {
                    "name": "stromalin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM62-1",
            "evidence": [
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0F4-1",
            "uniprot_ac": "Q9W0F4",
            "uniprot_id": "Q9W0F4_DROME",
            "refseq_ac": "NP_612109",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13916-PC",
                    "type": "synonym"
                },
                {
                    "name": "SA2-PC",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin 2",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin-2",
                    "type": "synonym"
                },
                {
                    "name": "complementation group 1",
                    "type": "synonym"
                },
                {
                    "name": "pairing failure-1",
                    "type": "synonym"
                },
                {
                    "name": "stromalin 2",
                    "type": "synonym"
                },
                {
                    "name": "stromalin in meiosis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SA2",
                    "type": "recommended"
                },
                {
                    "name": "CG13916",
                    "type": "synonym"
                },
                {
                    "name": "CG1",
                    "type": "synonym"
                },
                {
                    "name": "DSA2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13916",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13916",
                    "type": "synonym"
                },
                {
                    "name": "SA-2",
                    "type": "synonym"
                },
                {
                    "name": "SA2",
                    "type": "synonym"
                },
                {
                    "name": "SNM",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.35",
                    "type": "synonym"
                },
                {
                    "name": "pf-1",
                    "type": "synonym"
                },
                {
                    "name": "snm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0F4-1",
            "evidence": [
                {
                    "id": "0111845",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111845"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111845"
}