{
    "disease_id": "DOID:0111838",
    "recommended_name": {
        "id": "DOID:0111838",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111838",
        "name": "Basilicata-Akhtar syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111838",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111838",
            "name": "MRXS36",
            "description": ""
        },
        {
            "id": "DOID:0111838",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111838",
            "name": "X-linked syndromic mental retardation 36",
            "description": ""
        },
        {
            "id": "DOID:0111838",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111838",
            "name": "X-linked syndromic mental retardation Basilicata-Akhtar type",
            "description": ""
        },
        {
            "id": "MONDO:0026730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026730",
            "name": "Basilicata-Akhtar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0026730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026730",
            "name": "Basilicata-Akhtar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0026730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026730",
            "name": "Basilicata-Akhtar syndrome, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0026730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026730",
            "name": "MRXSBA",
            "description": ""
        },
        {
            "id": "MIM:301032",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301032",
            "name": "Basilicata-Akhtar syndrome",
            "description": "Basilicata-Akhtar syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111838"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111838",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111838",
            "categories": []
        },
        {
            "id": "MONDO:0026730",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026730",
            "categories": []
        },
        {
            "id": "MIM:301032",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301032",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WVG9-1",
            "uniprot_ac": "Q9WVG9",
            "uniprot_id": "MS3L1_MOUSE",
            "refseq_ac": "NP_034962",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "MSL complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "MSL complex subunit 3 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "MSL3-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal-3 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal-3 protein-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msl3",
                    "type": "recommended"
                },
                {
                    "name": "Msl31",
                    "type": "synonym"
                },
                {
                    "name": "Msl3l1",
                    "type": "synonym"
                },
                {
                    "name": "Msl3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVG9-1",
            "evidence": [
                {
                    "id": "0111838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3X992-1",
            "uniprot_ac": "G3X992",
            "uniprot_id": "MS3L2_MOUSE",
            "refseq_ac": "NP_001157305",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "MSL complex subunit 3B",
                    "type": "recommended"
                },
                {
                    "name": "MSL complex subunit 3B",
                    "type": "synonym"
                },
                {
                    "name": "MSL3 like 2",
                    "type": "synonym"
                },
                {
                    "name": "MSL3-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 protein-like 2",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal 3-like 2",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal-3 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal-3 protein-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msl3b",
                    "type": "recommended"
                },
                {
                    "name": "1700060H10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Msl3b",
                    "type": "synonym"
                },
                {
                    "name": "Msl3l2",
                    "type": "synonym"
                }
            ],
            "record_id": "G3X992-1",
            "evidence": [
                {
                    "id": "0111838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N5Y2-1",
            "uniprot_ac": "Q8N5Y2",
            "uniprot_id": "MS3L1_HUMAN",
            "refseq_ac": "NP_001180199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "MSL complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "MSL complex subunit 3 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "MSL3-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal-3 protein-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSL3",
                    "type": "recommended"
                },
                {
                    "name": "MRSXBA",
                    "type": "synonym"
                },
                {
                    "name": "MRXS36",
                    "type": "synonym"
                },
                {
                    "name": "MRXSBA",
                    "type": "synonym"
                },
                {
                    "name": "MSL3L1",
                    "type": "synonym"
                },
                {
                    "name": "MSL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N5Y2-1",
            "evidence": [
                {
                    "id": "301032",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301032"
                },
                {
                    "id": "0111838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A9H7-1",
            "uniprot_ac": "A0A8I6A9H7",
            "uniprot_id": "A0A8I6A9H7_RAT",
            "refseq_ac": "NP_001421144",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MSL complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Male-specific lethal 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Male-specific lethal-3 protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal 3 homolog isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal-3 homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msl3",
                    "type": "recommended"
                },
                {
                    "name": "Msl31",
                    "type": "synonym"
                },
                {
                    "name": "Msl3l1",
                    "type": "synonym"
                },
                {
                    "name": "Msl3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A9H7-1",
            "evidence": [
                {
                    "id": "0111838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111838"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50536-1",
            "uniprot_ac": "P50536",
            "uniprot_id": "MSL3_DROME",
            "refseq_ac": "NP_523951",
            "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 male-specific lethal-3",
                    "type": "recommended"
                },
                {
                    "name": "CG8631-PA",
                    "type": "synonym"
                },
                {
                    "name": "gene 2",
                    "type": "synonym"
                },
                {
                    "name": "male sex lethal 3",
                    "type": "synonym"
                },
                {
                    "name": "male sex lethal-3",
                    "type": "synonym"
                },
                {
                    "name": "male specifc lethal",
                    "type": "synonym"
                },
                {
                    "name": "male specific lethal 3",
                    "type": "synonym"
                },
                {
                    "name": "male-specific lethal 3",
                    "type": "synonym"
                },
                {
                    "name": "males specific lethal 3",
                    "type": "synonym"
                },
                {
                    "name": "msl-3-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "msl-3",
                    "type": "recommended"
                },
                {
                    "name": "CG8631",
                    "type": "synonym"
                },
                {
                    "name": "DmMsl-3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8631",
                    "type": "synonym"
                },
                {
                    "name": "MSL-3",
                    "type": "synonym"
                },
                {
                    "name": "MSL3_DROME",
                    "type": "synonym"
                },
                {
                    "name": "MSL3",
                    "type": "synonym"
                },
                {
                    "name": "MSL",
                    "type": "synonym"
                },
                {
                    "name": "Msl 1-3",
                    "type": "synonym"
                },
                {
                    "name": "Msl3",
                    "type": "synonym"
                },
                {
                    "name": "mle(3)132",
                    "type": "synonym"
                },
                {
                    "name": "mle3",
                    "type": "synonym"
                },
                {
                    "name": "mls3",
                    "type": "synonym"
                },
                {
                    "name": "msl-3",
                    "type": "synonym"
                },
                {
                    "name": "msl3",
                    "type": "synonym"
                },
                {
                    "name": "msl",
                    "type": "synonym"
                }
            ],
            "record_id": "P50536-1",
            "evidence": [
                {
                    "id": "0111838",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111838"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111838"
}