{
    "disease_id": "DOID:0112035",
    "recommended_name": {
        "id": "DOID:0112035",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112035",
        "name": "non-syndromic X-linked intellectual disability 96",
        "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0112035",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112035",
            "name": "MRX96",
            "description": ""
        },
        {
            "id": "DOID:0112035",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112035",
            "name": "X-linked mental retardation 96",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "intellectual disability, X-linked 96",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene."
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "SYP non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "intellectual developmental disorder, X-linked 96, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "intellectual disability, X-linked 96",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "intellectual disability, X-linked type 96",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "mental retardation, X-linked type 96",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in SYP",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "MRX96",
            "description": ""
        },
        {
            "id": "MONDO:0010429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "name": "mental retardation, X-linked 96",
            "description": ""
        },
        {
            "id": "MIM:300802",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300802",
            "name": "Intellectual developmental disorder, X-linked 96",
            "description": "Intellectual developmental disorder, X-linked 96"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112035"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112035",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112035",
            "categories": []
        },
        {
            "id": "MONDO:0010429",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010429",
            "categories": []
        },
        {
            "id": "MIM:300802",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300802",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S6H6-1",
            "uniprot_ac": "B0S6H6",
            "uniprot_id": "B0S6H6_DANRE",
            "refseq_ac": "NP_001025413",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptophysin b",
                    "type": "synonym"
                },
                {
                    "name": "synaptophysin b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sypb",
                    "type": "recommended"
                },
                {
                    "name": "sypb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136469",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92837",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S6H6-1",
            "evidence": [
                {
                    "id": "0112035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0S5B9-1",
            "uniprot_ac": "B0S5B9",
            "uniprot_id": "B0S5B9_DANRE",
            "refseq_ac": "NP_001137449",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptophysin",
                    "type": "recommended"
                },
                {
                    "name": "synaptophysin a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sypa",
                    "type": "recommended"
                },
                {
                    "name": "sypa",
                    "type": "synonym"
                },
                {
                    "name": "syp",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S5B9-1",
            "evidence": [
                {
                    "id": "0112035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62277-1",
            "uniprot_ac": "Q62277",
            "uniprot_id": "SYPH_MOUSE",
            "refseq_ac": "NP_033331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptophysin",
                    "type": "recommended"
                },
                {
                    "name": "BM89 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Major synaptic vesicle protein p38",
                    "type": "synonym"
                },
                {
                    "name": "Syp I",
                    "type": "synonym"
                },
                {
                    "name": "major synaptic vesicle protein p38",
                    "type": "synonym"
                },
                {
                    "name": "synaptophysin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syp",
                    "type": "recommended"
                },
                {
                    "name": "A230093K24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Syn",
                    "type": "synonym"
                },
                {
                    "name": "Syp",
                    "type": "synonym"
                },
                {
                    "name": "p38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62277-1",
            "evidence": [
                {
                    "id": "0112035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08247-1",
            "uniprot_ac": "P08247",
            "uniprot_id": "SYPH_HUMAN",
            "refseq_ac": "NP_003170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptophysin",
                    "type": "recommended"
                },
                {
                    "name": "Major synaptic vesicle protein p38",
                    "type": "synonym"
                },
                {
                    "name": "major synaptic vesicle protein P38",
                    "type": "synonym"
                },
                {
                    "name": "synaptophysin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYP",
                    "type": "recommended"
                },
                {
                    "name": "MRX96",
                    "type": "synonym"
                },
                {
                    "name": "MRXSYP",
                    "type": "synonym"
                },
                {
                    "name": "SYP",
                    "type": "synonym"
                },
                {
                    "name": "XLID96",
                    "type": "synonym"
                }
            ],
            "record_id": "P08247-1",
            "evidence": [
                {
                    "id": "300802",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300802"
                },
                {
                    "id": "0112035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07825-1",
            "uniprot_ac": "P07825",
            "uniprot_id": "SYPH_RAT",
            "refseq_ac": "NP_036796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptophysin",
                    "type": "recommended"
                },
                {
                    "name": "Major synaptic vesicle protein p38",
                    "type": "synonym"
                },
                {
                    "name": "major synaptic vesicle protein p38",
                    "type": "synonym"
                },
                {
                    "name": "synaptophysin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syp",
                    "type": "recommended"
                },
                {
                    "name": "Syp1",
                    "type": "synonym"
                },
                {
                    "name": "Syp",
                    "type": "synonym"
                }
            ],
            "record_id": "P07825-1",
            "evidence": [
                {
                    "id": "0112035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16676-1",
            "uniprot_ac": "Q16676",
            "uniprot_id": "FOXD1_HUMAN",
            "refseq_ac": "NP_004463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein D1",
                    "type": "recommended"
                },
                {
                    "name": "FREAC-4",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead, drosophila, homolog-like 8",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL8",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein D1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 8",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related activator 4",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL8",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related transcription factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXD1",
                    "type": "recommended"
                },
                {
                    "name": "FKHL8",
                    "type": "synonym"
                },
                {
                    "name": "FOXD1",
                    "type": "synonym"
                },
                {
                    "name": "FREAC-4",
                    "type": "synonym"
                },
                {
                    "name": "FREAC4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16676-1",
            "evidence": [
                {
                    "id": "0112035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112035"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112035"
}