{
    "disease_id": "DOID:0112018",
    "recommended_name": {
        "id": "DOID:0112018",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112018",
        "name": "non-syndromic X-linked intellectual disability 104",
        "description": "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112018",
            "name": "MRX104",
            "description": ""
        },
        {
            "id": "DOID:0112018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112018",
            "name": "X-linked mental retardation 104",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "intellectual disability, X-linked 104",
            "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene."
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "FRMPD4 non-syndromic X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "MRX104",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "intellectual developmental disorder, X-linked 104",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "intellectual disability, X-linked 104",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "intellectual disability, X-linked type 104",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "mental retardation, X-linked 104",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "mental retardation, X-linked type 104",
            "description": ""
        },
        {
            "id": "MONDO:0010509",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "name": "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4",
            "description": ""
        },
        {
            "id": "MIM:300983",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300983",
            "name": "Intellectual developmental disorder, X-linked 104",
            "description": "Intellectual developmental disorder, X-linked 104"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112018"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112018",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112018",
            "categories": []
        },
        {
            "id": "MONDO:0010509",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010509",
            "categories": []
        },
        {
            "id": "MIM:300983",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300983",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GI78-1",
            "uniprot_ac": "A0AC58GI78",
            "uniprot_id": "A0AC58GI78_DANRE",
            "refseq_ac": "XP_073769425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM and PDZ domain-containing protein 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frmpd4",
                    "type": "recommended"
                },
                {
                    "name": "frmpd4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GI78-1",
            "evidence": [
                {
                    "id": "0112018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112018"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AFR3-1",
            "uniprot_ac": "A2AFR3",
            "uniprot_id": "FRPD4_MOUSE",
            "refseq_ac": "NP_001028502",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM and PDZ domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "FERM and PDZ domain-containing protein 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "FERM and PDZ domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "PSD-95-interacting regulator of spine morphogenesis",
                    "type": "synonym"
                },
                {
                    "name": "Preso",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmpd4",
                    "type": "recommended"
                },
                {
                    "name": "Frmpd4",
                    "type": "synonym"
                },
                {
                    "name": "Gm196",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0316",
                    "type": "synonym"
                },
                {
                    "name": "PKAP1",
                    "type": "synonym"
                },
                {
                    "name": "Pdzd10",
                    "type": "synonym"
                },
                {
                    "name": "Pdzk10",
                    "type": "synonym"
                },
                {
                    "name": "Preso1",
                    "type": "synonym"
                },
                {
                    "name": "preso",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AFR3-1",
            "evidence": [
                {
                    "id": "0112018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112018"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14CM0-1",
            "uniprot_ac": "Q14CM0",
            "uniprot_id": "FRPD4_HUMAN",
            "refseq_ac": "NP_055543",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM and PDZ domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "FERM and PDZ domain-containing protein 4 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "PSD-95-interacting FERM and PDZ domain protein",
                    "type": "synonym"
                },
                {
                    "name": "PSD-95-interacting regulator of spine morphogenesis",
                    "type": "synonym"
                },
                {
                    "name": "Preso",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRMPD4",
                    "type": "recommended"
                },
                {
                    "name": "FRMPD4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0316",
                    "type": "synonym"
                },
                {
                    "name": "MRX104",
                    "type": "synonym"
                },
                {
                    "name": "PDZD10",
                    "type": "synonym"
                },
                {
                    "name": "PDZK10",
                    "type": "synonym"
                },
                {
                    "name": "XLID104",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14CM0-1",
            "evidence": [
                {
                    "id": "300983",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300983"
                },
                {
                    "id": "0112018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112018"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GKT4-1",
            "uniprot_ac": "A0A8I6GKT4",
            "uniprot_id": "A0A8I6GKT4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM and PDZ domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "PSD-95-interacting regulator of spine morphogenesis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frmpd4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GKT4-1",
            "evidence": [
                {
                    "id": "0112018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112018"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFD3-1",
            "uniprot_ac": "Q9VFD3",
            "uniprot_id": "Q9VFD3_DROME",
            "refseq_ac": "NP_731964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERM and PDZ domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "CG42788-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG6934",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG42788",
                    "type": "recommended"
                },
                {
                    "name": "CG18442",
                    "type": "synonym"
                },
                {
                    "name": "CG31304",
                    "type": "synonym"
                },
                {
                    "name": "CG42788",
                    "type": "synonym"
                },
                {
                    "name": "CG6934",
                    "type": "synonym"
                },
                {
                    "name": "CG6960",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42788",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42788",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.79",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFD3-1",
            "evidence": [
                {
                    "id": "0112018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112018"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112018"
}