{
    "disease_id": "DOID:0080311",
    "recommended_name": {
        "id": "DOID:0080311",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080311",
        "name": "Billuart-type X-linked syndromic intellectual developmental disorder",
        "description": "A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12."
    },
    "synonyms": [
        {
            "id": "DOID:0080311",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080311",
            "name": "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome",
            "description": "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities."
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "Oligophrenin-1 syndrome",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome",
            "description": ""
        },
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            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "MRX60 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 XLMR",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 XLMR, X-linked intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1 deficiency",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "OPHN1- related XLID",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "X-linked intellectual Deficit with cerebellar Hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "intellectual disability X-linked 60 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "name": "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
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            "description": ""
        },
        {
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            "name": "mental retardation X-linked 60 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010337",
            "resource": "MONDO",
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            "description": ""
        },
        {
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            "resource": "MONDO",
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        },
        {
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        },
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            "description": ""
        },
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            "url": "https://www.omim.org/entry/300486",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Billuart type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Billuart type"
        }
    ],
    "children": [],
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    ],
    "unlinked_id_list": [],
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        {
            "id": "DOID:0080311",
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            "categories": []
        },
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010337",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/300486",
            "categories": []
        }
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                {
                    "name": "Q9VXQ2_DROME",
                    "type": "synonym"
                },
                {
                    "name": "graf",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JDY8-1",
            "evidence": [
                {
                    "id": "0080311",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080311"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6NI28-1",
            "uniprot_ac": "A6NI28",
            "uniprot_id": "RHG42_HUMAN",
            "refseq_ac": "NP_689645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GTPase-activating protein 42",
                    "type": "recommended"
                },
                {
                    "name": "Rho GTPase-activating protein 10-like",
                    "type": "synonym"
                },
                {
                    "name": "Rho-type GTPase-activating protein 42",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 42 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 42",
                    "type": "synonym"
                },
                {
                    "name": "rho-type GTPase-activating protein 42",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 133",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGAP42",
                    "type": "recommended"
                },
                {
                    "name": "AD031",
                    "type": "synonym"
                },
                {
                    "name": "ARHGAP42",
                    "type": "synonym"
                },
                {
                    "name": "GRAF3",
                    "type": "synonym"
                },
                {
                    "name": "TMEM133",
                    "type": "synonym"
                }
            ],
            "record_id": "A6NI28-1",
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                {
                    "id": "0080311",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080311"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1A4S6-1",
            "uniprot_ac": "A1A4S6",
            "uniprot_id": "RHG10_HUMAN",
            "refseq_ac": "NP_078881",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GTPase-activating protein 10",
                    "type": "recommended"
                },
                {
                    "name": "GRAF2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase regulator associated with focal adhesion kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Graf-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Rho-type GTPase-activating protein 10",
                    "type": "synonym"
                },
                {
                    "name": "graf-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 10",
                    "type": "synonym"
                },
                {
                    "name": "rho-type GTPase-activating protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGAP10",
                    "type": "recommended"
                },
                {
                    "name": "ARHGAP10",
                    "type": "synonym"
                },
                {
                    "name": "GRAF2",
                    "type": "synonym"
                },
                {
                    "name": "PS-GAP",
                    "type": "synonym"
                },
                {
                    "name": "PSGAP",
                    "type": "synonym"
                }
            ],
            "record_id": "A1A4S6-1",
            "evidence": [
                {
                    "id": "0080311",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080311"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UNA1-1",
            "uniprot_ac": "Q9UNA1",
            "uniprot_id": "RHG26_HUMAN",
            "refseq_ac": "NP_001129080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GTPase-activating protein 26",
                    "type": "recommended"
                },
                {
                    "name": "GRAF1",
                    "type": "synonym"
                },
                {
                    "name": "GTPase regulator associated with focal adhesion kinase pp125(FAK)",
                    "type": "synonym"
                },
                {
                    "name": "GTPase regulator associated with focal adhesion kinase",
                    "type": "synonym"
                },
                {
                    "name": "Oligophrenin-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Rho-type GTPase-activating protein 26",
                    "type": "synonym"
                },
                {
                    "name": "oligophrenin-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 26 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGAP26",
                    "type": "recommended"
                },
                {
                    "name": "ARHGAP26",
                    "type": "synonym"
                },
                {
                    "name": "GRAF1",
                    "type": "synonym"
                },
                {
                    "name": "GRAF",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0621",
                    "type": "synonym"
                },
                {
                    "name": "OPHN1L1",
                    "type": "synonym"
                },
                {
                    "name": "OPHN1L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UNA1-1",
            "evidence": [
                {
                    "id": "0080311",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080311"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080311"
}