{
    "disease_id": "DOID:0070422",
    "recommended_name": {
        "id": "DOID:0070422",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070422",
        "name": "syndromic X-linked intellectual disability Pilorge type",
        "description": "A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0070422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070422",
            "name": "MRXSP",
            "description": ""
        },
        {
            "id": "MONDO:0024772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024772",
            "name": "intellectual developmental disorder, X-linked, syndromic, Pilorge type",
            "description": ""
        },
        {
            "id": "MONDO:0024772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024772",
            "name": "MRXSP",
            "description": ""
        },
        {
            "id": "MONDO:0024772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024772",
            "name": "intellectual developmental disorder, X-linked, syndromic, Pilorge type",
            "description": ""
        },
        {
            "id": "MIM:301076",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301076",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Pilorge type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Pilorge type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070422"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070422",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070422",
            "categories": []
        },
        {
            "id": "MONDO:0024772",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024772",
            "categories": []
        },
        {
            "id": "MIM:301076",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301076",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PSE3-1",
            "uniprot_ac": "A0A8M9PSE3",
            "uniprot_id": "A0A8M9PSE3_DANRE",
            "refseq_ac": "XP_021334452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alpha-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glra2",
                    "type": "recommended"
                },
                {
                    "name": "glra2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-12n8.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PSE3-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TNC8-1",
            "uniprot_ac": "Q7TNC8",
            "uniprot_id": "GLRA2_MOUSE",
            "refseq_ac": "NP_906272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "glycine receptor subunit alpha-2 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glra2",
                    "type": "recommended"
                },
                {
                    "name": "Glra2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNC8-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23416-1",
            "uniprot_ac": "P23416",
            "uniprot_id": "GLRA2_HUMAN",
            "refseq_ac": "NP_001112357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "glycine receptor alpha 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2 isoform A precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor, alpha-2 polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLRA2",
                    "type": "recommended"
                },
                {
                    "name": "GLRA2",
                    "type": "synonym"
                },
                {
                    "name": "GLR",
                    "type": "synonym"
                },
                {
                    "name": "MRXSP",
                    "type": "synonym"
                }
            ],
            "record_id": "P23416-1",
            "evidence": [
                {
                    "id": "301076",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301076"
                },
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22771-1",
            "uniprot_ac": "P22771",
            "uniprot_id": "GLRA2_RAT",
            "refseq_ac": "NP_036700",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor alpha 2 subunit (glycine receptor, neonatal)",
                    "type": "synonym"
                },
                {
                    "name": "Glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glra2",
                    "type": "recommended"
                },
                {
                    "name": "Glra2",
                    "type": "synonym"
                },
                {
                    "name": "RNNEOGLY",
                    "type": "synonym"
                }
            ],
            "record_id": "P22771-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI70-1",
            "uniprot_ac": "M9PI70",
            "uniprot_id": "M9PI70_DROME",
            "refseq_ac": "NP_001261898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG44099-PN",
                    "type": "synonym"
                },
                {
                    "name": "PH-sensitive chloride channel 1, isoform N",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-gated chloride channel-like",
                    "type": "synonym"
                },
                {
                    "name": "pH-sensitive chloride channel 1, isoform N",
                    "type": "synonym"
                },
                {
                    "name": "pH-sensitive chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "pHCl-1-PN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pHCl-1",
                    "type": "recommended"
                },
                {
                    "name": "BP1024",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH21757",
                    "type": "synonym"
                },
                {
                    "name": "CG12486",
                    "type": "synonym"
                },
                {
                    "name": "CG13444",
                    "type": "synonym"
                },
                {
                    "name": "CG33989",
                    "type": "synonym"
                },
                {
                    "name": "CG44099",
                    "type": "synonym"
                },
                {
                    "name": "CG6112",
                    "type": "synonym"
                },
                {
                    "name": "CT19189",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44099",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44099",
                    "type": "synonym"
                },
                {
                    "name": "pHCL-A",
                    "type": "synonym"
                },
                {
                    "name": "pHCl-1",
                    "type": "synonym"
                },
                {
                    "name": "pHCl",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI70-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94900-1",
            "uniprot_ac": "Q94900",
            "uniprot_id": "GLUCL_DROME",
            "refseq_ac": "NP_001014641",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate-gated chloride channel",
                    "type": "recommended"
                },
                {
                    "name": "CG7535-PL",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl",
                    "type": "synonym"
                },
                {
                    "name": "GluClalpha-PL",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-gated chloride channel subunit alpha, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-gated chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "indefinite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GluClalpha",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:HL07853",
                    "type": "synonym"
                },
                {
                    "name": "CG7535",
                    "type": "synonym"
                },
                {
                    "name": "CT23049",
                    "type": "synonym"
                },
                {
                    "name": "Dm-GluCl",
                    "type": "synonym"
                },
                {
                    "name": "DmGluClalpha",
                    "type": "synonym"
                },
                {
                    "name": "DmGlu",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7535",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7535",
                    "type": "synonym"
                },
                {
                    "name": "DrosGlu-Cl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl",
                    "type": "synonym"
                },
                {
                    "name": "GLUCL",
                    "type": "synonym"
                },
                {
                    "name": "GluCalpha",
                    "type": "synonym"
                },
                {
                    "name": "GluClalpha1",
                    "type": "synonym"
                },
                {
                    "name": "GluClalpha",
                    "type": "synonym"
                },
                {
                    "name": "GluCla",
                    "type": "synonym"
                },
                {
                    "name": "GluCl",
                    "type": "synonym"
                },
                {
                    "name": "dGluCl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "glc",
                    "type": "synonym"
                },
                {
                    "name": "gluClalpha",
                    "type": "synonym"
                },
                {
                    "name": "glu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94900-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDU9-1",
            "uniprot_ac": "Q9VDU9",
            "uniprot_id": "Q9VDU9_DROME",
            "refseq_ac": "NP_524406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7411-PA",
                    "type": "synonym"
                },
                {
                    "name": "Histamine-gated chloride channel subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Ora transientless",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor alpha2-like",
                    "type": "synonym"
                },
                {
                    "name": "histamine-gated chloride channel subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "indefinite",
                    "type": "synonym"
                },
                {
                    "name": "ora transientless",
                    "type": "synonym"
                },
                {
                    "name": "ort-PA",
                    "type": "synonym"
                },
                {
                    "name": "outer rhabdomere absent",
                    "type": "synonym"
                },
                {
                    "name": "outer rhabdomeres absent",
                    "type": "synonym"
                },
                {
                    "name": "outer rhabdomeres transientless",
                    "type": "synonym"
                },
                {
                    "name": "outer-rhabdomeres-absent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ort",
                    "type": "recommended"
                },
                {
                    "name": "CG7411",
                    "type": "synonym"
                },
                {
                    "name": "CT22815",
                    "type": "synonym"
                },
                {
                    "name": "DMHisClalpha1",
                    "type": "synonym"
                },
                {
                    "name": "Dm-hclA",
                    "type": "synonym"
                },
                {
                    "name": "DmHisCl2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7411",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7411",
                    "type": "synonym"
                },
                {
                    "name": "GluCI",
                    "type": "synonym"
                },
                {
                    "name": "HA-CI I",
                    "type": "synonym"
                },
                {
                    "name": "HclA",
                    "type": "synonym"
                },
                {
                    "name": "HisC12",
                    "type": "synonym"
                },
                {
                    "name": "HisCI2",
                    "type": "synonym"
                },
                {
                    "name": "HisCl-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "HisCl2",
                    "type": "synonym"
                },
                {
                    "name": "HisCl",
                    "type": "synonym"
                },
                {
                    "name": "Hist1",
                    "type": "synonym"
                },
                {
                    "name": "ORT",
                    "type": "synonym"
                },
                {
                    "name": "Ort",
                    "type": "synonym"
                },
                {
                    "name": "hclA",
                    "type": "synonym"
                },
                {
                    "name": "hisCl2",
                    "type": "synonym"
                },
                {
                    "name": "ora",
                    "type": "synonym"
                },
                {
                    "name": "ort",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDU9-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGI0-1",
            "uniprot_ac": "Q9VGI0",
            "uniprot_id": "Q9VGI0_DROME",
            "refseq_ac": "NP_731632",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14723-PA",
                    "type": "synonym"
                },
                {
                    "name": "HisCl1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Histamine-gated chloride channel subunit 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor alpha3 subunit-like",
                    "type": "synonym"
                },
                {
                    "name": "histamine-gated chloride channel subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HisCl1",
                    "type": "recommended"
                },
                {
                    "name": "CG14723",
                    "type": "synonym"
                },
                {
                    "name": "CT34515",
                    "type": "synonym"
                },
                {
                    "name": "DMHisClalpha2",
                    "type": "synonym"
                },
                {
                    "name": "Dm-HCLB",
                    "type": "synonym"
                },
                {
                    "name": "DmHisCl1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14723",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14723",
                    "type": "synonym"
                },
                {
                    "name": "HA-CI II",
                    "type": "synonym"
                },
                {
                    "name": "HisCl-alpha2",
                    "type": "synonym"
                },
                {
                    "name": "HisCl1",
                    "type": "synonym"
                },
                {
                    "name": "HisCl",
                    "type": "synonym"
                },
                {
                    "name": "hclB",
                    "type": "synonym"
                },
                {
                    "name": "hisCl1",
                    "type": "synonym"
                },
                {
                    "name": "hiscl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGI0-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4G1-1",
            "uniprot_ac": "Q9W4G1",
            "uniprot_id": "Q9W4G1_DROME",
            "refseq_ac": "NP_572194",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "pH-sensitive chloride channel 2",
                    "type": "recommended"
                },
                {
                    "name": "CG6927-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ligand-gated chloride channel protein hodor",
                    "type": "synonym"
                },
                {
                    "name": "glycine-gated chloride channel-like",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CT21430",
                    "type": "recommended"
                },
                {
                    "name": "CG6927",
                    "type": "synonym"
                },
                {
                    "name": "CT21430",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6927",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6927",
                    "type": "synonym"
                },
                {
                    "name": "Lcch-4D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4G1-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07585-1",
            "uniprot_ac": "P07585",
            "uniprot_id": "PGS2_HUMAN",
            "refseq_ac": "NP_001911",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Decorin",
                    "type": "recommended"
                },
                {
                    "name": "Bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "PG-S2",
                    "type": "synonym"
                },
                {
                    "name": "PG40",
                    "type": "synonym"
                },
                {
                    "name": "bone proteoglycan II",
                    "type": "synonym"
                },
                {
                    "name": "decorin isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "dermatan sulphate proteoglycans II",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan core protein",
                    "type": "synonym"
                },
                {
                    "name": "small leucine-rich protein 1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCN",
                    "type": "recommended"
                },
                {
                    "name": "CSCD",
                    "type": "synonym"
                },
                {
                    "name": "DCN",
                    "type": "synonym"
                },
                {
                    "name": "DSPG2",
                    "type": "synonym"
                },
                {
                    "name": "PG40",
                    "type": "synonym"
                },
                {
                    "name": "PGII",
                    "type": "synonym"
                },
                {
                    "name": "PGS2",
                    "type": "synonym"
                },
                {
                    "name": "SLRR1B",
                    "type": "synonym"
                }
            ],
            "record_id": "P07585-1",
            "evidence": [
                {
                    "id": "0070422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070422"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070422"
}