{
    "disease_id": "DOID:0070538",
    "recommended_name": {
        "id": "DOID:0070538",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070538",
        "name": "syndromic X-linked intellectual developmental disorder bain type",
        "description": "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070538",
            "name": "HNRNPH2-RNDD",
            "description": ""
        },
        {
            "id": "DOID:0070538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070538",
            "name": "HNRNPH2-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "DOID:0070538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070538",
            "name": "MRXSB",
            "description": ""
        },
        {
            "id": "DOID:0070538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070538",
            "name": "Mental Retardation, X-linked, Syndrome, Bain Type",
            "description": ""
        },
        {
            "id": "MONDO:0010512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010512",
            "name": "intellectual disability, X-linked, syndromic, Bain type",
            "description": ""
        },
        {
            "id": "MONDO:0010512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010512",
            "name": "MRXSB",
            "description": ""
        },
        {
            "id": "MONDO:0010512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010512",
            "name": "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010512",
            "name": "intellectual disability, X-linked, syndromic, Bain type",
            "description": ""
        },
        {
            "id": "MONDO:0010512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010512",
            "name": "mental retardation, X-linked, syndromic, Bain type",
            "description": ""
        },
        {
            "id": "MIM:300986",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300986",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Bain type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Bain type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070538"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070538",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070538",
            "categories": []
        },
        {
            "id": "MONDO:0010512",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010512",
            "categories": []
        },
        {
            "id": "MIM:300986",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300986",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QFJ8-1",
            "uniprot_ac": "F1QFJ8",
            "uniprot_id": "F1QFJ8_DANRE",
            "refseq_ac": "NP_997754",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein H1, like",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H1, like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnrnph1l",
                    "type": "recommended"
                },
                {
                    "name": "fb19a06",
                    "type": "synonym"
                },
                {
                    "name": "hnrnph1l",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb19a06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55399",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85960",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QFJ8-1",
            "evidence": [
                {
                    "id": "0070538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70333-1",
            "uniprot_ac": "P70333",
            "uniprot_id": "HNRH2_MOUSE",
            "refseq_ac": "NP_001300645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein H2",
                    "type": "recommended"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein H'",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H'",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP H'",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP H2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnrnph2",
                    "type": "recommended"
                },
                {
                    "name": "DXHXS1271E",
                    "type": "synonym"
                },
                {
                    "name": "Ftp-3",
                    "type": "synonym"
                },
                {
                    "name": "Ftp3",
                    "type": "synonym"
                },
                {
                    "name": "H'",
                    "type": "synonym"
                },
                {
                    "name": "HNRNP",
                    "type": "synonym"
                },
                {
                    "name": "Hnrnph2",
                    "type": "synonym"
                },
                {
                    "name": "Hnrph2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70333-1",
            "evidence": [
                {
                    "id": "0070538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55795-1",
            "uniprot_ac": "P55795",
            "uniprot_id": "HNRH2_HUMAN",
            "refseq_ac": "NP_001027565",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein H2",
                    "type": "recommended"
                },
                {
                    "name": "FTP-3",
                    "type": "synonym"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein H'",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H-prime",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H2 (H')",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP H'",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP H2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNRNPH2",
                    "type": "recommended"
                },
                {
                    "name": "FTP3",
                    "type": "synonym"
                },
                {
                    "name": "HNRNPH2",
                    "type": "synonym"
                },
                {
                    "name": "HNRPH'",
                    "type": "synonym"
                },
                {
                    "name": "HNRPH2",
                    "type": "synonym"
                },
                {
                    "name": "MRXSB",
                    "type": "synonym"
                },
                {
                    "name": "NRPH2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPH'",
                    "type": "synonym"
                }
            ],
            "record_id": "P55795-1",
            "evidence": [
                {
                    "id": "300986",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300986"
                },
                {
                    "id": "0070538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY09-1",
            "uniprot_ac": "Q6AY09",
            "uniprot_id": "HNRH2_RAT",
            "refseq_ac": "NP_001014041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein H2",
                    "type": "recommended"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein H'",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H'",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H2 (H')",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein H2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP H'",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP H2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnrnph1",
                    "type": "recommended"
                },
                {
                    "name": "Hnrnph2",
                    "type": "recommended"
                },
                {
                    "name": "Hnrnph2",
                    "type": "synonym"
                },
                {
                    "name": "Hnrph1",
                    "type": "synonym"
                },
                {
                    "name": "Hnrph2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY09-1",
            "evidence": [
                {
                    "id": "0070538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGH5-1",
            "uniprot_ac": "Q9VGH5",
            "uniprot_id": "Q9VGH5_DROME",
            "refseq_ac": "NP_650120",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6946-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glorund, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Glorund, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Glorund, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "glo-PA",
                    "type": "synonym"
                },
                {
                    "name": "glorund, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "glorund",
                    "type": "synonym"
                },
                {
                    "name": "p67-K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glo",
                    "type": "recommended"
                },
                {
                    "name": "110/46",
                    "type": "synonym"
                },
                {
                    "name": "46",
                    "type": "synonym"
                },
                {
                    "name": "CG6946",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6946",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6946",
                    "type": "synonym"
                },
                {
                    "name": "Glo",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.328",
                    "type": "synonym"
                },
                {
                    "name": "cg6946",
                    "type": "synonym"
                },
                {
                    "name": "glo",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S011046",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S11046",
                    "type": "synonym"
                },
                {
                    "name": "p67-K",
                    "type": "synonym"
                },
                {
                    "name": "p67",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGH5-1",
            "evidence": [
                {
                    "id": "0070538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070538"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070538"
}