{
    "disease_id": "DOID:0111843",
    "recommended_name": {
        "id": "DOID:0111843",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111843",
        "name": "Paganini-Miozzo syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111843",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111843",
            "name": "MRXSPM",
            "description": ""
        },
        {
            "id": "MONDO:0026724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026724",
            "name": "Paganini-Miozzo syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0026724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026724",
            "name": "Paganini-Miozzo syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026724",
            "name": "mental retardation, X-Linked, syndromic, Paganini-Miozzo type",
            "description": ""
        },
        {
            "id": "MONDO:0026724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026724",
            "name": "MRXSPM",
            "description": ""
        },
        {
            "id": "MIM:301025",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301025",
            "name": "Paganini-Miozzo syndrome",
            "description": "Paganini-Miozzo syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111843"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111843",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111843",
            "categories": []
        },
        {
            "id": "MONDO:0026724",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026724",
            "categories": []
        },
        {
            "id": "MIM:301025",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301025",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q800H9-1",
            "uniprot_ac": "Q800H9",
            "uniprot_id": "H6ST2_DANRE",
            "refseq_ac": "NP_919402",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HS 6-OST-2",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST-2",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hs6st2",
                    "type": "recommended"
                },
                {
                    "name": "fb80f12",
                    "type": "synonym"
                },
                {
                    "name": "hs6st2",
                    "type": "synonym"
                },
                {
                    "name": "hs6st",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb80f12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q800H9-1",
            "evidence": [
                {
                    "id": "0111843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80UW0-1",
            "uniprot_ac": "Q80UW0",
            "uniprot_id": "H6ST2_MOUSE",
            "refseq_ac": "NP_001070670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST-2",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mHS6ST-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hs6st2",
                    "type": "recommended"
                },
                {
                    "name": "6OST2",
                    "type": "synonym"
                },
                {
                    "name": "Hs6st2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80UW0-1",
            "evidence": [
                {
                    "id": "0111843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MM7-1",
            "uniprot_ac": "Q96MM7",
            "uniprot_id": "H6ST2_HUMAN",
            "refseq_ac": "NP_001070656",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST-2",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 2 isoform L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HS6ST2",
                    "type": "recommended"
                },
                {
                    "name": "HS6ST2",
                    "type": "synonym"
                },
                {
                    "name": "MRXSPM",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0092",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MM7-1",
            "evidence": [
                {
                    "id": "301025",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301025"
                },
                {
                    "id": "0111843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEK5-1",
            "uniprot_ac": "D3ZEK5",
            "uniprot_id": "D3ZEK5_RAT",
            "refseq_ac": "NP_001178655",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "heparan-sulfate 6-O-sulfotransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hs6st2",
                    "type": "recommended"
                },
                {
                    "name": "Hs6st2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563872",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564397",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZEK5-1",
            "evidence": [
                {
                    "id": "0111843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111843"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDR6-1",
            "uniprot_ac": "Q9VDR6",
            "uniprot_id": "Q9VDR6_DROME",
            "refseq_ac": "NP_001262750",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-sulfate 6-O-sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "6-O sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG4451-PB",
                    "type": "synonym"
                },
                {
                    "name": "HS 6-O-sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Hs6st-PB",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate 6-O-sulfotransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate 6-O-sulfotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hs6st",
                    "type": "recommended"
                },
                {
                    "name": "CG11683",
                    "type": "synonym"
                },
                {
                    "name": "CG17188",
                    "type": "synonym"
                },
                {
                    "name": "CG18533",
                    "type": "synonym"
                },
                {
                    "name": "CG4451",
                    "type": "synonym"
                },
                {
                    "name": "DmHs6st",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4451",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4451",
                    "type": "synonym"
                },
                {
                    "name": "HS6ST",
                    "type": "synonym"
                },
                {
                    "name": "Hs6st",
                    "type": "synonym"
                },
                {
                    "name": "dHS6ST",
                    "type": "synonym"
                },
                {
                    "name": "hs6st",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDR6-1",
            "evidence": [
                {
                    "id": "0111843",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111843"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111843"
}