{
    "disease_id": "DOID:0060812",
    "recommended_name": {
        "id": "DOID:0060812",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060812",
        "name": "syndromic X-linked intellectual disability Siderius type",
        "description": "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0060812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060812",
            "name": "mental retardation syndrome, X-linked, Siderius type",
            "description": ""
        },
        {
            "id": "DOID:0060812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060812",
            "name": "MRXSSD",
            "description": ""
        },
        {
            "id": "DOID:0060812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060812",
            "name": "Siderius X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060812",
            "name": "Siderius-Hamel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "syndromic X-linked intellectual disability Siderius type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "MRXSSD",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "Siderius X-linked intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "Siderius X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "Siderius-Hamel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "intellectual disability syndrome, X-linked, Siderius type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "syndromic X-linked intellectual disability Siderius type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "Siderius Hamel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "X-linked intellectual disability Hamel type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "X-linked mental retardation Hamel type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "intellectual deficit X-linked Siderius type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "intellectual disability X-linked Siderius type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "mental retardation X-linked Siderius type",
            "description": ""
        },
        {
            "id": "MONDO:0010286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "name": "mental retardation, X-linked, syndromic, Siderius type",
            "description": ""
        },
        {
            "id": "MIM:300263",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300263",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Siderius type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Siderius type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060812"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060812",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060812",
            "categories": []
        },
        {
            "id": "MONDO:0010286",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010286",
            "categories": []
        },
        {
            "id": "MIM:300263",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300263",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0CH95-1",
            "uniprot_ac": "P0CH95",
            "uniprot_id": "PHF8_DANRE",
            "refseq_ac": "NP_001189376",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone lysine demethylase PHF8",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.-",
                    "type": "synonym"
                },
                {
                    "name": "1.14.11.65",
                    "type": "synonym"
                },
                {
                    "name": "PHD finger protein 8",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(36) demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(9) demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "histone lysine demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "zPHF8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "phf8",
                    "type": "recommended"
                },
                {
                    "name": "phf8",
                    "type": "synonym"
                },
                {
                    "name": "zPHF8",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CH95-1",
            "evidence": [
                {
                    "id": "0060812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80TJ7-1",
            "uniprot_ac": "Q80TJ7",
            "uniprot_id": "PHF8_MOUSE",
            "refseq_ac": "NP_001106825",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone lysine demethylase PHF8",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.-",
                    "type": "synonym"
                },
                {
                    "name": "1.14.11.65",
                    "type": "synonym"
                },
                {
                    "name": "PHD finger protein 8",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(36) demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(9) demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "histone lysine demethylase PHF8 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "histone lysine demethylase PHF8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phf8",
                    "type": "recommended"
                },
                {
                    "name": "9830141C09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1111",
                    "type": "synonym"
                },
                {
                    "name": "Phf8",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1111",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80TJ7-1",
            "evidence": [
                {
                    "id": "0060812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPP1-1",
            "uniprot_ac": "Q9UPP1",
            "uniprot_id": "PHF8_HUMAN",
            "refseq_ac": "NP_001171825",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone lysine demethylase PHF8",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.-",
                    "type": "synonym"
                },
                {
                    "name": "1.14.11.65",
                    "type": "synonym"
                },
                {
                    "name": "Lysine demethylase 7B",
                    "type": "synonym"
                },
                {
                    "name": "PHD finger protein 8",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(36) demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(9) demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "histone lysine demethylase PHF8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone lysine demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "jumonji C domain-containing histone demethylase 1F",
                    "type": "synonym"
                },
                {
                    "name": "lysine demethylase 7B",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 422",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHF8",
                    "type": "recommended"
                },
                {
                    "name": "JHDM1F",
                    "type": "synonym"
                },
                {
                    "name": "KDM7B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1111",
                    "type": "synonym"
                },
                {
                    "name": "MRXSSD",
                    "type": "synonym"
                },
                {
                    "name": "PHF8",
                    "type": "synonym"
                },
                {
                    "name": "ZNF422",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPP1-1",
            "evidence": [
                {
                    "id": "300263",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300263"
                },
                {
                    "id": "0060812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40034-1",
            "uniprot_ac": "P40034",
            "uniprot_id": "JHD1_YEAST",
            "refseq_ac": "NP_010971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "JmjC domain-containing histone demethylation protein 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.27",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji/ARID domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ScJHDM1",
                    "type": "synonym"
                },
                {
                    "name": "[Histone H3]-lysine-36 demethylase",
                    "type": "synonym"
                },
                {
                    "name": "[Histone-H3]-lysine-36 demethylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JHD1",
                    "type": "recommended"
                },
                {
                    "name": "JHD1",
                    "type": "synonym"
                },
                {
                    "name": "KDM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P40034-1",
            "evidence": [
                {
                    "id": "0060812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJ51-1",
            "uniprot_ac": "D3ZJ51",
            "uniprot_id": "D3ZJ51_RAT",
            "refseq_ac": "NP_001100235",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PHD finger protein 8 like",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC299557",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phf8l",
                    "type": "recommended"
                },
                {
                    "name": "Phf8l",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310212",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJ51-1",
            "evidence": [
                {
                    "id": "0060812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AD31-1",
            "uniprot_ac": "D4AD31",
            "uniprot_id": "D4AD31_RAT",
            "refseq_ac": "NP_001101723",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone lysine demethylase PHF8",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.65",
                    "type": "synonym"
                },
                {
                    "name": "PHD finger protein 8",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-dimethyl-L-lysine(9) demethylase PHF8",
                    "type": "synonym"
                },
                {
                    "name": "histone lysine demethylase PHF8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone lysine demethylase PHF8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phf8",
                    "type": "recommended"
                },
                {
                    "name": "Phf8",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561065",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AD31-1",
            "evidence": [
                {
                    "id": "0060812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060812"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060812"
}