{
    "disease_id": "DOID:0060800",
    "recommended_name": {
        "id": "DOID:0060800",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060800",
        "name": "syndromic X-linked intellectual disability 5",
        "description": "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "Fried syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "MRX59",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "MRXS21",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "Mental retardation, X-linked syndromic 5",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "Pettigrew syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "X-linked mental retardation 59",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "syndromic X-linked mental retardation 21",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "syndromic X-linked mental retardation Fried type",
            "description": ""
        },
        {
            "id": "DOID:0060800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "name": "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "syndromic X-linked intellectual disability 5",
            "description": "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition."
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "MRX59",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "MRXS21",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "Pettigrew syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "Pettigrew syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "X-linked intellectual disability 59",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "intellectual disability, X-linked syndromic 5",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "syndromic X-linked intellectual disability 21",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "syndromic X-linked intellectual disability fried type",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "syndromic X-linked intellectual disability type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "MRXS5",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "PETTIGREW syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "PGS",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "intellectual disability X-linked syndromic 5",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "mental retardation X-linked syndromic 5",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "mental retardation, X-linked 59",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "mental retardation, X-linked, syndromic 21",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "mental retardation, X-linked, syndromic 5",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "mental retardation, X-linked, syndromic, fried type",
            "description": ""
        },
        {
            "id": "MONDO:0010574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "name": "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures",
            "description": ""
        },
        {
            "id": "MIM:304340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304340",
            "name": "Pettigrew syndrome",
            "description": "Pettigrew syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060800"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060800",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060800",
            "categories": []
        },
        {
            "id": "MONDO:0010574",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010574",
            "categories": []
        },
        {
            "id": "MIM:304340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/304340",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DB50-1",
            "uniprot_ac": "Q9DB50",
            "uniprot_id": "AP1S2_MOUSE",
            "refseq_ac": "NP_001277307",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-1 complex subunit sigma-2",
                    "type": "recommended"
                },
                {
                    "name": "AP-1 complex subunit sigma-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "AP-1 complex subunit sigma-2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-1 subunit sigma-1B",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 1 subunit sigma-1B",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1B small chain",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor HA1/AP1 adaptin sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1B subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 1B",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1B-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 1 subunit sigma-1B",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 1 sigma-1B small chain",
                    "type": "synonym"
                },
                {
                    "name": "golgi adaptor HA1/AP1 adaptin sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1B subunit of AP-1 clathrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap1s2",
                    "type": "recommended"
                },
                {
                    "name": "1500012A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ap1s2",
                    "type": "synonym"
                },
                {
                    "name": "EST1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB50-1",
            "evidence": [
                {
                    "id": "0060800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56377-1",
            "uniprot_ac": "P56377",
            "uniprot_id": "AP1S2_HUMAN",
            "refseq_ac": "NP_003907",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-1 complex subunit sigma-2",
                    "type": "recommended"
                },
                {
                    "name": "AP-1 complex subunit sigma-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "AP-1 complex subunit sigma-2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-1 subunit sigma-1B",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 1 subunit sigma-1B",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1B small chain",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor HA1/AP1 adaptin sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1B subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 1B",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1B-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 1 sigma 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 1 subunit sigma-1B",
                    "type": "synonym"
                },
                {
                    "name": "clathrin adaptor complex AP1 sigma 1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 1 sigma-1B small chain",
                    "type": "synonym"
                },
                {
                    "name": "golgi adaptor HA1/AP1 adaptin sigma-1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "sigma1B-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP1S2",
                    "type": "recommended"
                },
                {
                    "name": "AP1S2",
                    "type": "synonym"
                },
                {
                    "name": "DC22",
                    "type": "synonym"
                },
                {
                    "name": "MRX59",
                    "type": "synonym"
                },
                {
                    "name": "MRXS21",
                    "type": "synonym"
                },
                {
                    "name": "MRXS5",
                    "type": "synonym"
                },
                {
                    "name": "MRXSF",
                    "type": "synonym"
                },
                {
                    "name": "PGS",
                    "type": "synonym"
                },
                {
                    "name": "SIGMA1B",
                    "type": "synonym"
                }
            ],
            "record_id": "P56377-1",
            "evidence": [
                {
                    "id": "304340",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/304340"
                },
                {
                    "id": "0060800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35181-1",
            "uniprot_ac": "P35181",
            "uniprot_id": "AP1S1_YEAST",
            "refseq_ac": "NP_013271",
            "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": "AP-1 complex subunit sigma-1",
                    "type": "recommended"
                },
                {
                    "name": "Aps1p",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1 small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor AP-1 19 kDa adaptin",
                    "type": "synonym"
                },
                {
                    "name": "HA1 19 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APS1",
                    "type": "recommended"
                },
                {
                    "name": "APS1",
                    "type": "synonym"
                },
                {
                    "name": "L9470.16",
                    "type": "synonym"
                },
                {
                    "name": "YAP19",
                    "type": "synonym"
                }
            ],
            "record_id": "P35181-1",
            "evidence": [
                {
                    "id": "0060800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZVG9-1",
            "uniprot_ac": "A0A8I5ZVG9",
            "uniprot_id": "A0A8I5ZVG9_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP complex subunit sigma",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap1s2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZVG9-1",
            "evidence": [
                {
                    "id": "0060800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060800"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060800"
}