{
    "disease_id": "DOID:0060853",
    "recommended_name": {
        "id": "DOID:0060853",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060853",
        "name": "Potocki-Lupski syndrome",
        "description": "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060853",
            "name": "17p11.2 microduplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060853",
            "name": "chromosome 17p11.2 duplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060853",
            "name": "trisomy 17p11.2",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "Potocki-Lupski syndrome",
            "description": "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated."
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "17p11.2 Duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "17p11.2 microduplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "Potocki-Lupski syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "Potocki-Lupski syndrome, Isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "chromosome 17p11.2 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "trisomy 17p11.2",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "Duplication 17p11.2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "PTLS",
            "description": ""
        },
        {
            "id": "MONDO:0012574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "name": "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060853"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060853",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060853",
            "categories": []
        },
        {
            "id": "MONDO:0012574",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012574",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61818-1",
            "uniprot_ac": "Q61818",
            "uniprot_id": "RAI1_MOUSE",
            "refseq_ac": "NP_001032853",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid-induced protein 1",
                    "type": "recommended"
                },
                {
                    "name": "retinoic acid-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rai1",
                    "type": "recommended"
                },
                {
                    "name": "Gt1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1820",
                    "type": "synonym"
                },
                {
                    "name": "Rai1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61818-1",
            "evidence": [
                {
                    "id": "0060853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K4G0-1",
            "uniprot_ac": "A0A0G2K4G0",
            "uniprot_id": "A0A0G2K4G0_RAT",
            "refseq_ac": "NP_001258136",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid induced 1",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rai1",
                    "type": "recommended"
                },
                {
                    "name": "Rai1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K4G0-1",
            "evidence": [
                {
                    "id": "0060853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z5J4-1",
            "uniprot_ac": "Q7Z5J4",
            "uniprot_id": "RAI1_HUMAN",
            "refseq_ac": "NP_109590",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid-induced protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Smith-Magenis syndrome chromosome region",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAI1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1820",
                    "type": "synonym"
                },
                {
                    "name": "RAI1",
                    "type": "synonym"
                },
                {
                    "name": "SMCR",
                    "type": "synonym"
                },
                {
                    "name": "SMS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z5J4-1",
            "evidence": [
                {
                    "id": "0060853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060853"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060853"
}