{
    "disease_id": "DOID:0080354",
    "recommended_name": {
        "id": "DOID:0080354",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080354",
        "name": "Phelan-McDermid syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development."
    },
    "synonyms": [
        {
            "id": "DOID:0080354",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080354",
            "name": "22q13.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080354",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080354",
            "name": "monosomy 22q13 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "Phelan-McDermid syndrome",
            "description": "A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene."
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "PHMDS",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "Phelan McDermid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "Phelan-McDermid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "22q13 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "monosomy 22q13",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "monosomy type 22q13",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "22q13.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "name": "deletion 22q13.3 syndrome",
            "description": ""
        },
        {
            "id": "MIM:606232",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606232",
            "name": "Phelan-McDermid syndrome",
            "description": "Phelan-McDermid syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080354"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080354",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080354",
            "categories": []
        },
        {
            "id": "MONDO:0011652",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011652",
            "categories": []
        },
        {
            "id": "MIM:606232",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606232",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0AC58HWG2",
            "uniprot_id": "A0AC58HWG2_DANRE",
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            "glycoprotein": "no",
            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
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                    "name": "SH3 and multiple ankyrin repeat domains protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
                },
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                }
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                }
            ]
        },
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                }
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            ],
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                }
            ],
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                },
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                    "name": "mKIAA0292",
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                    "id": "0080354",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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            ],
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                {
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                }
            ],
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                    "name": "SHANK3",
                    "type": "recommended"
                },
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                {
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                {
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            ],
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080354"
}