{
    "disease_id": "DOID:0081126",
    "recommended_name": {
        "id": "DOID:0081126",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081126",
        "name": "DeSanto-Shinawi syndrome",
        "description": "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11."
    },
    "synonyms": [
        {
            "id": "DOID:0081126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081126",
            "name": "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081126",
            "name": "Chromosome 10p12-p11 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081126",
            "name": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion",
            "description": ""
        },
        {
            "id": "DOID:0081126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081126",
            "name": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014741",
            "name": "DeSanto-Shinawi syndrome due to WAC point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014741",
            "name": "DESANTO-SHINAWI syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014741",
            "name": "DESSH",
            "description": ""
        },
        {
            "id": "MONDO:0014741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014741",
            "name": "Desanto-Shinawi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014741",
            "name": "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014741",
            "name": "developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities",
            "description": ""
        },
        {
            "id": "MIM:616708",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616708",
            "name": "DeSanto-Shinawi syndrome",
            "description": "DeSanto-Shinawi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081126"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081126",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081126",
            "categories": []
        },
        {
            "id": "MONDO:0014741",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014741",
            "categories": []
        },
        {
            "id": "MIM:616708",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616708",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZUK7-1",
            "uniprot_ac": "Q7ZUK7",
            "uniprot_id": "WAC_DANRE",
            "refseq_ac": "NP_955954",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing adapter protein with coiled-coil",
                    "type": "recommended"
                },
                {
                    "name": "WW domain-containing adapter protein with coiled-coil isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing adapter protein with coiled-coil",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing adapter with a coiled-coil region",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "waca",
                    "type": "recommended"
                },
                {
                    "name": "waca",
                    "type": "synonym"
                },
                {
                    "name": "wac",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc13f04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj68f01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55755",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZUK7-1",
            "evidence": [
                {
                    "id": "0081126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924H7-1",
            "uniprot_ac": "Q924H7",
            "uniprot_id": "WAC_MOUSE",
            "refseq_ac": "NP_001139770",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing adapter protein with coiled-coil",
                    "type": "recommended"
                },
                {
                    "name": "WW domain-containing adapter protein with coiled-coil isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing adapter protein with coiled-coil",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wac",
                    "type": "recommended"
                },
                {
                    "name": "1110067P07Rik",
                    "type": "synonym"
                },
                {
                    "name": "A230035H12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1844",
                    "type": "synonym"
                },
                {
                    "name": "Wac",
                    "type": "synonym"
                },
                {
                    "name": "Wwp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924H7-1",
            "evidence": [
                {
                    "id": "0081126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BTA9-1",
            "uniprot_ac": "Q9BTA9",
            "uniprot_id": "WAC_HUMAN",
            "refseq_ac": "NP_057712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing adapter protein with coiled-coil",
                    "type": "recommended"
                },
                {
                    "name": "WW domain-containing adapter protein with coiled-coil isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing adapter protein with coiled-coil",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WAC",
                    "type": "recommended"
                },
                {
                    "name": "BM-016",
                    "type": "synonym"
                },
                {
                    "name": "DESSH",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1844",
                    "type": "synonym"
                },
                {
                    "name": "PRO1741",
                    "type": "synonym"
                },
                {
                    "name": "WAC",
                    "type": "synonym"
                },
                {
                    "name": "Wwp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BTA9-1",
            "evidence": [
                {
                    "id": "616708",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616708"
                },
                {
                    "id": "0081126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VX88-1",
            "uniprot_ac": "Q9VX88",
            "uniprot_id": "WAC_DROME",
            "refseq_ac": "NP_001245725",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing adapter protein with coiled-coil homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG8949-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein wacky",
                    "type": "synonym"
                },
                {
                    "name": "wacky, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "wcy-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wcy",
                    "type": "recommended"
                },
                {
                    "name": "BP1032",
                    "type": "synonym"
                },
                {
                    "name": "CG34014",
                    "type": "synonym"
                },
                {
                    "name": "CG8949",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8949",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8949",
                    "type": "synonym"
                },
                {
                    "name": "XE14",
                    "type": "synonym"
                },
                {
                    "name": "wcy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VX88-1",
            "evidence": [
                {
                    "id": "0081126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081126"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081126"
}