{
    "disease_id": "DOID:0060398",
    "recommended_name": {
        "id": "DOID:0060398",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060398",
        "name": "chromosome 16p11.2 deletion syndrome, 220-kb",
        "description": "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060398",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060398",
            "name": "distal 16p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal 16p11.2 microdeletion syndrome",
            "description": "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated."
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "body mass index QTL16",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "chromosome 16p11.2 deletion syndrome, type 220kb",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal 16p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal del(16)(p11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0013267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "name": "distal monosomy 16p11.2",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060398"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060398",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060398",
            "categories": []
        },
        {
            "id": "MONDO:0013267",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013267",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YZ82-1",
            "uniprot_ac": "A0A8M6YZ82",
            "uniprot_id": "A0A8M6YZ82_DANRE",
            "refseq_ac": "NP_001429707",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DKEYP-10C7.2",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adaptor protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sh2b3",
                    "type": "recommended"
                },
                {
                    "name": "sh2b3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-1e8.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YZ82-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O09039-1",
            "uniprot_ac": "O09039",
            "uniprot_id": "SH2B3_MOUSE",
            "refseq_ac": "NP_001293055",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Lymphocyte adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "linker of T-cell receptor pathways",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "signal transduction protein Lnk",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2b3",
                    "type": "recommended"
                },
                {
                    "name": "Lnk",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b3",
                    "type": "synonym"
                }
            ],
            "record_id": "O09039-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JID9-1",
            "uniprot_ac": "Q9JID9",
            "uniprot_id": "SH2B2_MOUSE",
            "refseq_ac": "NP_001289867",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein with pleckstrin homology and Src homology 2 domains",
                    "type": "synonym"
                },
                {
                    "name": "SH2 and PH domain-containing adapter protein APS",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 2",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein with pleckstrin homology and Src homology 2 domains",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein with pleckstrin homology and src homology 2 domains",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2b2",
                    "type": "recommended"
                },
                {
                    "name": "Aps",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JID9-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZM2-1",
            "uniprot_ac": "Q91ZM2",
            "uniprot_id": "SH2B1_MOUSE",
            "refseq_ac": "NP_001074928",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PSM",
                    "type": "synonym"
                },
                {
                    "name": "Pro-rich, PH and SH2 domain-containing signaling mediator",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "SH2-B PH domain containing signaling mediator 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2-B PH domain-containing signaling mediator 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pro-rich, PH and SH2 domain-containing signaling mediator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2b1",
                    "type": "recommended"
                },
                {
                    "name": "C530001K22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Irip",
                    "type": "synonym"
                },
                {
                    "name": "Psm",
                    "type": "synonym"
                },
                {
                    "name": "SH2-Bb",
                    "type": "synonym"
                },
                {
                    "name": "SH2-B",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b1",
                    "type": "synonym"
                },
                {
                    "name": "Sh2bpsm1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1299",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZM2-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z200-1",
            "uniprot_ac": "Q9Z200",
            "uniprot_id": "SH2B2_RAT",
            "refseq_ac": "NP_446121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein with pleckstrin homology and Src homology 2 domains",
                    "type": "synonym"
                },
                {
                    "name": "SH2 and PH domain-containing adapter protein APS",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 2",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein with pleckstrin homology and Src homology 2 domains",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein with pleckstrin homology and src homology 2 domains",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2b2",
                    "type": "recommended"
                },
                {
                    "name": "Aps",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z200-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62985-1",
            "uniprot_ac": "Q62985",
            "uniprot_id": "SH2B1_RAT",
            "refseq_ac": "NP_001041645",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FceRI gamma-chain-interacting protein SH2-B",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "SH2-B PH domain-containing signaling mediator 1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fceRI gamma-chain-interacting protein SH2-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh2b1",
                    "type": "recommended"
                },
                {
                    "name": "Sh2-b",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b1",
                    "type": "synonym"
                },
                {
                    "name": "Sh2bpsm1",
                    "type": "synonym"
                },
                {
                    "name": "Sh2b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62985-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LHY5-1",
            "uniprot_ac": "A0A0B4LHY5",
            "uniprot_id": "A0A0B4LHY5_DROME",
            "refseq_ac": "NP_001287536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17367-PD",
                    "type": "synonym"
                },
                {
                    "name": "Lnk, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Lnk-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lnk",
                    "type": "recommended"
                },
                {
                    "name": "CG 17367",
                    "type": "synonym"
                },
                {
                    "name": "CG17367",
                    "type": "synonym"
                },
                {
                    "name": "CG5908",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17367",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17367",
                    "type": "synonym"
                },
                {
                    "name": "LNK",
                    "type": "synonym"
                },
                {
                    "name": "Lnk",
                    "type": "synonym"
                },
                {
                    "name": "SH2B",
                    "type": "synonym"
                },
                {
                    "name": "dSH2B",
                    "type": "synonym"
                },
                {
                    "name": "lnk",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LHY5-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQQ2-1",
            "uniprot_ac": "Q9UQQ2",
            "uniprot_id": "SH2B3_HUMAN",
            "refseq_ac": "NP_001278353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Lymphocyte adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific adapter protein Lnk",
                    "type": "synonym"
                },
                {
                    "name": "signal transduction protein Lnk",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH2B3",
                    "type": "recommended"
                },
                {
                    "name": "IDDM20",
                    "type": "synonym"
                },
                {
                    "name": "LNK",
                    "type": "synonym"
                },
                {
                    "name": "SH2B3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQQ2-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14492-1",
            "uniprot_ac": "O14492",
            "uniprot_id": "SH2B2_HUMAN",
            "refseq_ac": "NP_001346157",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein with pleckstrin homology and Src homology 2 domains",
                    "type": "synonym"
                },
                {
                    "name": "SH2 and PH domain-containing adapter protein APS",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein with pleckstrin homology and Src homology 2 domains",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH2B2",
                    "type": "recommended"
                },
                {
                    "name": "APS",
                    "type": "synonym"
                },
                {
                    "name": "SH2B2",
                    "type": "synonym"
                }
            ],
            "record_id": "O14492-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRF2-1",
            "uniprot_ac": "Q9NRF2",
            "uniprot_id": "SH2B1_HUMAN",
            "refseq_ac": "NP_001139267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2B adapter protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PSM",
                    "type": "synonym"
                },
                {
                    "name": "Pro-rich, PH and SH2 domain-containing signaling mediator",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing putative adapter SH2-B",
                    "type": "synonym"
                },
                {
                    "name": "SH2-B signaling protein",
                    "type": "synonym"
                },
                {
                    "name": "SH2B adapter protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pro-rich, PH and SH2 domain-containing signaling mediator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH2B1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1299",
                    "type": "synonym"
                },
                {
                    "name": "PSM",
                    "type": "synonym"
                },
                {
                    "name": "SH2B1",
                    "type": "synonym"
                },
                {
                    "name": "SH2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRF2-1",
            "evidence": [
                {
                    "id": "0060398",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060398"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060398"
}