{
    "disease_id": "DOID:0060481",
    "recommended_name": {
        "id": "DOID:0060481",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060481",
        "name": "Goldberg-Shprintzen syndrome",
        "description": "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060481",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060481",
            "name": "Goldberg-Shprintzen megacolon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "Goldberg-Shprintzen syndrome",
            "description": "A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability."
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "GOSHS",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "Goldberg-Shprintzen megacolon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "Goldberg-Shprintzen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "megacolon-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MIM:609460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609460",
            "name": "Goldberg-Shprintzen syndrome",
            "description": "Goldberg-Shprintzen syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060481"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060481",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060481",
            "categories": []
        },
        {
            "id": "MONDO:0012280",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "categories": []
        },
        {
            "id": "MIM:609460",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609460",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8WE67-1",
            "uniprot_ac": "A8WE67",
            "uniprot_id": "KBP_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "KIF-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "KIF1-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kifbp",
                    "type": "recommended"
                },
                {
                    "name": "fc59b03",
                    "type": "synonym"
                },
                {
                    "name": "kbp",
                    "type": "synonym"
                },
                {
                    "name": "kiaa1279",
                    "type": "synonym"
                },
                {
                    "name": "kif1bp",
                    "type": "synonym"
                },
                {
                    "name": "unst23",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc59b03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112085",
                    "type": "synonym"
                }
            ],
            "record_id": "A8WE67-1",
            "evidence": [
                {
                    "id": "0060481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZPU9-1",
            "uniprot_ac": "Q6ZPU9",
            "uniprot_id": "KBP_MOUSE",
            "refseq_ac": "NP_082473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KIF-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "KIF-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "KIF1 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "KIF1-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kifbp",
                    "type": "recommended"
                },
                {
                    "name": "0710007C18Rik",
                    "type": "synonym"
                },
                {
                    "name": "2510003E04Rik",
                    "type": "synonym"
                },
                {
                    "name": "KBP",
                    "type": "synonym"
                },
                {
                    "name": "Kbp",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1279",
                    "type": "synonym"
                },
                {
                    "name": "Kif1bp",
                    "type": "synonym"
                },
                {
                    "name": "Kifbp",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1279",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZPU9-1",
            "evidence": [
                {
                    "id": "0060481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EK5-1",
            "uniprot_ac": "Q96EK5",
            "uniprot_id": "KBP_HUMAN",
            "refseq_ac": "NP_056449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KIF-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "KIF-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "KIF1-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin family binding protein",
                    "type": "synonym"
                },
                {
                    "name": "kinesin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mutant KIF1 binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIFBP",
                    "type": "recommended"
                },
                {
                    "name": "KBP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1279",
                    "type": "synonym"
                },
                {
                    "name": "KIF1BP",
                    "type": "synonym"
                },
                {
                    "name": "KIFBP",
                    "type": "synonym"
                },
                {
                    "name": "TTC20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EK5-1",
            "evidence": [
                {
                    "id": "609460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609460"
                },
                {
                    "id": "0060481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G074-1",
            "uniprot_ac": "Q4G074",
            "uniprot_id": "KBP_RAT",
            "refseq_ac": "NP_001026797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KIF-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "KIF-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "KIF1 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "KIF1-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kifbp",
                    "type": "recommended"
                },
                {
                    "name": "Kbp",
                    "type": "synonym"
                },
                {
                    "name": "Kif1bp",
                    "type": "synonym"
                },
                {
                    "name": "Kifbp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G074-1",
            "evidence": [
                {
                    "id": "0060481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMX1-1",
            "uniprot_ac": "Q9VMX1",
            "uniprot_id": "KBP_DROME",
            "refseq_ac": "NP_608886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "KIF-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "CG14043-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein KBP",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG14043",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14043",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMX1-1",
            "evidence": [
                {
                    "id": "0060481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060481"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060481"
}