{
    "disease_id": "DOID:0111266",
    "recommended_name": {
        "id": "DOID:0111266",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111266",
        "name": "geroderma osteodysplasticum",
        "description": "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111266",
            "name": "GO",
            "description": ""
        },
        {
            "id": "DOID:0111266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111266",
            "name": "Walt Disney dwarfism",
            "description": ""
        },
        {
            "id": "DOID:0111266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111266",
            "name": "geroderma osteodysplastica",
            "description": ""
        },
        {
            "id": "DOID:0111266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111266",
            "name": "gerodermia osteodysplastica",
            "description": ""
        },
        {
            "id": "MONDO:0009271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009271",
            "name": "geroderma osteodysplastica",
            "description": "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit."
        },
        {
            "id": "MONDO:0009271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009271",
            "name": "geroderma osteodysplastica",
            "description": ""
        },
        {
            "id": "MONDO:0009271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009271",
            "name": "GERODERMA OSTEODYSPLASTICUM",
            "description": ""
        },
        {
            "id": "MONDO:0009271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009271",
            "name": "GO",
            "description": ""
        },
        {
            "id": "MONDO:0009271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009271",
            "name": "Geroderma osteodysplasticum",
            "description": ""
        },
        {
            "id": "MIM:231070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231070",
            "name": "Geroderma osteodysplasticum",
            "description": "Geroderma osteodysplasticum"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111266"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111266",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111266",
            "categories": []
        },
        {
            "id": "MONDO:0009271",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009271",
            "categories": []
        },
        {
            "id": "MIM:231070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/231070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T320-1",
            "uniprot_ac": "Q7T320",
            "uniprot_id": "GORAB_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": "RAB6-interacting golgin",
                    "type": "recommended"
                },
                {
                    "name": "N-terminal kinase-like-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-BP1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like 1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-BP1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gorab",
                    "type": "recommended"
                },
                {
                    "name": "scyl1bp1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101095",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64162",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T320-1",
            "evidence": [
                {
                    "id": "0111266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BRM2-1",
            "uniprot_ac": "Q8BRM2",
            "uniprot_id": "GORAB_MOUSE",
            "refseq_ac": "NP_001300667",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAB6-interacting golgin",
                    "type": "recommended"
                },
                {
                    "name": "N-terminal kinase-like-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-BP1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RAB6-interacting golgin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RAB6-interacting golgin",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like 1 binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like 1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-BP1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mNTKL-BP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gorab",
                    "type": "recommended"
                },
                {
                    "name": "Gorab",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-BP1",
                    "type": "synonym"
                },
                {
                    "name": "Ntklbp1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-BP1",
                    "type": "synonym"
                },
                {
                    "name": "Scyl1bp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BRM2-1",
            "evidence": [
                {
                    "id": "0111266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T7V8-1",
            "uniprot_ac": "Q5T7V8",
            "uniprot_id": "GORAB_HUMAN",
            "refseq_ac": "NP_001307181",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAB6-interacting golgin",
                    "type": "recommended"
                },
                {
                    "name": "N-terminal kinase-like-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-BP1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RAB6-interacting golgin isoform c",
                    "type": "synonym"
                },
                {
                    "name": "RAB6-interacting golgin",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like 1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-BP1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hNTKL-BP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GORAB",
                    "type": "recommended"
                },
                {
                    "name": "GORAB",
                    "type": "synonym"
                },
                {
                    "name": "GO",
                    "type": "synonym"
                },
                {
                    "name": "NTKLBP1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1BP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T7V8-1",
            "evidence": [
                {
                    "id": "231070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/231070"
                },
                {
                    "id": "GORAB",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GORAB/#!details"
                },
                {
                    "id": "0111266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1H222-1",
            "uniprot_ac": "B1H222",
            "uniprot_id": "GORAB_RAT",
            "refseq_ac": "NP_001094033",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAB6-interacting golgin",
                    "type": "recommended"
                },
                {
                    "name": "N-terminal kinase-like-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-BP1",
                    "type": "synonym"
                },
                {
                    "name": "NTKL-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RAB6-interacting golgin",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like 1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-BP1",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gorab",
                    "type": "recommended"
                },
                {
                    "name": "Gorab",
                    "type": "synonym"
                },
                {
                    "name": "Ntklbp1",
                    "type": "synonym"
                },
                {
                    "name": "Scyl1bp1",
                    "type": "synonym"
                }
            ],
            "record_id": "B1H222-1",
            "evidence": [
                {
                    "id": "0111266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQQ4-1",
            "uniprot_ac": "Q8IQQ4",
            "uniprot_id": "GORAB_DROME",
            "refseq_ac": "NP_788523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAB6-interacting golgin",
                    "type": "recommended"
                },
                {
                    "name": "CG33052-PA",
                    "type": "synonym"
                },
                {
                    "name": "Golgin, RAB6 interacting",
                    "type": "synonym"
                },
                {
                    "name": "Gorab-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gorab",
                    "type": "recommended"
                },
                {
                    "name": "CG33052",
                    "type": "synonym"
                },
                {
                    "name": "CG3882",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33052",
                    "type": "synonym"
                },
                {
                    "name": "Gorab",
                    "type": "synonym"
                },
                {
                    "name": "gorab",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQQ4-1",
            "evidence": [
                {
                    "id": "0111266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111266"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111266"
}