{
    "bcoid": "GLY_001463",
    "title": "Human Disease Xref HPO",
    "description": "The Human Phenotype Ontology (HPO) xref disease dataset contains Homo sapiens [taxid:9606] UniProtKB ...",
    "filename_list": "human_disease_xref_hpo.csv",
    "filename": "human_disease_xref_hpo.csv",
    "filetype": "csv",
    "categories": {
        "species": [
            "Homo sapiens"
        ],
        "molecule": [
            "Protein"
        ],
        "tag": [
            "HPO disease cross-references"
        ],
        "file_type": [
            "csv"
        ],
        "status": [
            "Reviewed"
        ],
        "scope": [
            "internal"
        ]
    },
    "minitable": {
        "content": [
            [
                "DOID:2058...",
                "disease_xref..."
            ],
            [
                "MONDO:000954...",
                "disease_xref..."
            ]
        ],
        "headers": [
            "disease_id...",
            "xref_key..."
        ],
        "colwidth": [
            "40%",
            "20%"
        ]
    },
    "sampledata": {
        "type": "table",
        "data": [
            [
                {
                    "type": "string",
                    "label": "disease_id"
                },
                {
                    "type": "string",
                    "label": "xref_key"
                },
                {
                    "type": "string",
                    "label": "xref_id"
                },
                {
                    "type": "string",
                    "label": "xref_label"
                }
            ],
            [
                "DOID:2058",
                "disease_xref_hpo",
                "MIM:212050",
                ""
            ],
            [
                "MONDO:0009544",
                "disease_xref_hpo",
                "MIM:248000",
                ""
            ]
        ]
    },
    "readme": "Name\n   - Human Disease Xref HPO\n\nVersion\n   - v-2.10.1\n\nModified on\n   - 2025-10-20T11:11:44.665Z\n\nCreated by\n   - Jeet Vora [jeetvora@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Urnisha Bhuiyan [sbhuiyan28@email.gwu.edu], Kate Warner [k.warner1@gwu.edu], Mariia Kim [maria.kim@gwu.edu]\n\nAuthors\n   - \n\nChecksum\n   - \n\nUsability Domain\n   - The Human Phenotype Ontology (HPO) xref disease dataset contains Homo sapiens [taxid:9606] UniProtKB canonical accessions cross-referenced to MIM disease accessions/identifiers in the HPO database. If you use this dataset please provide proper attribution to GlyGen and HPO.\n   - The HPO database provides a standardized vocabulary of phenotypic abnormalities encountered in human disease.\n\nDescription Domain\n   Keywords\n   - HPO\n   - cross-reference\n   - phenotype ontology\n   - disease\n\n   Pipeline Steps\n   - Step-1: The script parses the HPO genes_to_disease csv file to extract the MIM disease IDs in HPO and then maps them to the UniProtKB Canonical accessions.\n\nExecution Domain\n   Scripts   - https://github.com/glygener/glygen-backend-integration/blob/master/dataset-maker/make-protein-dataset.py\n\n\n   Software Prerequisites\n      Name: Python\n      Version: 2.7.5\n      URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n   Input Subdomain\n      Name: species_info.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.10.1/misc/species_info.csv\n   Output Subdomain\n      Name: human_disease_xref_hpo.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.10.1/reviewed/human_disease_xref_hpo.csv\n      Name: human_disease_xref_hpo.stat.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.10.1/reviewed/human_disease_xref_hpo.stat.csv\n\nFields\n      Name: \"disease_id\"\n     Description: \"\"\n      Unique Values: \"6816\"\n      Name: \"xref_key\"\n     Description: \"Source key associated to the  xref_id\"\n      Unique Values: \"1\"\n      Name: \"xref_id\"\n     Description: \"ID of the X-ref\"\n      Unique Values: \"6741\"\n      Name: \"xref_label\"\n     Description: \"Label/Name associated with x-ref\"\n      Unique Values: \"1\"",
    "downloadurl": "/ln2data/releases/data/v-2.10.1/reviewed/human_disease_xref_hpo.csv"
}