{
    "bcoid": "GLY_000526",
    "title": "Disease Names",
    "description": "",
    "filename_list": "protein_disease_names.csv",
    "filename": "protein_disease_names.csv",
    "filetype": "csv",
    "categories": {
        "molecule": [
            "Protein"
        ],
        "tag": [
            "Disease Names"
        ],
        "file_type": [
            "csv"
        ],
        "status": [
            "Reviewed"
        ],
        "scope": [
            "internal"
        ]
    },
    "minitable": {
        "content": [
            [
                "0033717...",
                "mondo..."
            ],
            [
                "0011078...",
                "mondo..."
            ]
        ],
        "headers": [
            "xref_id...",
            "xref_key..."
        ],
        "colwidth": [
            "40%",
            "20%"
        ]
    },
    "sampledata": {
        "type": "table",
        "data": [
            [
                {
                    "type": "string",
                    "label": "xref_id"
                },
                {
                    "type": "string",
                    "label": "xref_key"
                },
                {
                    "type": "string",
                    "label": "name_type"
                },
                {
                    "type": "string",
                    "label": "name"
                },
                {
                    "type": "string",
                    "label": "description"
                }
            ],
            [
                "0033717",
                "mondo",
                "recommended_name",
                "congenital cerebellar ataxia due to RNU12 mutation",
                "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume."
            ],
            [
                "0011078",
                "mondo",
                "recommended_name",
                "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis",
                "A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995."
            ]
        ]
    },
    "readme": "Name\n   - Disease Names\n\nVersion\n   - v-2.8.1\n\nCreated on\n  - 2020-08-19T14:13:07.626533\n\nModified on\n   - 2024-05-17T11:24:03.554Z\n\nCreated by\n   - Jeet Vora [jeetvora@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Luke Johnson [luke.johnson@email.gwu.edu], Urnisha Bhuiyan [sbhuiyan28@email.gwu.edu], Cyrus Au-Yeung [cyruschauyeung@gwu.edu], Kate Warner [k.warner1@gwu.edu]\n\nAuthors\n   - \n\nChecksum\n   - \n\nUsability Domain\n   - \n   - \n\nExecution Domain\n   Scripts\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: uniprot-proteome-arabidopsis-thaliana.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-arabidopsis-thaliana.nt\n      Name: uniprot-proteome-bos-taurus.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-bos-taurus.nt\n      Name: uniprot-proteome-cricetulus-griseus.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-cricetulus-griseus.nt\n      Name: uniprot-proteome-danio-rerio.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-danio-rerio.nt\n      Name: uniprot-proteome-dictyostelium-discoideum.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-dictyostelium-discoideum.nt\n      Name: uniprot-proteome-drosophila-melanogaster.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-drosophila-melanogaster.nt\n      Name: uniprot-proteome-gallus-gallus.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-gallus-gallus.nt\n      Name: uniprot-proteome-hepatitis-c-virus-1a.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-hepatitis-c-virus-1a.nt\n      Name: uniprot-proteome-hepatitis-c-virus-1b.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-hepatitis-c-virus-1b.nt\n      Name: uniprot-proteome-homo-sapiens.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-homo-sapiens.nt\n      Name: uniprot-proteome-mus-musculus.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-mus-musculus.nt\n      Name: uniprot-proteome-rattus-norvegicus.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-rattus-norvegicus.nt\n      Name: uniprot-proteome-saccharomyces-cerevisiae.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-saccharomyces-cerevisiae.nt\n      Name: uniprot-proteome-sars-coronavirus.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-sars-coronavirus.nt\n      Name: uniprot-proteome-sars-cov-2.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-sars-cov-2.nt\n      Name: uniprot-proteome-sus-scrofa.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-sus-scrofa.nt\n   Output Subdomain\n      Name: protein_disease_names.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.8.1/reviewed/protein_disease_names.csv\n      Name: protein_disease_names.stat.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.8.1/reviewed/protein_disease_names.stat.csv\n\nFields\n      Name: \"xref_id\"\n     Description: \"ID of the X-ref\"\n      Unique Values: \"59836\"\n      Name: \"xref_key\"\n     Description: \"Source key associated to the  xref_id\"\n      Unique Values: \"3\"\n      Name: \"name_type\"\n     Description: \"\"\n      Unique Values: \"2\"\n      Name: \"name\"\n     Description: \"\"\n      Unique Values: \"147540\"\n      Name: \"description\"\n     Description: \"\"\n      Unique Values: \"34657\"",
    "downloadurl": "/ln2data/releases/data/v-2.8.1/reviewed/protein_disease_names.csv"
}