{
    "disease_id": "DOID:0111234",
    "recommended_name": {
        "id": "DOID:0111234",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111234",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A7",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111234",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related",
            "description": ""
        },
        {
            "id": "DOID:0111234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111234",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7",
            "description": ""
        },
        {
            "id": "DOID:0111234",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111234",
            "name": "MDDGA7",
            "description": ""
        },
        {
            "id": "MONDO:0013835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013835",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
            "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene."
        },
        {
            "id": "MONDO:0013835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013835",
            "name": "ISPD muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0013835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013835",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related",
            "description": ""
        },
        {
            "id": "MONDO:0013835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013835",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013835",
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD",
            "description": ""
        },
        {
            "id": "MONDO:0013835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013835",
            "name": "MDDGA7",
            "description": ""
        },
        {
            "id": "MIM:614643",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614643",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111234"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111234",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111234",
            "categories": []
        },
        {
            "id": "MONDO:0013835",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013835",
            "categories": []
        },
        {
            "id": "MIM:614643",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614643",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0JPF9-1",
            "uniprot_ac": "A0JPF9",
            "uniprot_id": "ISPD_DANRE",
            "refseq_ac": "NP_001071270",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.40",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "notch1-induced protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crppa",
                    "type": "recommended"
                },
                {
                    "name": "crppa",
                    "type": "synonym"
                },
                {
                    "name": "ispd",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu371",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154151",
                    "type": "synonym"
                }
            ],
            "record_id": "A0JPF9-1",
            "evidence": [
                {
                    "id": "0111234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RJG7-1",
            "uniprot_ac": "Q5RJG7",
            "uniprot_id": "ISPD_MOUSE",
            "refseq_ac": "NP_001276431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.40",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "notch1-induced protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crppa",
                    "type": "recommended"
                },
                {
                    "name": "4930579E17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Crppa",
                    "type": "synonym"
                },
                {
                    "name": "Ispd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RJG7-1",
            "evidence": [
                {
                    "id": "0111234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A4D126-1",
            "uniprot_ac": "A4D126",
            "uniprot_id": "ISPD_HUMAN",
            "refseq_ac": "NP_001094887",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.40",
                    "type": "synonym"
                },
                {
                    "name": "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "hISPD",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "notch1-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 97",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRPPA",
                    "type": "recommended"
                },
                {
                    "name": "CRPPA",
                    "type": "synonym"
                },
                {
                    "name": "ISPD",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR20",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA7",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC7",
                    "type": "synonym"
                },
                {
                    "name": "Nip",
                    "type": "synonym"
                },
                {
                    "name": "hISPD",
                    "type": "synonym"
                }
            ],
            "record_id": "A4D126-1",
            "evidence": [
                {
                    "id": "0013835",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013835"
                },
                {
                    "id": "614643",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614643"
                },
                {
                    "id": "ISPD",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ISPD/#!details"
                },
                {
                    "id": "0111234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111234"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5S6T3-1",
            "uniprot_ac": "Q5S6T3",
            "uniprot_id": "ISPD_RAT",
            "refseq_ac": "NP_001008387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.40",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Notch1-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "notch1-induced protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crppa",
                    "type": "recommended"
                },
                {
                    "name": "Crppa",
                    "type": "synonym"
                },
                {
                    "name": "Ispd",
                    "type": "synonym"
                },
                {
                    "name": "Nip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5S6T3-1",
            "evidence": [
                {
                    "id": "0111234",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111234"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111234"
}