{
    "disease_id": "DOID:0051048",
    "recommended_name": {
        "id": "DOID:0051048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051048",
        "name": "congenital disorder of glycosylation type IIr",
        "description": "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "MONDO:0026765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026765",
            "name": "congenital disorder of glycosylation, type IIr",
            "description": ""
        },
        {
            "id": "MONDO:0026765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026765",
            "name": "congenital disorder of glycosylation, type IIr, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026765",
            "name": "CDG2R",
            "description": ""
        },
        {
            "id": "MIM:301045",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301045",
            "name": "Congenital disorder of glycosylation 2R",
            "description": "Congenital disorder of glycosylation 2R"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051048"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051048",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051048",
            "categories": []
        },
        {
            "id": "MONDO:0026765",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026765",
            "categories": []
        },
        {
            "id": "MIM:301045",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301045",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A286YA30-1",
            "uniprot_ac": "A0A286YA30",
            "uniprot_id": "A0A286YA30_DANRE",
            "refseq_ac": "XP_009294369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin receptor",
                    "type": "recommended"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Renin/prorenin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp6ap2",
                    "type": "recommended"
                },
                {
                    "name": "atp6ap2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj36c03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fq15e04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73194",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A286YA30-1",
            "evidence": [
                {
                    "id": "0051048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CYN9-1",
            "uniprot_ac": "Q9CYN9",
            "uniprot_id": "RENR_MOUSE",
            "refseq_ac": "NP_081715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin receptor",
                    "type": "recommended"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Renin/prorenin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin/prorenin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6ap2",
                    "type": "recommended"
                },
                {
                    "name": "(P)RR",
                    "type": "synonym"
                },
                {
                    "name": "5730403E06Rik",
                    "type": "synonym"
                },
                {
                    "name": "APT6M8-9",
                    "type": "synonym"
                },
                {
                    "name": "ATP6M8-9",
                    "type": "synonym"
                },
                {
                    "name": "Atp6ap2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6ip2",
                    "type": "synonym"
                },
                {
                    "name": "M8-9",
                    "type": "synonym"
                },
                {
                    "name": "PRR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CYN9-1",
            "evidence": [
                {
                    "id": "0051048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75787-1",
            "uniprot_ac": "O75787",
            "uniprot_id": "RENR_HUMAN",
            "refseq_ac": "NP_005756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin receptor",
                    "type": "recommended"
                },
                {
                    "name": "ATP6M8-9",
                    "type": "synonym"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ER-localized type I transmembrane adapter",
                    "type": "synonym"
                },
                {
                    "name": "ER-localized type I transmembrane adaptor",
                    "type": "synonym"
                },
                {
                    "name": "Embryonic liver differentiation factor 10",
                    "type": "synonym"
                },
                {
                    "name": "N14F",
                    "type": "synonym"
                },
                {
                    "name": "Renin/prorenin receptor",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase M8.9 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar ATP synthase membrane sector-associated protein M8-9",
                    "type": "synonym"
                },
                {
                    "name": "embryonic liver differentiation factor 10",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin/prorenin receptor",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATP synthase membrane sector-associated protein M8-9",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton ATP synthase membrane sector associated protein M8-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6AP2",
                    "type": "recommended"
                },
                {
                    "name": "(P)RR",
                    "type": "synonym"
                },
                {
                    "name": "APT6M8-9",
                    "type": "synonym"
                },
                {
                    "name": "ATP6AP2",
                    "type": "synonym"
                },
                {
                    "name": "ATP6IP2",
                    "type": "synonym"
                },
                {
                    "name": "ATP6M8-9",
                    "type": "synonym"
                },
                {
                    "name": "CAPER",
                    "type": "synonym"
                },
                {
                    "name": "CDG2R",
                    "type": "synonym"
                },
                {
                    "name": "ELDF10",
                    "type": "synonym"
                },
                {
                    "name": "HT028",
                    "type": "synonym"
                },
                {
                    "name": "M8-9",
                    "type": "synonym"
                },
                {
                    "name": "MRXE",
                    "type": "synonym"
                },
                {
                    "name": "MRXSH",
                    "type": "synonym"
                },
                {
                    "name": "MSTP009",
                    "type": "synonym"
                },
                {
                    "name": "PRR",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0072",
                    "type": "synonym"
                },
                {
                    "name": "RENR",
                    "type": "synonym"
                },
                {
                    "name": "XMRE",
                    "type": "synonym"
                },
                {
                    "name": "XPDS",
                    "type": "synonym"
                }
            ],
            "record_id": "O75787-1",
            "evidence": [
                {
                    "id": "301045",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301045"
                },
                {
                    "id": "0051048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AXS4-1",
            "uniprot_ac": "Q6AXS4",
            "uniprot_id": "RENR_RAT",
            "refseq_ac": "NP_001007092",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin receptor",
                    "type": "recommended"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase H(+)-transporting lysosomal-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H(+)-transporting, lysosomal-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Renin/prorenin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin/prorenin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6ap2",
                    "type": "recommended"
                },
                {
                    "name": "Atp6ap2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6ip2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AXS4-1",
            "evidence": [
                {
                    "id": "0051048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHG4-1",
            "uniprot_ac": "Q9VHG4",
            "uniprot_id": "RENR_DROME",
            "refseq_ac": "NP_649876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase H(+)-transporting accessory protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ATP6AP2-PA",
                    "type": "synonym"
                },
                {
                    "name": "ATPase H+ transporting accessory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CG8444-PA",
                    "type": "synonym"
                },
                {
                    "name": "Renin homolog receptor",
                    "type": "synonym"
                },
                {
                    "name": "dPRR",
                    "type": "synonym"
                },
                {
                    "name": "drosophila homologue of prorenin receptor",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase M8.9 accessory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6AP2",
                    "type": "recommended"
                },
                {
                    "name": "ATP6AP2",
                    "type": "synonym"
                },
                {
                    "name": "CG8444",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8444",
                    "type": "synonym"
                },
                {
                    "name": "VhaM8-9",
                    "type": "synonym"
                },
                {
                    "name": "VhaM8.9",
                    "type": "synonym"
                },
                {
                    "name": "VhaPRR",
                    "type": "synonym"
                },
                {
                    "name": "dPRR",
                    "type": "synonym"
                },
                {
                    "name": "vhaM8.9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHG4-1",
            "evidence": [
                {
                    "id": "0051048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051048"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051048"
}