{
    "disease_id": "DOID:0070268",
    "recommended_name": {
        "id": "DOID:0070268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070268",
        "name": "congenital disorder of glycosylation type IIp",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDG IIp",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDG syndrome type IIp",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDG2P",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "Congenital disorder of glycosylation type 2p",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "TMEM199-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIp",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDGIIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "TMEM199-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "CDG syndrome type IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "CDG-IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "CDG2P",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "carbohydrate deficient glycoprotein syndrome type IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "congenital disorder of glycosylation type 2p",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "congenital disorder of glycosylation type IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "congenital disorder of glycosylation, type IIp",
            "description": ""
        },
        {
            "id": "MIM:616829",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616829",
            "name": "Congenital disorder of glycosylation 2P",
            "description": "Congenital disorder of glycosylation 2P"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070268"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070268",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "categories": []
        },
        {
            "id": "MONDO:0014790",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "categories": []
        },
        {
            "id": "MIM:616829",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616829",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SYH2-1",
            "uniprot_ac": "Q5SYH2",
            "uniprot_id": "VMA12_MOUSE",
            "refseq_ac": "NP_954669",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA12",
                    "type": "recommended"
                },
                {
                    "name": "RE40914p",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 199",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 199",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly protein VMA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vma12",
                    "type": "recommended"
                },
                {
                    "name": "Tmem199",
                    "type": "synonym"
                },
                {
                    "name": "Vma12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SYH2-1",
            "evidence": [
                {
                    "id": "0070268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N511-1",
            "uniprot_ac": "Q8N511",
            "uniprot_id": "VMA12_HUMAN",
            "refseq_ac": "NP_689677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA12",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 199",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 199",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly protein VMA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA12",
                    "type": "recommended"
                },
                {
                    "name": "C17orf32",
                    "type": "synonym"
                },
                {
                    "name": "CDG2P",
                    "type": "synonym"
                },
                {
                    "name": "TMEM199",
                    "type": "synonym"
                },
                {
                    "name": "VMA12",
                    "type": "synonym"
                },
                {
                    "name": "VPH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N511-1",
            "evidence": [
                {
                    "id": "0014790",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014790"
                },
                {
                    "id": "616829",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616829"
                },
                {
                    "id": "TMEM199",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/TMEM199/#!details"
                },
                {
                    "id": "0070268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32341-1",
            "uniprot_ac": "P32341",
            "uniprot_id": "VPH2_YEAST",
            "refseq_ac": "NP_012803",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly integral membrane protein VPH2",
                    "type": "recommended"
                },
                {
                    "name": "Protein VMA12",
                    "type": "synonym"
                },
                {
                    "name": "Vph2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPH2",
                    "type": "recommended"
                },
                {
                    "name": "CLS10",
                    "type": "synonym"
                },
                {
                    "name": "VMA12",
                    "type": "synonym"
                },
                {
                    "name": "VPH2",
                    "type": "synonym"
                },
                {
                    "name": "YKL520",
                    "type": "synonym"
                }
            ],
            "record_id": "P32341-1",
            "evidence": [
                {
                    "id": "0070268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK13-1",
            "uniprot_ac": "Q5BK13",
            "uniprot_id": "VMA12_RAT",
            "refseq_ac": "NP_001020163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA12",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 199",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 199",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly protein VMA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vma12",
                    "type": "recommended"
                },
                {
                    "name": "Tmem199",
                    "type": "synonym"
                },
                {
                    "name": "Vma12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK13-1",
            "evidence": [
                {
                    "id": "0070268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070268"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070268"
}