{
    "disease_id": "DOID:0051053",
    "recommended_name": {
        "id": "DOID:0051053",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051053",
        "name": "congenital disorder of glycosylation type IIz",
        "description": "A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0859357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859357",
            "name": "congenital disorder of glycosylation, type IIz",
            "description": ""
        },
        {
            "id": "MIM:620201",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620201",
            "name": "Congenital disorder of glycosylation 2Z",
            "description": "Congenital disorder of glycosylation 2Z"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051053"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051053",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051053",
            "categories": []
        },
        {
            "id": "MONDO:0859357",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859357",
            "categories": []
        },
        {
            "id": "MIM:620201",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620201",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4ING6-1",
            "uniprot_ac": "A0A0R4ING6",
            "uniprot_id": "A0A0R4ING6_DANRE",
            "refseq_ac": "NP_996973",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guided entry of tail-anchored proteins factor",
                    "type": "recommended"
                },
                {
                    "name": "Calcium signal-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "guided entry of tail-anchored proteins factor CAMLG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "camlg",
                    "type": "recommended"
                },
                {
                    "name": "camlg",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77424",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ING6-1",
            "evidence": [
                {
                    "id": "0051053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49070-1",
            "uniprot_ac": "P49070",
            "uniprot_id": "CAMLG_MOUSE",
            "refseq_ac": "NP_031622",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guided entry of tail-anchored proteins factor CAMLG",
                    "type": "recommended"
                },
                {
                    "name": "Calcium signal-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "calcium signal-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "guided entry of tail-anchored proteins factor CAMLG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camlg",
                    "type": "recommended"
                },
                {
                    "name": "Camlg",
                    "type": "synonym"
                },
                {
                    "name": "Caml",
                    "type": "synonym"
                },
                {
                    "name": "Get2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49070-1",
            "evidence": [
                {
                    "id": "0051053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49069-1",
            "uniprot_ac": "P49069",
            "uniprot_id": "CAMLG_HUMAN",
            "refseq_ac": "NP_001736",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guided entry of tail-anchored proteins factor CAMLG",
                    "type": "recommended"
                },
                {
                    "name": "Calcium signal-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "calcium signal-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "calcium-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "cyclophilin B-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "guided entry of tail-anchored proteins factor CAMLG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAMLG",
                    "type": "recommended"
                },
                {
                    "name": "CAMLG",
                    "type": "synonym"
                },
                {
                    "name": "CAML",
                    "type": "synonym"
                },
                {
                    "name": "CDG2Z",
                    "type": "synonym"
                },
                {
                    "name": "GET2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49069-1",
            "evidence": [
                {
                    "id": "620201",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620201"
                },
                {
                    "id": "0051053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DGG9-1",
            "uniprot_ac": "Q6DGG9",
            "uniprot_id": "CAMLG_RAT",
            "refseq_ac": "NP_001385655",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guided entry of tail-anchored proteins factor CAMLG",
                    "type": "recommended"
                },
                {
                    "name": "Calcium signal-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "calcium signal-modulating cyclophilin ligand",
                    "type": "synonym"
                },
                {
                    "name": "guided entry of tail-anchored proteins factor CAMLG isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "guided entry of tail-anchored proteins factor CAMLG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camlg",
                    "type": "recommended"
                },
                {
                    "name": "Camlg",
                    "type": "synonym"
                },
                {
                    "name": "Caml",
                    "type": "synonym"
                },
                {
                    "name": "Get2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGG9-1",
            "evidence": [
                {
                    "id": "0051053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051053"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051053"
}