{
    "disease_id": "DOID:0070263",
    "recommended_name": {
        "id": "DOID:0070263",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070263",
        "name": "congenital disorder of glycosylation type IIk",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "name": "CDG IIk",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "name": "CDG syndrome type IIk",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "name": "CDG2K",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "name": "Congenital disorder of glycosylation type 2k",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIk",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "name": "TMEM165-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "name": "CDGIIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-congenital disorder of glycosylation",
            "description": "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)."
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "CDG syndrome type IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "CDG-IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "CDG2K",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "carbohydrate deficient glycoprotein syndrome type IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "congenital disorder of glycosylation type 2k",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "congenital disorder of glycosylation type IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-CDG (CDG-IIk)",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "congenital disorder of glycosylation, type IIk",
            "description": ""
        },
        {
            "id": "MIM:614727",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614727",
            "name": "Congenital disorder of glycosylation 2K",
            "description": "Congenital disorder of glycosylation 2K"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070263"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070263",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070263",
            "categories": []
        },
        {
            "id": "MONDO:0013870",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "categories": []
        },
        {
            "id": "MIM:614727",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614727",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52875-1",
            "uniprot_ac": "P52875",
            "uniprot_id": "TM165_MOUSE",
            "refseq_ac": "NP_035756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative divalent cation/proton antiporter TMEM165",
                    "type": "recommended"
                },
                {
                    "name": "TPA regulated locus",
                    "type": "synonym"
                },
                {
                    "name": "TPA-regulated locus protein",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 165",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein PFT27",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein TPARL",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165 precursor",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 164",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein PFT27",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein TPARL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem165",
                    "type": "recommended"
                },
                {
                    "name": "Tmem165",
                    "type": "synonym"
                },
                {
                    "name": "Tpardl",
                    "type": "synonym"
                },
                {
                    "name": "Tparl",
                    "type": "synonym"
                },
                {
                    "name": "pFT27",
                    "type": "synonym"
                }
            ],
            "record_id": "P52875-1",
            "evidence": [
                {
                    "id": "0070263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC07-1",
            "uniprot_ac": "Q9HC07",
            "uniprot_id": "TM165_HUMAN",
            "refseq_ac": "NP_060945",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative divalent cation/proton antiporter TMEM165",
                    "type": "recommended"
                },
                {
                    "name": "TPA regulated locus",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 165",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein PT27",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein TPARL",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165 precursor",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein PT27",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein TPARL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM165",
                    "type": "recommended"
                },
                {
                    "name": "CDG2K",
                    "type": "synonym"
                },
                {
                    "name": "FT27",
                    "type": "synonym"
                },
                {
                    "name": "GDT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC64A1",
                    "type": "synonym"
                },
                {
                    "name": "TMEM165",
                    "type": "synonym"
                },
                {
                    "name": "TMPT27",
                    "type": "synonym"
                },
                {
                    "name": "TPARL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HC07-1",
            "evidence": [
                {
                    "id": "0013870",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013870"
                },
                {
                    "id": "614727",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614727"
                },
                {
                    "id": "TMEM165",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/TMEM165/#!details"
                },
                {
                    "id": "0070263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38301-1",
            "uniprot_ac": "P38301",
            "uniprot_id": "GDT1_YEAST",
            "refseq_ac": "NP_009746",
            "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": "Divalent cation/proton antiporter GDT1",
                    "type": "recommended"
                },
                {
                    "name": "GCR1-dependent translation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "putative ribosome biosynthesis protein GDT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDT1",
                    "type": "recommended"
                },
                {
                    "name": "GDT1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1310",
                    "type": "synonym"
                }
            ],
            "record_id": "P38301-1",
            "evidence": [
                {
                    "id": "0070263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V899-1",
            "uniprot_ac": "Q4V899",
            "uniprot_id": "TM165_RAT",
            "refseq_ac": "NP_001019973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative divalent cation/proton antiporter TMEM165",
                    "type": "recommended"
                },
                {
                    "name": "TPA regulated locus",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 165",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein TPARL",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165 precursor",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein TPARL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem165",
                    "type": "recommended"
                },
                {
                    "name": "Tmem165",
                    "type": "synonym"
                },
                {
                    "name": "Tparl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V899-1",
            "evidence": [
                {
                    "id": "0070263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIL1-1",
            "uniprot_ac": "E1JIL1",
            "uniprot_id": "E1JIL1_DROME",
            "refseq_ac": "NP_001163614",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDT1 family protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42542-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG31303",
                    "type": "recommended"
                },
                {
                    "name": "CG4196",
                    "type": "recommended"
                },
                {
                    "name": "CG31303",
                    "type": "synonym"
                },
                {
                    "name": "CG4196",
                    "type": "synonym"
                },
                {
                    "name": "CG42542",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42542",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42542",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIL1-1",
            "evidence": [
                {
                    "id": "0070263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070263"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070263"
}