{
    "disease_id": "DOID:0080488",
    "recommended_name": {
        "id": "DOID:0080488",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080488",
        "name": "mucolipidosis",
        "description": "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids."
    },
    "synonyms": [
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "sialidosis type 2",
            "description": "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations."
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "sialidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "NEU1 sialidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "dysmorphic sialidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "dysmorphic sialidosis with renal involvement",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "infantile dysmorphic sialidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "mucolipidosis I",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "nephrosialidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "sialidosis caused by mutation in NEU1",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "sialidosis type II",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "sialidosis, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "sialidosis, type I",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "ML1",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "NEU 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "mucolipidosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "name": "sialidosis, type II",
            "description": ""
        },
        {
            "id": "MIM:256550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256550",
            "name": "Sialidosis",
            "description": "Sialidosis"
        }
    ],
    "children": [
        {
            "id": "DOID:0080070",
            "label": "mucolipidosis II alpha/beta",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080071",
            "label": "mucolipidosis III alpha/beta",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080490",
            "label": "mucolipidosis type IV",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080678",
            "label": "mucolipidosis III gamma",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:3343",
            "label": "glycoproteinosis",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080071",
        "DOID:0080490",
        "DOID:0080070",
        "DOID:0080678",
        "DOID:3343",
        "DOID:0080488"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080488",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080488",
            "categories": []
        },
        {
            "id": "MONDO:0009738",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009738",
            "categories": []
        },
        {
            "id": "MIM:256550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5TZA3-1",
            "uniprot_ac": "Q5TZA3",
            "uniprot_id": "LYSET_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Lysosomal enzyme trafficking factor",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 251",
                    "type": "synonym"
                },
                {
                    "name": "UPF0694 transmembrane protein C14orf109 homolog",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal enzyme trafficking factor",
                    "type": "synonym"
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                {
                    "name": "transmembrane protein 251",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "tmem251",
                    "type": "recommended"
                },
                {
                    "name": "C14orf109",
                    "type": "synonym"
                },
                {
                    "name": "gcaf",
                    "type": "synonym"
                },
                {
                    "name": "lyset",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-55f12.4",
                    "type": "synonym"
                },
                {
                    "name": "tmem251",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112233",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TZA3-1",
            "evidence": [
                {
                    "id": "0080488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RGJ8-1",
            "uniprot_ac": "Q5RGJ8",
            "uniprot_id": "GNPTA_DANRE",
            "refseq_ac": "NP_001038233",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.17",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "Stealth protein gnptab",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "stealth protein gnptab",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnptab",
                    "type": "recommended"
                },
                {
                    "name": "gnptab",
                    "type": "synonym"
                },
                {
                    "name": "gnpta",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-234f20.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd55d09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:122985",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158502",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGJ8-1",
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                {
                    "id": "0080488",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35657-1",
            "uniprot_ac": "O35657",
            "uniprot_id": "NEUR1_MOUSE",
            "refseq_ac": "NP_035023",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sialidase-1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.18",
                    "type": "synonym"
                },
                {
                    "name": "G9 sialidase",
                    "type": "synonym"
                },
                {
                    "name": "HLA-B-associated transcript 7",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal sialidase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyl-alpha-neuraminidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuraminidase 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal sialidase",
                    "type": "synonym"
                },
                {
                    "name": "sialidase-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sialidase-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neu1",
                    "type": "recommended"
                },
                {
                    "name": "Aglp",
                    "type": "synonym"
                },
                {
                    "name": "Apl",
                    "type": "synonym"
                },
                {
                    "name": "Bat-7",
                    "type": "synonym"
                },
                {
                    "name": "Bat7",
                    "type": "synonym"
                },
                {
                    "name": "G9",
                    "type": "synonym"
                },
                {
                    "name": "Map-2",
                    "type": "synonym"
                },
                {
                    "name": "Neu-1",
                    "type": "synonym"
                },
                {
                    "name": "Neu1",
                    "type": "synonym"
                },
                {
                    "name": "Neu",
                    "type": "synonym"
                }
            ],
            "record_id": "O35657-1",
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                {
                    "id": "0080488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q69ZN6-1",
            "uniprot_ac": "Q69ZN6",
            "uniprot_id": "GNPTA_MOUSE",
            "refseq_ac": "NP_001004164",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.17",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "Stealth protein GNPTAB",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "stealth protein GNPTAB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnptab",
                    "type": "recommended"
                },
                {
                    "name": "EG432486",
                    "type": "synonym"
                },
                {
                    "name": "Gnptab",
                    "type": "synonym"
                },
                {
                    "name": "Gnpta",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1208",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69ZN6-1",
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                {
                    "id": "0080488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH26-1",
            "uniprot_ac": "Q8BH26",
            "uniprot_id": "LYSET_MOUSE",
            "refseq_ac": "NP_796114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal enzyme trafficking factor",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 251",
                    "type": "synonym"
                },
                {
                    "name": "UPF0694 transmembrane protein C14orf109 homolog",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal enzyme trafficking factor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 251",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Lyset",
                    "type": "recommended"
                },
                {
                    "name": "C14orf109",
                    "type": "synonym"
                },
                {
                    "name": "D230037D09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lyset",
                    "type": "synonym"
                },
                {
                    "name": "Tmem251",
                    "type": "synonym"
                }
            ],
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                    "id": "0080488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99519-1",
            "uniprot_ac": "Q99519",
            "uniprot_id": "NEUR1_HUMAN",
            "refseq_ac": "NP_000425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sialidase-1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.18",
                    "type": "synonym"
                },
                {
                    "name": "Acetylneuraminyl hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "G9 sialidase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal neuraminidase",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal sialidase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyl-alpha-neuraminidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuraminidase-1",
                    "type": "synonym"
                },
                {
                    "name": "acetylneuraminyl hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "exo-alpha-sialidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal sialidase",
                    "type": "synonym"
                },
                {
                    "name": "sialidase 1 (lysosomal sialidase)",
                    "type": "synonym"
                },
                {
                    "name": "sialidase-1 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "NEU1",
                    "type": "recommended"
                },
                {
                    "name": "NANH",
                    "type": "synonym"
                },
                {
                    "name": "NEU1",
                    "type": "synonym"
                },
                {
                    "name": "NEU",
                    "type": "synonym"
                },
                {
                    "name": "SIAL1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "256550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256550"
                },
                {
                    "id": "0080488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q99PW3-1",
            "uniprot_ac": "Q99PW3",
            "uniprot_id": "NEUR1_RAT",
            "refseq_ac": "",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Sialidase-1",
                    "type": "recommended"
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                {
                    "name": "3.2.1.18",
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                },
                {
                    "name": "Lysosomal sialidase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyl-alpha-neuraminidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuraminidase 1",
                    "type": "synonym"
                }
            ],
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                    "id": "0080488",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
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            "uniprot_ac": "F1LXS7",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Lysosomal enzyme trafficking factor",
                    "type": "recommended"
                },
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                    "name": "Transmembrane protein 251",
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                {
                    "name": "lysosomal enzyme trafficking factor isoform 1",
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                    "name": "transmembrane protein 251",
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                }
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                    "name": "Lyset",
                    "type": "recommended"
                },
                {
                    "name": "Lyset",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566396",
                    "type": "synonym"
                },
                {
                    "name": "Tmem251",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZKE0-1",
            "uniprot_ac": "D3ZKE0",
            "uniprot_id": "D3ZKE0_RAT",
            "refseq_ac": "NP_001414087",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.17",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "Stealth protein GNPTAB",
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                },
                {
                    "name": "UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Gnptab",
                    "type": "recommended"
                },
                {
                    "name": "Gnptab",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564821",
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                }
            ],
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                {
                    "id": "0080488",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7S7-1",
            "uniprot_ac": "A1Z7S7",
            "uniprot_id": "A1Z7S7_DROME",
            "refseq_ac": "NP_610469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.-.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.8.17",
                    "type": "synonym"
                },
                {
                    "name": "CG8027-PA",
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                },
                {
                    "name": "Gnptab-PA",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
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                }
            ],
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                    "name": "Gnptab",
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                },
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                    "name": "CG8027",
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                },
                {
                    "name": "Cg8027",
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                },
                {
                    "name": "DmGNPTAB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8027",
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                },
                {
                    "name": "Dmel_CG8027",
                    "type": "synonym"
                },
                {
                    "name": "GNPTAB",
                    "type": "synonym"
                },
                {
                    "name": "Gnptab",
                    "type": "synonym"
                },
                {
                    "name": "Gntap",
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                }
            ],
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                    "id": "0080488",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3T906-1",
            "uniprot_ac": "Q3T906",
            "uniprot_id": "GNPTA_HUMAN",
            "refseq_ac": "NP_077288",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.17",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase alpha and beta subunits",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "Stealth protein GNPTAB",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "stealth protein GNPTAB",
                    "type": "synonym"
                }
            ],
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                    "name": "GNPTAB",
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                },
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                    "name": "GNPTAB",
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                },
                {
                    "name": "GNPTA",
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                },
                {
                    "name": "ICD",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1208",
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                }
            ],
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                    "id": "0080488",
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                }
            ]
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            "uniprot_canonical_ac": "Q8N6I4-1",
            "uniprot_ac": "Q8N6I4",
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            "refseq_ac": "NP_056491",
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                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Lysosomal enzyme trafficking factor",
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                },
                {
                    "name": "GCAF",
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                },
                {
                    "name": "GNPTAB cleavage and activity factor",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 251",
                    "type": "synonym"
                },
                {
                    "name": "UPF0694 transmembrane protein C14orf109",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal enzyme trafficking factor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 251",
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                }
            ],
            "gene_names": [
                {
                    "name": "LYSET",
                    "type": "recommended"
                },
                {
                    "name": "C14orf109",
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                },
                {
                    "name": "DMAN",
                    "type": "synonym"
                },
                {
                    "name": "GCAF",
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                },
                {
                    "name": "LYSET",
                    "type": "synonym"
                },
                {
                    "name": "TMEM251",
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                }
            ],
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                {
                    "id": "0080488",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080488"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080488"
}