{
    "disease_id": "DOID:0080070",
    "recommended_name": {
        "id": "DOID:0080070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080070",
        "name": "mucolipidosis II alpha/beta",
        "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
    },
    "synonyms": [
        {
            "id": "DOID:0080070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080070",
            "name": "I-cell disease",
            "description": ""
        },
        {
            "id": "DOID:0080070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080070",
            "name": "mucolipidosis II",
            "description": ""
        },
        {
            "id": "DOID:0080070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080070",
            "name": "inclusion-cell disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "mucolipidosis type II",
            "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "I Cell Disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "I-cell disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "mucolipidosis type II",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "mucolipidosis type II alpha/beta",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "GNPTA",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "I cell disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "Leroy disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "ML 2",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "ML disorder type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "N-acetylglucosamine 1phosphotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "inclusion cell disease",
            "description": ""
        },
        {
            "id": "MIM:252500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252500",
            "name": "Mucolipidosis type II",
            "description": "Mucolipidosis type II"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080070"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080070",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080070",
            "categories": []
        },
        {
            "id": "MONDO:0009650",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "categories": []
        },
        {
            "id": "MIM:252500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3T906-1",
            "uniprot_ac": "Q3T906",
            "uniprot_id": "GNPTA_HUMAN",
            "refseq_ac": "NP_077288",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "GNPTAB",
                    "type": "recommended"
                },
                {
                    "name": "GNPTAB",
                    "type": "synonym"
                },
                {
                    "name": "GNPTA",
                    "type": "synonym"
                },
                {
                    "name": "ICD",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1208",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3T906-1",
            "evidence": [
                {
                    "id": "79158",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                },
                {
                    "id": "0009650",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009650"
                },
                {
                    "id": "252500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252500"
                },
                {
                    "id": "0080070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RGJ8-1",
            "uniprot_ac": "Q5RGJ8",
            "uniprot_id": "GNPTA_DANRE",
            "refseq_ac": "NP_001038233",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "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",
                    "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",
            "evidence": [
                {
                    "id": "0080070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0080070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnptab",
                    "type": "recommended"
                },
                {
                    "name": "Gnptab",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564821",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZKE0-1",
            "evidence": [
                {
                    "id": "0080070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "Gnptab-PA",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnptab",
                    "type": "recommended"
                },
                {
                    "name": "CG8027",
                    "type": "synonym"
                },
                {
                    "name": "Cg8027",
                    "type": "synonym"
                },
                {
                    "name": "DmGNPTAB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8027",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8027",
                    "type": "synonym"
                },
                {
                    "name": "GNPTAB",
                    "type": "synonym"
                },
                {
                    "name": "Gnptab",
                    "type": "synonym"
                },
                {
                    "name": "Gntap",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7S7-1",
            "evidence": [
                {
                    "id": "0080070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080070"
}