{
    "disease_id": "DOID:0080071",
    "recommended_name": {
        "id": "DOID:0080071",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080071",
        "name": "mucolipidosis III alpha/beta",
        "description": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."
    },
    "synonyms": [
        {
            "id": "DOID:0080071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080071",
            "name": "mucolipidosis III",
            "description": ""
        },
        {
            "id": "DOID:0080071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080071",
            "name": "pseudo-Hurler polydystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "mucolipidosis type III, alpha/beta",
            "description": "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients."
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "ML 3",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "ML3",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "mucolipidosis 3",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "mucolipidosis III",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "ML 3 alpha/beta",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "ML III alpha/beta",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "MLIII",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "Pseudo Hurler Polydystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "mucolipidosis type 3 alpha/beta",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "mucolipidosis type III",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "pseudo-Hurler polydystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "ML 3 A",
            "description": ""
        },
        {
            "id": "MONDO:0018931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "name": "mucolipidosis type 3A",
            "description": ""
        },
        {
            "id": "MIM:252600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252600",
            "name": "Mucolipidosis type III complementation group A",
            "description": "Mucolipidosis type III complementation group A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080071"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080071",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080071",
            "categories": []
        },
        {
            "id": "MONDO:0018931",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018931",
            "categories": []
        },
        {
            "id": "MIM:252600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252600",
            "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": "0018931",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0018931"
                },
                {
                    "id": "252600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252600"
                },
                {
                    "id": "0080071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                }
            ]
        },
        {
            "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": "0080071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                }
            ]
        },
        {
            "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": "0080071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                }
            ]
        },
        {
            "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": "0080071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                }
            ]
        },
        {
            "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": "0080071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080071"
}