{
    "disease_id": "DOID:0080678",
    "recommended_name": {
        "id": "DOID:0080678",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080678",
        "name": "mucolipidosis III gamma",
        "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "GNPTG-mucolipidosis",
            "description": "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency."
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "GNPTG-mucolipidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "ML 3 gamma",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "ML III gamma",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "mucolipidosis type 3 gamma",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "mucolipidosis type III gamma",
            "description": ""
        },
        {
            "id": "MIM:252605",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252605",
            "name": "Mucolipidosis type III complementation group C",
            "description": "Mucolipidosis type III complementation group C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080678"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080678",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080678",
            "categories": []
        },
        {
            "id": "MONDO:0009652",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "categories": []
        },
        {
            "id": "MIM:252605",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252605",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1MZR8-1",
            "uniprot_ac": "A0A8M1MZR8",
            "uniprot_id": "A0A8M1MZR8_DANRE",
            "refseq_ac": "NP_001002057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase, gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunit gamma precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnptg",
                    "type": "recommended"
                },
                {
                    "name": "gnptg",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc79g04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86640",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1MZR8-1",
            "evidence": [
                {
                    "id": "0080678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080678"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6S5C2-1",
            "uniprot_ac": "Q6S5C2",
            "uniprot_id": "GNPTG_MOUSE",
            "refseq_ac": "NP_001333666",
            "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 subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "GlcNAc-1-phosphotransferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "M6PR domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunit gamma isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "T-complex expressed 7",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-1-phosphotransferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "mannose-6-phosphate receptor domain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnptg",
                    "type": "recommended"
                },
                {
                    "name": "6430527N14Rik",
                    "type": "synonym"
                },
                {
                    "name": "A830081F19",
                    "type": "synonym"
                },
                {
                    "name": "Gnptg",
                    "type": "synonym"
                },
                {
                    "name": "Mdcp1",
                    "type": "synonym"
                },
                {
                    "name": "Tce7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6S5C2-1",
            "evidence": [
                {
                    "id": "0080678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080678"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJJ9-1",
            "uniprot_ac": "Q9UJJ9",
            "uniprot_id": "GNPTG_HUMAN",
            "refseq_ac": "NP_115909",
            "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 subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "GlcNAc-1-phosphotransferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphotransferase subunit gamma precursor",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-1-phosphotransferase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNPTG",
                    "type": "recommended"
                },
                {
                    "name": "C16orf27",
                    "type": "synonym"
                },
                {
                    "name": "CAB56184",
                    "type": "synonym"
                },
                {
                    "name": "GNPTAG",
                    "type": "synonym"
                },
                {
                    "name": "GNPTG",
                    "type": "synonym"
                },
                {
                    "name": "LP2537",
                    "type": "synonym"
                },
                {
                    "name": "RJD9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJJ9-1",
            "evidence": [
                {
                    "id": "252605",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252605"
                },
                {
                    "id": "0080678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080678"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080678"
}