{
    "disease_id": "DOID:0070745",
    "recommended_name": {
        "id": "DOID:0070745",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070745",
        "name": "early-onset progressive encephalopathy with brain atrophy and spasticity",
        "description": "An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25."
    },
    "synonyms": [
        {
            "id": "DOID:0070745",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070745",
            "name": "PEBAS",
            "description": ""
        },
        {
            "id": "MONDO:0044696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044696",
            "name": "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044696",
            "name": "PEBAS",
            "description": ""
        },
        {
            "id": "MIM:617669",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617669",
            "name": "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity",
            "description": "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070745"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070745",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070745",
            "categories": []
        },
        {
            "id": "MONDO:0044696",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044696",
            "categories": []
        },
        {
            "id": "MIM:617669",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617669",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8WVT3-1",
            "uniprot_ac": "Q8WVT3",
            "uniprot_id": "TPC12_HUMAN",
            "refseq_ac": "NP_001308031",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 12",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 15",
                    "type": "synonym"
                },
                {
                    "name": "TTC-15",
                    "type": "synonym"
                },
                {
                    "name": "Tetratricopeptide repeat protein 15",
                    "type": "synonym"
                },
                {
                    "name": "Trafficking of membranes and mitosis",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat domain 15",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 15",
                    "type": "synonym"
                },
                {
                    "name": "trafficking of membranes and mitosis",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 12",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAPPC12",
                    "type": "recommended"
                },
                {
                    "name": "CGI-87",
                    "type": "synonym"
                },
                {
                    "name": "PEBAS",
                    "type": "synonym"
                },
                {
                    "name": "TRAMM",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC12",
                    "type": "synonym"
                },
                {
                    "name": "TTC-15",
                    "type": "synonym"
                },
                {
                    "name": "TTC15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVT3-1",
            "evidence": [
                {
                    "id": "0044696",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0044696"
                },
                {
                    "id": "617669",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617669"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070745"
}