{
    "disease_id": "DOID:0070709",
    "recommended_name": {
        "id": "DOID:0070709",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070709",
        "name": "Popov-Chang syndrome",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that has_material_basis_in heterozygous mutation in the YWHAZ gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0979865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979865",
            "name": "Popov-Chang syndrome",
            "description": ""
        },
        {
            "id": "MIM:618428",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618428",
            "name": "Popov-Chang syndrome",
            "description": "Popov-Chang syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070709"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070709",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070709",
            "categories": []
        },
        {
            "id": "MONDO:0979865",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979865",
            "categories": []
        },
        {
            "id": "MIM:618428",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618428",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63104-1",
            "uniprot_ac": "P63104",
            "uniprot_id": "1433Z_HUMAN",
            "refseq_ac": "NP_001129171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein zeta/delta",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 delta",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 protein zeta/delta",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 protein/cytosolic phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 zeta",
                    "type": "synonym"
                },
                {
                    "name": "KCIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C inhibitor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 3",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 93",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C inhibitor protein-1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3/tryptophan 5 -monooxygenase activation protein, zeta polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YWHAZ",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3-zeta",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-3",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-93",
                    "type": "synonym"
                },
                {
                    "name": "HEL4",
                    "type": "synonym"
                },
                {
                    "name": "KCIP-1",
                    "type": "synonym"
                },
                {
                    "name": "POPCHAS",
                    "type": "synonym"
                },
                {
                    "name": "YWHAD",
                    "type": "synonym"
                },
                {
                    "name": "YWHAZ",
                    "type": "synonym"
                }
            ],
            "record_id": "P63104-1",
            "evidence": [
                {
                    "id": "618428",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618428"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070709"
}