{
    "disease_id": "DOID:0060805",
    "recommended_name": {
        "id": "DOID:0060805",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060805",
        "name": "Prieto syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0060805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060805",
            "name": "Prieto-Badia-Mulas syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060805",
            "name": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "Prieto syndrome",
            "description": "This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth."
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "Prieto syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "Prieto-Badia-Mulas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "MRXS2",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "PRS",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "Prieto X-linked intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "Prieto X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "mental retardation, X-linked, syndromic 2",
            "description": ""
        },
        {
            "id": "MONDO:0010667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "name": "mental retardation, X-linked, with Dysmorphism and cerebral atrophy",
            "description": ""
        },
        {
            "id": "MIM:309610",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309610",
            "name": "Prieto syndrome",
            "description": "Prieto syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060805"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060805",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060805",
            "categories": []
        },
        {
            "id": "MONDO:0010667",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010667",
            "categories": []
        },
        {
            "id": "MIM:309610",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309610",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PTI7-1",
            "uniprot_ac": "A0A8M9PTI7",
            "uniprot_id": "A0A8M9PTI7_DANRE",
            "refseq_ac": "XP_021325641",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase WNK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 3",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein wnk3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wnk3",
                    "type": "recommended"
                },
                {
                    "name": "wnk3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PTI7-1",
            "evidence": [
                {
                    "id": "0060805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80XP9-1",
            "uniprot_ac": "Q80XP9",
            "uniprot_id": "WNK3_MOUSE",
            "refseq_ac": "NP_001258607",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase WNK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 3",
                    "type": "synonym"
                },
                {
                    "name": "WNK lysine deficient protein kinase 3, pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase lysine-deficient 3",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase with no lysine 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnk3",
                    "type": "recommended"
                },
                {
                    "name": "Prkwnk3",
                    "type": "synonym"
                },
                {
                    "name": "Wnk3-ps",
                    "type": "synonym"
                },
                {
                    "name": "Wnk3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80XP9-1",
            "evidence": [
                {
                    "id": "0060805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYP7-1",
            "uniprot_ac": "Q9BYP7",
            "uniprot_id": "WNK3_HUMAN",
            "refseq_ac": "NP_001002838",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase WNK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Prieto X-linked mental retardation syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 3",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase with no lysine 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNK3",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1566",
                    "type": "synonym"
                },
                {
                    "name": "MRXS2",
                    "type": "synonym"
                },
                {
                    "name": "PRKWNK3",
                    "type": "synonym"
                },
                {
                    "name": "PRS",
                    "type": "synonym"
                },
                {
                    "name": "WNK3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYP7-1",
            "evidence": [
                {
                    "id": "309610",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309610"
                },
                {
                    "id": "0060805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1W2Q671-1",
            "uniprot_ac": "A0A1W2Q671",
            "uniprot_id": "A0A1W2Q671_RAT",
            "refseq_ac": "NP_001398747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase WNK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnk3",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563131",
                    "type": "synonym"
                },
                {
                    "name": "Wnk3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1W2Q671-1",
            "evidence": [
                {
                    "id": "0060805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060805"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060805"
}