{
    "disease_id": "DOID:0070155",
    "recommended_name": {
        "id": "DOID:0070155",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070155",
        "name": "hereditary sensory and autonomic neuropathy type 2A",
        "description": "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070155",
            "name": "HSAN2A",
            "description": ""
        },
        {
            "id": "DOID:0070155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070155",
            "name": "hereditary sensory and autonomic neuropathy type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "neuropathy, hereditary sensory and autonomic, type 2A",
            "description": "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13"
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "HSAN 2A",
            "description": ""
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "HSAN2A",
            "description": ""
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "HSN 2A",
            "description": ""
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "neuropathy, hereditary sensory and autonomic, type II",
            "description": ""
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "neuropathy, hereditary sensory and autonomic, type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "neuropathy, hereditary sensory, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0024309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "name": "Morvan disease",
            "description": ""
        },
        {
            "id": "MIM:201300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201300",
            "name": "Neuropathy, hereditary sensory and autonomic, 2A",
            "description": "Neuropathy, hereditary sensory and autonomic, 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070155"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070155",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070155",
            "categories": []
        },
        {
            "id": "MONDO:0024309",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024309",
            "categories": []
        },
        {
            "id": "MIM:201300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/201300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PXY8-1",
            "uniprot_ac": "A0A8M9PXY8",
            "uniprot_id": "A0A8M9PXY8_DANRE",
            "refseq_ac": "XP_021327176",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wnk1b",
                    "type": "recommended"
                },
                {
                    "name": "wnk1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PXY8-1",
            "evidence": [
                {
                    "id": "0070155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83741-1",
            "uniprot_ac": "P83741",
            "uniprot_id": "WNK1_MOUSE",
            "refseq_ac": "NP_001171949",
            "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 WNK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase lysine-deficient 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Wnk1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnk1",
                    "type": "recommended"
                },
                {
                    "name": "6430573H23Rik",
                    "type": "synonym"
                },
                {
                    "name": "EG406236",
                    "type": "synonym"
                },
                {
                    "name": "Hsn2",
                    "type": "synonym"
                },
                {
                    "name": "Prkwnk1",
                    "type": "synonym"
                },
                {
                    "name": "Wnk1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0344",
                    "type": "synonym"
                }
            ],
            "record_id": "P83741-1",
            "evidence": [
                {
                    "id": "0070155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4A3-1",
            "uniprot_ac": "Q9H4A3",
            "uniprot_id": "WNK1_HUMAN",
            "refseq_ac": "NP_001171914",
            "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 WNK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Kinase deficient protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "hWNK1",
                    "type": "synonym"
                },
                {
                    "name": "p65",
                    "type": "synonym"
                },
                {
                    "name": "prostate-derived sterile 20-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 167",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNK1",
                    "type": "recommended"
                },
                {
                    "name": "HSAN2",
                    "type": "synonym"
                },
                {
                    "name": "HSN2",
                    "type": "synonym"
                },
                {
                    "name": "KDP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0344",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R167",
                    "type": "synonym"
                },
                {
                    "name": "PRKWNK1",
                    "type": "synonym"
                },
                {
                    "name": "PSK",
                    "type": "synonym"
                },
                {
                    "name": "WNK1",
                    "type": "synonym"
                },
                {
                    "name": "p65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4A3-1",
            "evidence": [
                {
                    "id": "201300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/201300"
                },
                {
                    "id": "0070155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIH7-1",
            "uniprot_ac": "Q9JIH7",
            "uniprot_id": "WNK1_RAT",
            "refseq_ac": "NP_001002823",
            "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 WNK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase lysine-deficient 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase with no lysine 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase WNK1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnk1",
                    "type": "recommended"
                },
                {
                    "name": "Hsn2",
                    "type": "synonym"
                },
                {
                    "name": "Prkwnk1",
                    "type": "synonym"
                },
                {
                    "name": "Wnk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIH7-1",
            "evidence": [
                {
                    "id": "0070155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PGC5-1",
            "uniprot_ac": "M9PGC5",
            "uniprot_id": "WNK_DROME",
            "refseq_ac": "NP_001262172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Wnk",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG7177-PN",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase with no lysine",
                    "type": "synonym"
                },
                {
                    "name": "WNK homolog",
                    "type": "synonym"
                },
                {
                    "name": "WNK kinase",
                    "type": "synonym"
                },
                {
                    "name": "Wnk kinase, isoform N",
                    "type": "synonym"
                },
                {
                    "name": "Wnk-PN",
                    "type": "synonym"
                },
                {
                    "name": "with No lysine kinase",
                    "type": "synonym"
                },
                {
                    "name": "with-no-lysine kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnk",
                    "type": "recommended"
                },
                {
                    "name": "CG7177",
                    "type": "synonym"
                },
                {
                    "name": "DWNK",
                    "type": "synonym"
                },
                {
                    "name": "DmWNK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7177",
                    "type": "synonym"
                },
                {
                    "name": "WNK",
                    "type": "synonym"
                },
                {
                    "name": "Wnk",
                    "type": "synonym"
                },
                {
                    "name": "cg7177",
                    "type": "synonym"
                },
                {
                    "name": "dWNK",
                    "type": "synonym"
                },
                {
                    "name": "dWnk",
                    "type": "synonym"
                },
                {
                    "name": "wnk",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PGC5-1",
            "evidence": [
                {
                    "id": "0070155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070155"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070155"
}