{
    "disease_id": "DOID:0070554",
    "recommended_name": {
        "id": "DOID:0070554",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070554",
        "name": "palmoplantar keratoderma and woolly hair",
        "description": "A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070554",
            "name": "PPKWH",
            "description": ""
        },
        {
            "id": "DOID:0070554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070554",
            "name": "keratoderma with woolly hair type IV",
            "description": ""
        },
        {
            "id": "DOID:0070554",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070554",
            "name": "woolly hair-palmoplantar keratoderma syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "wooly hair-palmoplantar keratoderma syndrome",
            "description": "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent."
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "KWWH type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "keratoderma with woolly hair type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "keratoderma with wooly hair type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "woolly hair-palmoplantar hyperkeratosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "wooly hair-palmoplantar hyperkeratosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "PPKWH",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "palmoplantar keratoderma and woolly hair",
            "description": ""
        },
        {
            "id": "MONDO:0014492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "name": "palmoplantar keratoderma and wooly hair",
            "description": ""
        },
        {
            "id": "MIM:616099",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616099",
            "name": "Palmoplantar keratoderma and woolly hair",
            "description": "Palmoplantar keratoderma and woolly hair"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070554"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070554",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070554",
            "categories": []
        },
        {
            "id": "MONDO:0014492",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014492",
            "categories": []
        },
        {
            "id": "MIM:616099",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616099",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WE18-1",
            "uniprot_ac": "X1WE18",
            "uniprot_id": "KANK2_DANRE",
            "refseq_ac": "NP_001292549",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kank2",
                    "type": "recommended"
                },
                {
                    "name": "dZ118J2.12",
                    "type": "synonym"
                },
                {
                    "name": "kank2",
                    "type": "synonym"
                },
                {
                    "name": "si:busm1-118j2.12",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-108m21.1",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WE18-1",
            "evidence": [
                {
                    "id": "0070554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BX02-1",
            "uniprot_ac": "Q8BX02",
            "uniprot_id": "KANK2_MOUSE",
            "refseq_ac": "NP_663586",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain 25",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank2",
                    "type": "recommended"
                },
                {
                    "name": "Ankrd25",
                    "type": "synonym"
                },
                {
                    "name": "Kank2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BX02-1",
            "evidence": [
                {
                    "id": "0070554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63ZY3-1",
            "uniprot_ac": "Q63ZY3",
            "uniprot_id": "KANK2_HUMAN",
            "refseq_ac": "NP_001129663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Matrix-remodeling-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SIP",
                    "type": "synonym"
                },
                {
                    "name": "SRC-1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "SRC-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "SRC1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                },
                {
                    "name": "kidney ankyrin repeat-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "matrix-remodeling-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "steroid receptor coactivator interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KANK2",
                    "type": "recommended"
                },
                {
                    "name": "ANKRD25",
                    "type": "synonym"
                },
                {
                    "name": "KANK2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1518",
                    "type": "synonym"
                },
                {
                    "name": "MXRA3",
                    "type": "synonym"
                },
                {
                    "name": "NPHS16",
                    "type": "synonym"
                },
                {
                    "name": "PPKWH",
                    "type": "synonym"
                },
                {
                    "name": "SIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63ZY3-1",
            "evidence": [
                {
                    "id": "616099",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616099"
                },
                {
                    "id": "0070554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZD05-1",
            "uniprot_ac": "D3ZD05",
            "uniprot_id": "KANK2_RAT",
            "refseq_ac": "XP_006242651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank2",
                    "type": "recommended"
                },
                {
                    "name": "Kank2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563532",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZD05-1",
            "evidence": [
                {
                    "id": "0070554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070554"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYE0-1",
            "uniprot_ac": "A8DYE0",
            "uniprot_id": "A8DYE0_DROME",
            "refseq_ac": "NP_001097318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10249-PD",
                    "type": "synonym"
                },
                {
                    "name": "Kank, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Kank-PD",
                    "type": "synonym"
                },
                {
                    "name": "kank, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH19041",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH03482",
                    "type": "synonym"
                },
                {
                    "name": "CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Kank",
                    "type": "synonym"
                },
                {
                    "name": "dKank",
                    "type": "synonym"
                },
                {
                    "name": "kank",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYE0-1",
            "evidence": [
                {
                    "id": "0070554",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070554"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070554"
}