{
    "disease_id": "DOID:0111244",
    "recommended_name": {
        "id": "DOID:0111244",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111244",
        "name": "palmoplantar keratoderma and congenital alopecia 1",
        "description": "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "PPK-CA, Stevanovic type",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "PPKCA Stevanovic type",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "PPKCA1",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "palmoplantar keratoderma and congenital alopecia, Stevanovic type",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "keratoderma-hypotrichosis-leukonychia totalis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia",
            "description": "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications."
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "PPK-CA, Stevanovic type",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma and congenital alopecia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma and congenital alopecia, Stevanovic type",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma with congenital alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "PPKCA1",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "alopecia congenita with hyperkeratosis of the palms and soles",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma and congenital alopecia 1",
            "description": ""
        },
        {
            "id": "MIM:104100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/104100",
            "name": "Palmoplantar keratoderma and congenital alopecia 1",
            "description": "Palmoplantar keratoderma and congenital alopecia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111244"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111244",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "categories": []
        },
        {
            "id": "MONDO:0007083",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "categories": []
        },
        {
            "id": "MIM:104100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/104100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FBZ4-1",
            "uniprot_ac": "E7FBZ4",
            "uniprot_id": "E7FBZ4_DANRE",
            "refseq_ac": "XP_693998",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction protein",
                    "type": "recommended"
                },
                {
                    "name": "gap junction alpha-1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gja1a",
                    "type": "recommended"
                },
                {
                    "name": "gja1a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FBZ4-1",
            "evidence": [
                {
                    "id": "0111244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O57474-1",
            "uniprot_ac": "O57474",
            "uniprot_id": "CXA1_DANRE",
            "refseq_ac": "NP_571113",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-1 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-43",
                    "type": "synonym"
                },
                {
                    "name": "Cx43",
                    "type": "synonym"
                },
                {
                    "name": "Short fin protein",
                    "type": "synonym"
                },
                {
                    "name": "connexin 43",
                    "type": "synonym"
                },
                {
                    "name": "etID309742.9",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "shf",
                    "type": "synonym"
                },
                {
                    "name": "short fin protein",
                    "type": "synonym"
                },
                {
                    "name": "sof",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gja1",
                    "type": "recommended"
                },
                {
                    "name": "cx43a1",
                    "type": "synonym"
                },
                {
                    "name": "cx43",
                    "type": "synonym"
                },
                {
                    "name": "gja1b",
                    "type": "synonym"
                },
                {
                    "name": "gja1",
                    "type": "synonym"
                },
                {
                    "name": "shf",
                    "type": "synonym"
                },
                {
                    "name": "sof",
                    "type": "synonym"
                },
                {
                    "name": "stopsel",
                    "type": "synonym"
                },
                {
                    "name": "stp",
                    "type": "synonym"
                },
                {
                    "name": "zfCx43.3",
                    "type": "synonym"
                }
            ],
            "record_id": "O57474-1",
            "evidence": [
                {
                    "id": "0111244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23242-1",
            "uniprot_ac": "P23242",
            "uniprot_id": "CXA1_MOUSE",
            "refseq_ac": "NP_034418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-1 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-43",
                    "type": "synonym"
                },
                {
                    "name": "Cx43",
                    "type": "synonym"
                },
                {
                    "name": "Gap junction 43 kDa heart protein",
                    "type": "synonym"
                },
                {
                    "name": "alpha 1 connexin",
                    "type": "synonym"
                },
                {
                    "name": "connexin k1",
                    "type": "synonym"
                },
                {
                    "name": "connexin-43",
                    "type": "synonym"
                },
                {
                    "name": "gap junction 43 kDa heart protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja1",
                    "type": "recommended"
                },
                {
                    "name": "Cnx43",
                    "type": "synonym"
                },
                {
                    "name": "Cx43alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Cx43",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-43",
                    "type": "synonym"
                },
                {
                    "name": "Cxnk1",
                    "type": "synonym"
                },
                {
                    "name": "Gja-1",
                    "type": "synonym"
                },
                {
                    "name": "Gja1",
                    "type": "synonym"
                },
                {
                    "name": "Npm1",
                    "type": "synonym"
                },
                {
                    "name": "connexin43",
                    "type": "synonym"
                }
            ],
            "record_id": "P23242-1",
            "evidence": [
                {
                    "id": "0111244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17302-1",
            "uniprot_ac": "P17302",
            "uniprot_id": "CXA1_HUMAN",
            "refseq_ac": "NP_000156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-1 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-43",
                    "type": "synonym"
                },
                {
                    "name": "Cx43",
                    "type": "synonym"
                },
                {
                    "name": "Gap junction 43 kDa heart protein",
                    "type": "synonym"
                },
                {
                    "name": "connexin-43",
                    "type": "synonym"
                },
                {
                    "name": "gap junction 43 kDa heart protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, alpha 1, 43kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJA1",
                    "type": "recommended"
                },
                {
                    "name": "AVSD3",
                    "type": "synonym"
                },
                {
                    "name": "CMDR",
                    "type": "synonym"
                },
                {
                    "name": "CX43",
                    "type": "synonym"
                },
                {
                    "name": "EKVP3",
                    "type": "synonym"
                },
                {
                    "name": "EKVP",
                    "type": "synonym"
                },
                {
                    "name": "GJA1",
                    "type": "synonym"
                },
                {
                    "name": "GJAL",
                    "type": "synonym"
                },
                {
                    "name": "HLHS1",
                    "type": "synonym"
                },
                {
                    "name": "HSS",
                    "type": "synonym"
                },
                {
                    "name": "ODDD",
                    "type": "synonym"
                },
                {
                    "name": "PPKCA",
                    "type": "synonym"
                }
            ],
            "record_id": "P17302-1",
            "evidence": [
                {
                    "id": "104100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/104100"
                },
                {
                    "id": "0111244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08050-1",
            "uniprot_ac": "P08050",
            "uniprot_id": "CXA1_RAT",
            "refseq_ac": "NP_036699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-1 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-43",
                    "type": "synonym"
                },
                {
                    "name": "Cx43",
                    "type": "synonym"
                },
                {
                    "name": "Gap junction 43 kDa heart protein",
                    "type": "synonym"
                },
                {
                    "name": "connexin 43",
                    "type": "synonym"
                },
                {
                    "name": "connexin k1",
                    "type": "synonym"
                },
                {
                    "name": "gap junction 43 kDa heart protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja1",
                    "type": "recommended"
                },
                {
                    "name": "Cx43",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-43",
                    "type": "synonym"
                },
                {
                    "name": "Cxnk1",
                    "type": "synonym"
                },
                {
                    "name": "Gja1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08050-1",
            "evidence": [
                {
                    "id": "0111244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111244"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07108-1",
            "uniprot_ac": "P07108",
            "uniprot_id": "ACBP_HUMAN",
            "refseq_ac": "NP_001073331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-CoA-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "ACBP",
                    "type": "synonym"
                },
                {
                    "name": "DBI",
                    "type": "synonym"
                },
                {
                    "name": "Diazepam-binding inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "EP",
                    "type": "synonym"
                },
                {
                    "name": "Endozepine",
                    "type": "synonym"
                },
                {
                    "name": "acyl coenzyme A binding protein",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA-binding protein isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A binding domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "cholecystokinin-releasing peptide, trypsin-sensitive",
                    "type": "synonym"
                },
                {
                    "name": "diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)",
                    "type": "synonym"
                },
                {
                    "name": "diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)",
                    "type": "synonym"
                },
                {
                    "name": "diazepam-binding inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "endozepine",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DBI",
                    "type": "recommended"
                },
                {
                    "name": "ACBD1",
                    "type": "synonym"
                },
                {
                    "name": "ACBP",
                    "type": "synonym"
                },
                {
                    "name": "CCK-RP",
                    "type": "synonym"
                },
                {
                    "name": "DBI",
                    "type": "synonym"
                },
                {
                    "name": "EP",
                    "type": "synonym"
                }
            ],
            "record_id": "P07108-1",
            "evidence": [
                {
                    "id": "0111244",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111244"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111244"
}