{
    "disease_id": "DOID:0111652",
    "recommended_name": {
        "id": "DOID:0111652",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111652",
        "name": "ectodermal dysplasia 12",
        "description": "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111652",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111652",
            "name": "ECTD12",
            "description": ""
        },
        {
            "id": "DOID:0111652",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111652",
            "name": "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",
            "description": ""
        },
        {
            "id": "MONDO:0015024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015024",
            "name": "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",
            "description": "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene."
        },
        {
            "id": "MONDO:0015024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015024",
            "name": "ECTD12",
            "description": ""
        },
        {
            "id": "MONDO:0015024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015024",
            "name": "KDF1 ectodermal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0015024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015024",
            "name": "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type",
            "description": ""
        },
        {
            "id": "MONDO:0015024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015024",
            "name": "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12",
            "description": ""
        },
        {
            "id": "MONDO:0015024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015024",
            "name": "ectodermal dysplasia syndrome caused by mutation in KDF1",
            "description": ""
        },
        {
            "id": "MIM:617337",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617337",
            "name": "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",
            "description": "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111652"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111652",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111652",
            "categories": []
        },
        {
            "id": "MONDO:0015024",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015024",
            "categories": []
        },
        {
            "id": "MIM:617337",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617337",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2A2-1",
            "uniprot_ac": "E7F2A2",
            "uniprot_id": "E7F2A2_DANRE",
            "refseq_ac": "XP_001338378",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratinocyte differentiation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kdf1a",
                    "type": "recommended"
                },
                {
                    "name": "kdf1a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2A2-1",
            "evidence": [
                {
                    "id": "0111652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7EZS2-1",
            "uniprot_ac": "E7EZS2",
            "uniprot_id": "E7EZS2_DANRE",
            "refseq_ac": "XP_005173833",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratinocyte differentiation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kdf1b",
                    "type": "recommended"
                },
                {
                    "name": "kdf1b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZS2-1",
            "evidence": [
                {
                    "id": "0111652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A9F4-1",
            "uniprot_ac": "A2A9F4",
            "uniprot_id": "KDF1_MOUSE",
            "refseq_ac": "NP_001077385",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratinocyte differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "keratinocyte differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdf1",
                    "type": "recommended"
                },
                {
                    "name": "1810019J16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kdf1",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A9F4-1",
            "evidence": [
                {
                    "id": "0111652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NAX2-1",
            "uniprot_ac": "Q8NAX2",
            "uniprot_id": "KDF1_HUMAN",
            "refseq_ac": "NP_689578",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratinocyte differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "RP11-344H11.3",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KDF1",
                    "type": "recommended"
                },
                {
                    "name": "C1orf172",
                    "type": "synonym"
                },
                {
                    "name": "ECTD12",
                    "type": "synonym"
                },
                {
                    "name": "KDF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NAX2-1",
            "evidence": [
                {
                    "id": "617337",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617337"
                },
                {
                    "id": "0111652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY88-1",
            "uniprot_ac": "Q6AY88",
            "uniprot_id": "KDF1_RAT",
            "refseq_ac": "NP_001004268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratinocyte differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "keratinocyte differentiation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C1orf172 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdf1",
                    "type": "recommended"
                },
                {
                    "name": "Kdf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1303271",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY88-1",
            "evidence": [
                {
                    "id": "0111652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111652"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111652"
}