{
    "disease_id": "DOID:0111656",
    "recommended_name": {
        "id": "DOID:0111656",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111656",
        "name": "ectodermal dysplasia 9",
        "description": "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111656",
            "name": "ECTD9",
            "description": ""
        },
        {
            "id": "DOID:0111656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111656",
            "name": "ectodermal dysplasia 9, hair/nail type",
            "description": ""
        },
        {
            "id": "MONDO:0013976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013976",
            "name": "ectodermal dysplasia 9, hair/nail type",
            "description": "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene."
        },
        {
            "id": "MONDO:0013976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013976",
            "name": "HOXC13 pure hair and nail ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013976",
            "name": "ectodermal dysplasia 9, hair/nail type",
            "description": ""
        },
        {
            "id": "MONDO:0013976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013976",
            "name": "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13",
            "description": ""
        },
        {
            "id": "MONDO:0013976",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013976",
            "name": "ECTD9",
            "description": ""
        },
        {
            "id": "MIM:614931",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614931",
            "name": "Ectodermal dysplasia 9, hair/nail type",
            "description": "Ectodermal dysplasia 9, hair/nail type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111656"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111656",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111656",
            "categories": []
        },
        {
            "id": "MONDO:0013976",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013976",
            "categories": []
        },
        {
            "id": "MIM:614931",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614931",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6JIY5-1",
            "uniprot_ac": "Q6JIY5",
            "uniprot_id": "HXCDA_DANRE",
            "refseq_ac": "NP_571618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-C13a",
                    "type": "recommended"
                },
                {
                    "name": "homeo box C13a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-C13a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoxc13a",
                    "type": "recommended"
                },
                {
                    "name": "hoxc13a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6JIY5-1",
            "evidence": [
                {
                    "id": "0111656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6JIY4-1",
            "uniprot_ac": "Q6JIY4",
            "uniprot_id": "HXCDB_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-C13b",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "hoxc13b",
                    "type": "recommended"
                }
            ],
            "record_id": "Q6JIY4-1",
            "evidence": [
                {
                    "id": "0111656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50207-1",
            "uniprot_ac": "P50207",
            "uniprot_id": "HXC13_MOUSE",
            "refseq_ac": "NP_034594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-C13",
                    "type": "recommended"
                },
                {
                    "name": "homeobox protein Hox-C13",
                    "type": "synonym"
                },
                {
                    "name": "naked",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxc13",
                    "type": "recommended"
                },
                {
                    "name": "Hoxc-13",
                    "type": "synonym"
                },
                {
                    "name": "Hoxc13",
                    "type": "synonym"
                },
                {
                    "name": "N",
                    "type": "synonym"
                }
            ],
            "record_id": "P50207-1",
            "evidence": [
                {
                    "id": "0111656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31276-1",
            "uniprot_ac": "P31276",
            "uniprot_id": "HXC13_HUMAN",
            "refseq_ac": "NP_059106",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hox-C13",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-3G",
                    "type": "synonym"
                },
                {
                    "name": "NUP98/HOXC13",
                    "type": "synonym"
                },
                {
                    "name": "homeo box 3G",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-3G",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-C13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HOXC13",
                    "type": "recommended"
                },
                {
                    "name": "ECTD9",
                    "type": "synonym"
                },
                {
                    "name": "HOX3G",
                    "type": "synonym"
                },
                {
                    "name": "HOX3",
                    "type": "synonym"
                },
                {
                    "name": "HOXC13",
                    "type": "synonym"
                }
            ],
            "record_id": "P31276-1",
            "evidence": [
                {
                    "id": "614931",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614931"
                },
                {
                    "id": "0111656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZKV8-1",
            "uniprot_ac": "D3ZKV8",
            "uniprot_id": "D3ZKV8_RAT",
            "refseq_ac": "XP_235695",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox C13",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-C13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoxc13",
                    "type": "recommended"
                },
                {
                    "name": "Hoxc13",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZKV8-1",
            "evidence": [
                {
                    "id": "0111656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111656"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111656"
}