{
    "disease_id": "DOID:0112106",
    "recommended_name": {
        "id": "DOID:0112106",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112106",
        "name": "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",
        "description": "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0112106",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112106",
            "name": "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112106",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112106",
            "name": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type",
            "description": ""
        },
        {
            "id": "MONDO:0010463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010463",
            "name": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type",
            "description": "A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males."
        },
        {
            "id": "MONDO:0010463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010463",
            "name": "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010463",
            "name": "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant",
            "description": ""
        },
        {
            "id": "MIM:300863",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300863",
            "name": "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",
            "description": "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112106"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112106",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112106",
            "categories": []
        },
        {
            "id": "MONDO:0010463",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010463",
            "categories": []
        },
        {
            "id": "MIM:300863",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300863",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z2V5-1",
            "uniprot_ac": "Q9Z2V5",
            "uniprot_id": "HDAC6_MOUSE",
            "refseq_ac": "NP_001123888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein deacetylase HDAC6",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase 5",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase mHDA2",
                    "type": "synonym"
                },
                {
                    "name": "mHDA2",
                    "type": "synonym"
                },
                {
                    "name": "protein deacetylase HDAC6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "scurfy candidate 6",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hdac6",
                    "type": "recommended"
                },
                {
                    "name": "Hd6",
                    "type": "synonym"
                },
                {
                    "name": "Hdac5",
                    "type": "synonym"
                },
                {
                    "name": "Hdac6",
                    "type": "synonym"
                },
                {
                    "name": "Sfc6",
                    "type": "synonym"
                },
                {
                    "name": "mHDA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2V5-1",
            "evidence": [
                {
                    "id": "0112106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBN7-1",
            "uniprot_ac": "Q9UBN7",
            "uniprot_id": "HDAC6_HUMAN",
            "refseq_ac": "NP_001308155",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein deacetylase HDAC6",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "protein deacetylase HDAC6 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 90",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HDAC6",
                    "type": "recommended"
                },
                {
                    "name": "CPBHM",
                    "type": "synonym"
                },
                {
                    "name": "HD6",
                    "type": "synonym"
                },
                {
                    "name": "HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "JM21",
                    "type": "synonym"
                },
                {
                    "name": "KDAC6",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0901",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R90",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBN7-1",
            "evidence": [
                {
                    "id": "300863",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300863"
                },
                {
                    "id": "0112106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53973-1",
            "uniprot_ac": "P53973",
            "uniprot_id": "HDA1_YEAST",
            "refseq_ac": "NP_014377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone deacetylase HDA1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.98",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase HDA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HDA1",
                    "type": "recommended"
                },
                {
                    "name": "HDA1",
                    "type": "synonym"
                },
                {
                    "name": "N2819",
                    "type": "synonym"
                }
            ],
            "record_id": "P53973-1",
            "evidence": [
                {
                    "id": "0112106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADK2-1",
            "uniprot_ac": "D4ADK2",
            "uniprot_id": "D4ADK2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Or10a3",
                    "type": "recommended"
                }
            ],
            "record_id": "D4ADK2-1",
            "evidence": [
                {
                    "id": "0112106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GM68-1",
            "uniprot_ac": "A0A8I6GM68",
            "uniprot_id": "HDAC6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein deacetylase HDAC6",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hdac6",
                    "type": "recommended"
                },
                {
                    "name": "LOC103689963",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GM68-1",
            "evidence": [
                {
                    "id": "0112106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PJN5-1",
            "uniprot_ac": "M9PJN5",
            "uniprot_id": "M9PJN5_DROME",
            "refseq_ac": "NP_001259569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein deacetylase HDAC6",
                    "type": "recommended"
                },
                {
                    "name": "CG6170-PG",
                    "type": "synonym"
                },
                {
                    "name": "HDAC6-PG",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-lysine deacetylase HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase 6, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase 6",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase HDA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HDAC6",
                    "type": "recommended"
                },
                {
                    "name": "CG6170",
                    "type": "synonym"
                },
                {
                    "name": "DHDAC2",
                    "type": "synonym"
                },
                {
                    "name": "DmHDAC2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6170",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6170",
                    "type": "synonym"
                },
                {
                    "name": "HDAC2",
                    "type": "synonym"
                },
                {
                    "name": "HDAC6",
                    "type": "synonym"
                },
                {
                    "name": "HDAC",
                    "type": "synonym"
                },
                {
                    "name": "Hdac6",
                    "type": "synonym"
                },
                {
                    "name": "dHDAC2",
                    "type": "synonym"
                },
                {
                    "name": "dHDAC6",
                    "type": "synonym"
                },
                {
                    "name": "dmHDA404",
                    "type": "synonym"
                },
                {
                    "name": "hDAC6",
                    "type": "synonym"
                },
                {
                    "name": "hdac6",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PJN5-1",
            "evidence": [
                {
                    "id": "0112106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112106"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112106"
}