{
    "disease_id": "DOID:0080033",
    "recommended_name": {
        "id": "DOID:0080033",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080033",
        "name": "craniometaphyseal dysplasia",
        "description": "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses."
    },
    "synonyms": [
        {
            "id": "MONDO:0007397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007397",
            "name": "craniometaphyseal dysplasia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007397",
            "name": "craniometaphyseal dysplasia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007397",
            "name": "CMD",
            "description": ""
        },
        {
            "id": "MONDO:0007397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007397",
            "name": "CMDD",
            "description": ""
        },
        {
            "id": "MONDO:0007397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007397",
            "name": "CMDJ",
            "description": ""
        },
        {
            "id": "MONDO:0007397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007397",
            "name": "craniometaphyseal dysplasia Jackson type",
            "description": ""
        },
        {
            "id": "MIM:123000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/123000",
            "name": "Craniometaphyseal dysplasia, autosomal dominant",
            "description": "Craniometaphyseal dysplasia, autosomal dominant"
        }
    ],
    "children": [
        {
            "id": "DOID:0080801",
            "label": "autosomal dominant craniometaphyseal dysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080802",
            "label": "autosomal recessive craniometaphyseal dysplasia",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080801",
        "DOID:0080033",
        "DOID:0080802"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080033",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080033",
            "categories": []
        },
        {
            "id": "MONDO:0007397",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007397",
            "categories": []
        },
        {
            "id": "MIM:123000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/123000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P58368-1",
            "uniprot_ac": "P58368",
            "uniprot_id": "ANKHB_DANRE",
            "refseq_ac": "NP_919351",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progressive ankylosis protein homolog B",
                    "type": "recommended"
                },
                {
                    "name": "ANK-B",
                    "type": "synonym"
                },
                {
                    "name": "ankylosis, progressive homolog b",
                    "type": "synonym"
                },
                {
                    "name": "progressive ankylosis protein homolog B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ankhb",
                    "type": "recommended"
                },
                {
                    "name": "ankhb",
                    "type": "synonym"
                },
                {
                    "name": "ankh",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-106c5.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc08d03",
                    "type": "synonym"
                }
            ],
            "record_id": "P58368-1",
            "evidence": [
                {
                    "id": "0080033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q528-1",
            "uniprot_ac": "F1Q528",
            "uniprot_id": "F1Q528_DANRE",
            "refseq_ac": "NP_001025430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ANKH inorganic pyrophosphate transport regulator a",
                    "type": "synonym"
                },
                {
                    "name": "ankylosis, progressive homolog a",
                    "type": "synonym"
                },
                {
                    "name": "progressive ankylosis-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ankha",
                    "type": "recommended"
                },
                {
                    "name": "ankha",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj64g09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110290",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q528-1",
            "evidence": [
                {
                    "id": "0080033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHZ2-1",
            "uniprot_ac": "Q9JHZ2",
            "uniprot_id": "ANKH_MOUSE",
            "refseq_ac": "NP_065065",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mineralization regulator ANKH",
                    "type": "recommended"
                },
                {
                    "name": "ANK",
                    "type": "synonym"
                },
                {
                    "name": "ATP carrier protein ANKH",
                    "type": "synonym"
                },
                {
                    "name": "Fn54 protein",
                    "type": "synonym"
                },
                {
                    "name": "Progressive ankylosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "fn54 protein",
                    "type": "synonym"
                },
                {
                    "name": "mineralization regulator ANKH",
                    "type": "synonym"
                },
                {
                    "name": "progressive ankylosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "progressive ankylosis protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ankh",
                    "type": "recommended"
                },
                {
                    "name": "Ankh",
                    "type": "synonym"
                },
                {
                    "name": "Ank",
                    "type": "synonym"
                },
                {
                    "name": "D15Ertd221e",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1581",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHZ2-1",
            "evidence": [
                {
                    "id": "0080033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCJ1-1",
            "uniprot_ac": "Q9HCJ1",
            "uniprot_id": "ANKH_HUMAN",
            "refseq_ac": "NP_473368",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mineralization regulator ANKH",
                    "type": "recommended"
                },
                {
                    "name": "ANK",
                    "type": "synonym"
                },
                {
                    "name": "ATP carrier protein ANKH",
                    "type": "synonym"
                },
                {
                    "name": "Progressive ankylosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ankylosis, progressive homolog",
                    "type": "synonym"
                },
                {
                    "name": "mineralization regulator ANKH isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mineralization regulator ANKH",
                    "type": "synonym"
                },
                {
                    "name": "progressive ankylosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 62, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANKH",
                    "type": "recommended"
                },
                {
                    "name": "ANKH",
                    "type": "synonym"
                },
                {
                    "name": "ANK",
                    "type": "synonym"
                },
                {
                    "name": "CCAL2",
                    "type": "synonym"
                },
                {
                    "name": "CMDJ",
                    "type": "synonym"
                },
                {
                    "name": "CPPDD",
                    "type": "synonym"
                },
                {
                    "name": "HANK",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1581",
                    "type": "synonym"
                },
                {
                    "name": "MANK",
                    "type": "synonym"
                },
                {
                    "name": "PRO274",
                    "type": "synonym"
                },
                {
                    "name": "SLC62A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCJ1-1",
            "evidence": [
                {
                    "id": "123000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/123000"
                },
                {
                    "id": "0080033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58366-1",
            "uniprot_ac": "P58366",
            "uniprot_id": "ANKH_RAT",
            "refseq_ac": "NP_446166",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mineralization regulator ANKH",
                    "type": "recommended"
                },
                {
                    "name": "ANK",
                    "type": "synonym"
                },
                {
                    "name": "ATP carrier protein ANKH",
                    "type": "synonym"
                },
                {
                    "name": "Progressive ankylosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ankylosis, progressive homolog",
                    "type": "synonym"
                },
                {
                    "name": "mineralization regulator ANKH",
                    "type": "synonym"
                },
                {
                    "name": "progressive ankylosis homolog",
                    "type": "synonym"
                },
                {
                    "name": "progressive ankylosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 61 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ankh",
                    "type": "recommended"
                },
                {
                    "name": "Ankh",
                    "type": "synonym"
                },
                {
                    "name": "Ank",
                    "type": "synonym"
                },
                {
                    "name": "SLC61A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P58366-1",
            "evidence": [
                {
                    "id": "0080033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080033"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080033"
}