{
    "disease_id": "DOID:0111669",
    "recommended_name": {
        "id": "DOID:0111669",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111669",
        "name": "hyaline fibromatosis syndrome",
        "description": "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111669",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111669",
            "name": "HFS",
            "description": ""
        },
        {
            "id": "DOID:0111669",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111669",
            "name": "inherited systemic hyalinosis",
            "description": ""
        },
        {
            "id": "DOID:0111669",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111669",
            "name": "puretic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111669",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111669",
            "name": "systemic hyalinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009229",
            "name": "hyaline fibromatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009229",
            "name": "hyaline fibromatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009229",
            "name": "HFS",
            "description": ""
        },
        {
            "id": "MONDO:0009229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009229",
            "name": "infantile systemic hyalinosis (former subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0009229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009229",
            "name": "inherited systemic hyalinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009229",
            "name": "juvenile hyaline fibromatosis (former subtype)",
            "description": ""
        },
        {
            "id": "MIM:228600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228600",
            "name": "Hyaline fibromatosis syndrome",
            "description": "Hyaline fibromatosis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111669"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111669",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111669",
            "categories": []
        },
        {
            "id": "MONDO:0009229",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009229",
            "categories": []
        },
        {
            "id": "MIM:228600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DFX2-1",
            "uniprot_ac": "Q6DFX2",
            "uniprot_id": "ANTR2_MOUSE",
            "refseq_ac": "NP_598499",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anthrax toxin receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "anthrax toxin receptor 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Antxr2",
                    "type": "recommended"
                },
                {
                    "name": "2310046B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Antxr2",
                    "type": "synonym"
                },
                {
                    "name": "CMG-2",
                    "type": "synonym"
                },
                {
                    "name": "CMG2",
                    "type": "synonym"
                },
                {
                    "name": "cI-35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DFX2-1",
            "evidence": [
                {
                    "id": "0111669",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111669"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58335-1",
            "uniprot_ac": "P58335",
            "uniprot_id": "ANTR2_HUMAN",
            "refseq_ac": "NP_001139266",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anthrax toxin receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "CMG-2",
                    "type": "synonym"
                },
                {
                    "name": "Capillary morphogenesis gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "anthrax toxin receptor 2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "anthrax toxin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "capillary morphogenesis gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "capillary morphogenesis protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANTXR2",
                    "type": "recommended"
                },
                {
                    "name": "ANTXR2",
                    "type": "synonym"
                },
                {
                    "name": "CMG-2",
                    "type": "synonym"
                },
                {
                    "name": "CMG2",
                    "type": "synonym"
                },
                {
                    "name": "HFS",
                    "type": "synonym"
                },
                {
                    "name": "ISH",
                    "type": "synonym"
                },
                {
                    "name": "JHF",
                    "type": "synonym"
                }
            ],
            "record_id": "P58335-1",
            "evidence": [
                {
                    "id": "228600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228600"
                },
                {
                    "id": "0111669",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111669"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZVI5-1",
            "uniprot_ac": "A0A8I5ZVI5",
            "uniprot_id": "A0A8I5ZVI5_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": "Anthrax toxin receptor",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Antxr2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZVI5-1",
            "evidence": [
                {
                    "id": "0111669",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111669"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111669"
}