{
    "disease_id": "DOID:0111582",
    "recommended_name": {
        "id": "DOID:0111582",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111582",
        "name": "hereditary arterial and articular multiple calcification syndrome",
        "description": "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111582",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111582",
            "name": "CALJA",
            "description": ""
        },
        {
            "id": "DOID:0111582",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111582",
            "name": "arterial calcification and distal joint calcification",
            "description": ""
        },
        {
            "id": "DOID:0111582",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111582",
            "name": "arterial calcification due to CD73 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111582",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111582",
            "name": "calcification of joints and arteries",
            "description": ""
        },
        {
            "id": "DOID:0111582",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111582",
            "name": "arterial calcification due to deficiency of CD73",
            "description": ""
        },
        {
            "id": "MONDO:0008895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008895",
            "name": "hereditary arterial and articular multiple calcification syndrome",
            "description": "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints."
        },
        {
            "id": "MONDO:0008895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008895",
            "name": "CALJA",
            "description": ""
        },
        {
            "id": "MONDO:0008895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008895",
            "name": "calcification of joints and arteries",
            "description": ""
        },
        {
            "id": "MONDO:0008895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008895",
            "name": "ACDC",
            "description": ""
        },
        {
            "id": "MONDO:0008895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008895",
            "name": "arterial calcification and distal joint calcification",
            "description": ""
        },
        {
            "id": "MONDO:0008895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008895",
            "name": "arterial calcification due to CD73 deficiency",
            "description": ""
        },
        {
            "id": "MIM:211800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211800",
            "name": "Calcification of joints and arteries",
            "description": "Calcification of joints and arteries"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111582"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111582",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111582",
            "categories": []
        },
        {
            "id": "MONDO:0008895",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008895",
            "categories": []
        },
        {
            "id": "MIM:211800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211800",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A8M1PBZ9",
            "uniprot_id": "A0A8M1PBZ9_DANRE",
            "refseq_ac": "NP_957226",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "5'-nucleotidase",
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                },
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                },
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                    "name": "zgc:63784",
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                }
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        },
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            "uniprot_ac": "Q61503",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                }
            ],
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                    "type": "synonym"
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                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                },
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                    "type": "synonym"
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                    "name": "thymidylate 5'-phosphatase",
                    "type": "synonym"
                }
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                    "name": "Nt5e",
                    "type": "recommended"
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                    "name": "2210401F01Rik",
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                },
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                    "name": "CD73",
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                    "name": "Nt5e",
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                    "id": "0111582",
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            ]
        },
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Tumor necrosis factor receptor superfamily member 11B",
                    "type": "recommended"
                },
                {
                    "name": "Osteoclastogenesis inhibitory factor",
                    "type": "synonym"
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                {
                    "name": "Osteoprotegerin",
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                },
                {
                    "name": "osteoclastogenesis inhibitory factor",
                    "type": "synonym"
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                    "name": "osteoprotegerin",
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                },
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                    "name": "tumor necrosis factor receptor superfamily member 11B isoform 1 precursor",
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            ],
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                {
                    "name": "Tnfrsf11b",
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                    "name": "OCIF",
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                },
                {
                    "name": "Ocif",
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                },
                {
                    "name": "Opg",
                    "type": "synonym"
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                    "name": "TR1",
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                },
                {
                    "name": "Tnfrsf11b",
                    "type": "synonym"
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            ],
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        },
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            "uniprot_canonical_ac": "P21589-1",
            "uniprot_ac": "P21589",
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                    "name": "Homo sapiens",
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                    "type": "synonym"
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                    "type": "synonym"
                },
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                    "name": "Purine 5-Prime-Nucleotidase",
                    "type": "synonym"
                },
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                    "name": "Thymidylate 5'-phosphatase",
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                },
                {
                    "name": "ecto-5'-nucleotidase",
                    "type": "synonym"
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                {
                    "name": "thymidylate 5'-phosphatase",
                    "type": "synonym"
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                    "name": "CALJA",
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                },
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                    "type": "synonym"
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                    "name": "E5NT",
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                    "name": "NT5",
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                    "name": "PDB5",
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                    "name": "TNFRSF11B",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111582"
}