{
    "biomarker_id": "BB3824-1",
    "biomarker_canonical_id": "BB3824",
    "condition": {
        "recommended_name": {
            "id": "DOID:1064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:1064",
            "name": "cystinosis",
            "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17."
        },
        "synonyms": [
            {
                "id": "DOID:1064",
                "resource": "Disease Ontology",
                "url": "https://disease-ontology.org/term/DOID:1064",
                "name": "cystine storage disease",
                "description": ""
            },
            {
                "id": "MONDO:0009064",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                "name": "ocular cystinosis",
                "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
            },
            {
                "id": "MONDO:0009064",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                "name": "adult-onset cystinosis",
                "description": ""
            },
            {
                "id": "MONDO:0009064",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                "name": "non-nephropathic cystinosis",
                "description": ""
            },
            {
                "id": "MONDO:0009064",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                "name": "ocular cystinosis",
                "description": ""
            },
            {
                "id": "MONDO:0009066",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                "name": "juvenile nephropathic cystinosis",
                "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
            },
            {
                "id": "MONDO:0009066",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                "name": "cystinosis, late-onset juvenile or adolescent nephropathic",
                "description": ""
            },
            {
                "id": "MONDO:0009066",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                "name": "intermediate cystinosis",
                "description": ""
            },
            {
                "id": "MONDO:0009066",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                "name": "juvenile cystinosis",
                "description": ""
            },
            {
                "id": "MONDO:0009066",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                "name": "juvenile nephropathic cystinosis",
                "description": ""
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "nephropathic cystinosis",
                "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction."
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "Abderhalden Kaufmann Lignac syndrome",
                "description": ""
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "Abderhalden Lignac Kaufmann disease",
                "description": ""
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "Abderhalden-Kaufmann-Lignac syndrome",
                "description": ""
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "Abderhalden-Lignac-Kaufmann disease",
                "description": ""
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "CTNS",
                "description": ""
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "cystinosis, atypical nephropathic",
                "description": ""
            },
            {
                "id": "MONDO:0100151",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                "name": "cystinosis, nephropathic",
                "description": ""
            },
            {
                "id": "MIM:219750",
                "resource": "MIM",
                "url": "https://www.omim.org/entry/219750",
                "name": "Cystinosis, adult, non-nephropathic type",
                "description": "Cystinosis, adult, non-nephropathic type"
            },
            {
                "id": "MIM:219900",
                "resource": "MIM",
                "url": "https://www.omim.org/entry/219900",
                "name": "Cystinosis, late-onset juvenile or adolescent nephropathic type",
                "description": "Cystinosis, late-onset juvenile or adolescent nephropathic type"
            },
            {
                "id": "MIM:219800",
                "resource": "MIM",
                "url": "https://www.omim.org/entry/219800",
                "name": "Cystinosis, nephropathic type",
                "description": "Cystinosis, nephropathic type"
            }
        ],
        "id": "DOID:1064"
    },
    "biomarker_component": [
        {
            "biomarker": "decreased level of FA2 on immunoglobulin G",
            "assessed_biomarker_entity_id": "P01825-1",
            "assessed_entity_type": "protein",
            "assessed_biomarker_entity": {
                "recommended_name": "Immunoglobulin heavy variable 4-59",
                "synonyms": [
                    {
                        "synonym": "Ig heavy chain V-II region NEWM"
                    }
                ]
            },
            "specimen": [
                {
                    "name": "blood serum",
                    "namespace": "UBERON",
                    "id": "0001977",
                    "url": "http://purl.obolibrary.org/obo/UBERON_0001977",
                    "loinc_code": ""
                }
            ],
            "evidence_source": [
                {
                    "id": "BB3824-1",
                    "database": "BiomarkerKB",
                    "url": "https://biomarkerkb.org/biomarker/BB3824-1"
                },
                {
                    "id": "40843950",
                    "database": "PubMed",
                    "url": "",
                    "tags": [
                        "assessed_biomarker_entity_id",
                        " assessed_biomarker_entiy",
                        " assessed_entity_type",
                        " biomarker",
                        " specimen"
                    ],
                    "evidence_list": [
                        {
                            "evidence": "The glycan peak GP3 containing the most abundant agalactosylated glycan, FA2, displayed different abundances between the two NC status at a 10% significance level (P = 0.092). For IgG N-glycosylation, the NC status neared significance for several glycan peaks and traits, most notably those associated with the absence of galactosylation (G0)."
                        }
                    ]
                }
            ]
        }
    ],
    "best_biomarker_role": [
        {
            "role": ""
        }
    ],
    "evidence_source": [
        {
            "id": "BB3824-1",
            "database": "BiomarkerKB",
            "url": "https://biomarkerkb.org/biomarker/BB3824-1"
        },
        {
            "id": "40843950",
            "database": "PubMed",
            "url": "",
            "tags": [
                "condition"
            ],
            "evidence_list": [
                {
                    "evidence": "The glycan peak GP3 containing the most abundant agalactosylated glycan, FA2, displayed different abundances between the two NC status at a 10% significance level (P = 0.092). For IgG N-glycosylation, the NC status neared significance for several glycan peaks and traits, most notably those associated with the absence of galactosylation (G0)."
                }
            ]
        }
    ],
    "crossref": [
        {
            "id": "BB3824-1",
            "database": "BiomarkerKB",
            "url": "https://biomarkerkb.org/biomarker/BB3824-1",
            "categories": [
                "Biomarkers"
            ]
        }
    ],
    "citation": [],
    "section_stats": [
        {
            "table_id": "biomarker_component",
            "table_stats": [
                {
                    "field": "total",
                    "count": 1
                }
            ],
            "sort_fields": [
                "biomarker",
                "assessed_biomarker_entity_id",
                "assessed_entity_type",
                "assessed_biomarker_entity.recommended_name"
            ]
        },
        {
            "table_id": "citation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                }
            ],
            "sort_fields": []
        }
    ]
}