{
    "disease_id": "DOID:0070694",
    "recommended_name": {
        "id": "DOID:0070694",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070694",
        "name": "neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities",
        "description": "A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070694",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070694",
            "name": "NEDCRO",
            "description": ""
        },
        {
            "id": "MONDO:0980965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980965",
            "name": "neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070694"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070694",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070694",
            "categories": []
        },
        {
            "id": "MONDO:0980965",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980965",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8NHM5-1",
            "uniprot_ac": "Q8NHM5",
            "uniprot_id": "KDM2B_HUMAN",
            "refseq_ac": "NP_001005366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 2B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.27",
                    "type": "synonym"
                },
                {
                    "name": "CXXC-type zinc finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "F-box and leucine-rich repeat protein 10",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein FBL10",
                    "type": "synonym"
                },
                {
                    "name": "F-box/LRR-repeat protein 10",
                    "type": "synonym"
                },
                {
                    "name": "JEMMA (Jumonji domain, EMSY-interactor, methyltransferase motif) protein",
                    "type": "synonym"
                },
                {
                    "name": "JmjC domain-containing histone demethylation protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji domain-containing EMSY-interactor methyltransferase motif protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein JEMMA",
                    "type": "synonym"
                },
                {
                    "name": "Protein-containing CXXC domain 2",
                    "type": "synonym"
                },
                {
                    "name": "[Histone-H3]-lysine-36 demethylase 1B",
                    "type": "synonym"
                },
                {
                    "name": "jmjC domain-containing histone demethylation protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "jumonji C domain-containing histone demethylase 1B",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 2B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 2B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein-containing CXXC domain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KDM2B",
                    "type": "recommended"
                },
                {
                    "name": "CXXC2",
                    "type": "synonym"
                },
                {
                    "name": "FBL10",
                    "type": "synonym"
                },
                {
                    "name": "FBXL10",
                    "type": "synonym"
                },
                {
                    "name": "Fbl10",
                    "type": "synonym"
                },
                {
                    "name": "JHDM1B",
                    "type": "synonym"
                },
                {
                    "name": "KDM2B",
                    "type": "synonym"
                },
                {
                    "name": "NDY1",
                    "type": "synonym"
                },
                {
                    "name": "NEDCRO",
                    "type": "synonym"
                },
                {
                    "name": "PCCX2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NHM5-1",
            "evidence": [
                {
                    "id": "621474",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621474"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070694"
}