{
    "disease_id": "DOID:0070719",
    "recommended_name": {
        "id": "DOID:0070719",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070719",
        "name": "neurocardiorenal malformation syndrome",
        "description": "A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0980704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980704",
            "name": "neurocardiorenal malformation syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070719"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070719",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070719",
            "categories": []
        },
        {
            "id": "MONDO:0980704",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980704",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BRN9-1",
            "uniprot_ac": "Q9BRN9",
            "uniprot_id": "TM2D3_HUMAN",
            "refseq_ac": "NP_079417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TM2 domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "BBP-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-amyloid-binding protein-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "TM2 domain-containing protein 3 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "TM2 domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "almondex homolog",
                    "type": "synonym"
                },
                {
                    "name": "beta-amyloid-binding protein-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TM2D3",
                    "type": "recommended"
                },
                {
                    "name": "BLP2",
                    "type": "synonym"
                },
                {
                    "name": "NCRMS",
                    "type": "synonym"
                },
                {
                    "name": "TM2D3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BRN9-1",
            "evidence": [
                {
                    "id": "621379",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621379"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070719"
}