{
    "disease_id": "DOID:0070704",
    "recommended_name": {
        "id": "DOID:0070704",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070704",
        "name": "dentin dysplasia type IA",
        "description": "A dentin dysplasia characterized by oligodontia, microdontia with very globular and malformed teeth and incisal notches, taurodontism of the molar teeth, and short roots that has_material_basis_in homozygous mutation in the SMOC2 gene on chromosome 6q27."
    },
    "synonyms": [
        {
            "id": "DOID:0070704",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070704",
            "name": "atypical dentin dysplasia due to SMOC2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0017819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0017819",
            "name": "atypical dentin dysplasia due to SMOC2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0017819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0017819",
            "name": "dentin dysplasia type 1 with microdontia and shape anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0017819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0017819",
            "name": "dentin dysplasia, type IA",
            "description": ""
        },
        {
            "id": "MIM:125400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/125400",
            "name": "Dentin dysplasia 1",
            "description": "Dentin dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070704"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070704",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070704",
            "categories": []
        },
        {
            "id": "MONDO:0017819",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0017819",
            "categories": []
        },
        {
            "id": "MIM:125400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/125400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H3U7-1",
            "uniprot_ac": "Q9H3U7",
            "uniprot_id": "SMOC2_HUMAN",
            "refseq_ac": "NP_001159884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPARC-related modular calcium-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "SMAP-2",
                    "type": "synonym"
                },
                {
                    "name": "SMOC-2",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-related modular calcium-binding protein 2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-related modular calcium-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Secreted modular calcium-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Smooth muscle-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "secreted modular calcium-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "smooth muscle associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "thyroglobulin type-1 repeat containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMOC2",
                    "type": "recommended"
                },
                {
                    "name": "DTDP1A",
                    "type": "synonym"
                },
                {
                    "name": "DTDP1",
                    "type": "synonym"
                },
                {
                    "name": "MST117",
                    "type": "synonym"
                },
                {
                    "name": "MSTP117",
                    "type": "synonym"
                },
                {
                    "name": "MSTP140",
                    "type": "synonym"
                },
                {
                    "name": "SMAP2",
                    "type": "synonym"
                },
                {
                    "name": "SMOC2",
                    "type": "synonym"
                },
                {
                    "name": "bA270C4A.1",
                    "type": "synonym"
                },
                {
                    "name": "bA37D8.1",
                    "type": "synonym"
                },
                {
                    "name": "dJ421D16.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3U7-1",
            "evidence": [
                {
                    "id": "125400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/125400"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070704"
}