{
    "disease_id": "DOID:0060960",
    "recommended_name": {
        "id": "DOID:0060960",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060960",
        "name": "orofaciodigital syndrome XIX",
        "description": "An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060960",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060960",
            "name": "Oral-facial-digital syndrome type XIX",
            "description": ""
        },
        {
            "id": "MONDO:0859310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859310",
            "name": "orofaciodigital syndrome 19",
            "description": ""
        },
        {
            "id": "MIM:620107",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620107",
            "name": "Orofaciodigital syndrome 19",
            "description": "Orofaciodigital syndrome 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060960"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060960",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060960",
            "categories": []
        },
        {
            "id": "MONDO:0859310",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859310",
            "categories": []
        },
        {
            "id": "MIM:620107",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620107",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2YDS5-1",
            "uniprot_ac": "Q2YDS5",
            "uniprot_id": "SCNM1_DANRE",
            "refseq_ac": "NP_001001813",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scnm1",
                    "type": "recommended"
                },
                {
                    "name": "fb30c06",
                    "type": "synonym"
                },
                {
                    "name": "scnm1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb30c06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123015",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2YDS5-1",
            "evidence": [
                {
                    "id": "0060960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K136-1",
            "uniprot_ac": "Q8K136",
            "uniprot_id": "SCNM1_MOUSE",
            "refseq_ac": "NP_001396781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel modifier 1, pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnm1",
                    "type": "recommended"
                },
                {
                    "name": "3110001I17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Scnm1-ps",
                    "type": "synonym"
                },
                {
                    "name": "Scnm1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K136-1",
            "evidence": [
                {
                    "id": "0060960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BWG6-1",
            "uniprot_ac": "Q9BWG6",
            "uniprot_id": "SCNM1_HUMAN",
            "refseq_ac": "NP_001191777",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel modifier 1",
                    "type": "synonym"
                },
                {
                    "name": "TNFAIP8L2-SCNM1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCNM1",
                    "type": "recommended"
                },
                {
                    "name": "TNFAIP8L2-SCNM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BWG6-1",
            "evidence": [
                {
                    "id": "620107",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620107"
                },
                {
                    "id": "0060960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZSG3-1",
            "uniprot_ac": "D3ZSG3",
            "uniprot_id": "D3ZSG3_RAT",
            "refseq_ac": "NP_001099919",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomodulin 4",
                    "type": "synonym"
                },
                {
                    "name": "tropomodulin-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnm1",
                    "type": "recommended"
                },
                {
                    "name": "Tmod4",
                    "type": "recommended"
                },
                {
                    "name": "Tmod4",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZSG3-1",
            "evidence": [
                {
                    "id": "0060960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060960"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060960"
}