{
    "disease_id": "DOID:0111248",
    "recommended_name": {
        "id": "DOID:0111248",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111248",
        "name": "cerebrocostomandibular syndrome",
        "description": "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111248",
            "name": "CCM syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111248",
            "name": "CCMS",
            "description": ""
        },
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111248",
            "name": "cerebro-costo-mandibular syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111248",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111248",
            "name": "rib gap defects with micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "cerebrocostomandibular syndrome",
            "description": "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis."
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "cerebrocostomandibular syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "CCM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "CCMS",
            "description": ""
        },
        {
            "id": "MONDO:0007301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "name": "cerebro-costo-mandibular syndrome",
            "description": ""
        },
        {
            "id": "MIM:117650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/117650",
            "name": "Cerebrocostomandibular syndrome",
            "description": "Cerebrocostomandibular syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111248"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111248",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111248",
            "categories": []
        },
        {
            "id": "MONDO:0007301",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007301",
            "categories": []
        },
        {
            "id": "MIM:117650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/117650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P27048-1",
            "uniprot_ac": "P27048",
            "uniprot_id": "RSMB_MOUSE",
            "refseq_ac": "NP_033251",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small nuclear ribonucleoprotein-associated protein B",
                    "type": "recommended"
                },
                {
                    "name": "Sm protein B",
                    "type": "synonym"
                },
                {
                    "name": "Sm-B",
                    "type": "synonym"
                },
                {
                    "name": "SmB",
                    "type": "synonym"
                },
                {
                    "name": "sm protein B",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein-associated protein B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein-associated protein B",
                    "type": "synonym"
                },
                {
                    "name": "snRNP-B",
                    "type": "synonym"
                },
                {
                    "name": "snRPB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snrpb",
                    "type": "recommended"
                },
                {
                    "name": "SM-B",
                    "type": "synonym"
                },
                {
                    "name": "SM11",
                    "type": "synonym"
                },
                {
                    "name": "SMB",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP-B",
                    "type": "synonym"
                },
                {
                    "name": "Snrpb",
                    "type": "synonym"
                }
            ],
            "record_id": "P27048-1",
            "evidence": [
                {
                    "id": "0111248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14678-1",
            "uniprot_ac": "P14678",
            "uniprot_id": "RSMB_HUMAN",
            "refseq_ac": "NP_003082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small nuclear ribonucleoprotein-associated proteins B and B'",
                    "type": "recommended"
                },
                {
                    "name": "B polypeptide of Sm protein",
                    "type": "synonym"
                },
                {
                    "name": "Sm protein B/B'",
                    "type": "synonym"
                },
                {
                    "name": "Sm-B/B'",
                    "type": "synonym"
                },
                {
                    "name": "SmB/B'",
                    "type": "synonym"
                },
                {
                    "name": "sm-B/Sm-B'",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein polypeptide B",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein polypeptides B and B'",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein-associated proteins B and B' isoform B",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein-associated proteins B and B'",
                    "type": "synonym"
                },
                {
                    "name": "snRNP-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNRPB",
                    "type": "recommended"
                },
                {
                    "name": "CCMS",
                    "type": "synonym"
                },
                {
                    "name": "COD",
                    "type": "synonym"
                },
                {
                    "name": "SNRPB1",
                    "type": "synonym"
                },
                {
                    "name": "SNRPB",
                    "type": "synonym"
                },
                {
                    "name": "Sm-B/B'",
                    "type": "synonym"
                },
                {
                    "name": "SmB/B'",
                    "type": "synonym"
                },
                {
                    "name": "SmB/SmB'",
                    "type": "synonym"
                },
                {
                    "name": "snRNP-B",
                    "type": "synonym"
                }
            ],
            "record_id": "P14678-1",
            "evidence": [
                {
                    "id": "117650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/117650"
                },
                {
                    "id": "0111248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40018-1",
            "uniprot_ac": "P40018",
            "uniprot_id": "RSMB_YEAST",
            "refseq_ac": "NP_010946",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small nuclear ribonucleoprotein-associated protein B",
                    "type": "recommended"
                },
                {
                    "name": "Sm protein B",
                    "type": "synonym"
                },
                {
                    "name": "Sm-B",
                    "type": "synonym"
                },
                {
                    "name": "SmB",
                    "type": "synonym"
                },
                {
                    "name": "mRNA splicing protein SMB1",
                    "type": "synonym"
                },
                {
                    "name": "snRNP-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMB1",
                    "type": "recommended"
                },
                {
                    "name": "SMB1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40018-1",
            "evidence": [
                {
                    "id": "0111248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17136-1",
            "uniprot_ac": "P17136",
            "uniprot_id": "RSMB_RAT",
            "refseq_ac": "NP_599185",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small nuclear ribonucleoprotein-associated protein B",
                    "type": "recommended"
                },
                {
                    "name": "SM11",
                    "type": "synonym"
                },
                {
                    "name": "Sm protein B",
                    "type": "synonym"
                },
                {
                    "name": "Sm-B",
                    "type": "synonym"
                },
                {
                    "name": "SmB",
                    "type": "synonym"
                },
                {
                    "name": "sm protein B",
                    "type": "synonym"
                },
                {
                    "name": "sm-B",
                    "type": "synonym"
                },
                {
                    "name": "smB",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein-associated protein B",
                    "type": "synonym"
                },
                {
                    "name": "snRNP-B",
                    "type": "synonym"
                },
                {
                    "name": "snRPB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snrpb",
                    "type": "recommended"
                },
                {
                    "name": "Snrpb",
                    "type": "synonym"
                }
            ],
            "record_id": "P17136-1",
            "evidence": [
                {
                    "id": "0111248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05856-1",
            "uniprot_ac": "Q05856",
            "uniprot_id": "RSMB_DROME",
            "refseq_ac": "NP_001188780",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small nuclear ribonucleoprotein-associated protein B",
                    "type": "recommended"
                },
                {
                    "name": "CG5352-PB",
                    "type": "synonym"
                },
                {
                    "name": "Sm protein B",
                    "type": "synonym"
                },
                {
                    "name": "Sm-B",
                    "type": "synonym"
                },
                {
                    "name": "SmB-PB",
                    "type": "synonym"
                },
                {
                    "name": "SmB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH0509",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide B",
                    "type": "synonym"
                },
                {
                    "name": "small ribonucleoprotein particle protein B",
                    "type": "synonym"
                },
                {
                    "name": "small ribonucleoprotein particle protein SmB",
                    "type": "synonym"
                },
                {
                    "name": "snRNP-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SmB",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG5352",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5352",
                    "type": "synonym"
                },
                {
                    "name": "SYM10",
                    "type": "synonym"
                },
                {
                    "name": "Sm B",
                    "type": "synonym"
                },
                {
                    "name": "SmB1",
                    "type": "synonym"
                },
                {
                    "name": "SmB",
                    "type": "synonym"
                },
                {
                    "name": "Smb",
                    "type": "synonym"
                },
                {
                    "name": "dSmB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH0509",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 0509",
                    "type": "synonym"
                },
                {
                    "name": "smb",
                    "type": "synonym"
                },
                {
                    "name": "snRNP B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05856-1",
            "evidence": [
                {
                    "id": "0111248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111248"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111248"
}