{
    "disease_id": "DOID:0060768",
    "recommended_name": {
        "id": "DOID:0060768",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060768",
        "name": "Smith-Magenis syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region."
    },
    "synonyms": [
        {
            "id": "DOID:0060768",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060768",
            "name": "17p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060768",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060768",
            "name": "chromosome 17p11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis syndrome",
            "description": "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay."
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "17p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "SMITH-Magenis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "SMS",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith Magenis Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis syndrome, Isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "chromosome 17P11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "chromosome 17p11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MIM:182290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182290",
            "name": "Smith-Magenis syndrome",
            "description": "Smith-Magenis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060768"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060768",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060768",
            "categories": []
        },
        {
            "id": "MONDO:0008434",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "categories": []
        },
        {
            "id": "MIM:182290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/182290",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61818-1",
            "uniprot_ac": "Q61818",
            "uniprot_id": "RAI1_MOUSE",
            "refseq_ac": "NP_001032853",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid-induced protein 1",
                    "type": "recommended"
                },
                {
                    "name": "retinoic acid-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rai1",
                    "type": "recommended"
                },
                {
                    "name": "Gt1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1820",
                    "type": "synonym"
                },
                {
                    "name": "Rai1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61818-1",
            "evidence": [
                {
                    "id": "0060768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D1H9-1",
            "uniprot_ac": "Q9D1H9",
            "uniprot_id": "MFAP4_MOUSE",
            "refseq_ac": "NP_001334474",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microfibril-associated glycoprotein 4",
                    "type": "recommended"
                },
                {
                    "name": "microfibril-associated glycoprotein 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "microfibril-associated glycoprotein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfap4",
                    "type": "recommended"
                },
                {
                    "name": "1110007F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mfap4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D1H9-1",
            "evidence": [
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                    "id": "0060768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z5J4-1",
            "uniprot_ac": "Q7Z5J4",
            "uniprot_id": "RAI1_HUMAN",
            "refseq_ac": "NP_109590",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid-induced protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Smith-Magenis syndrome chromosome region",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAI1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1820",
                    "type": "synonym"
                },
                {
                    "name": "RAI1",
                    "type": "synonym"
                },
                {
                    "name": "SMCR",
                    "type": "synonym"
                },
                {
                    "name": "SMS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z5J4-1",
            "evidence": [
                {
                    "id": "182290",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/182290"
                },
                {
                    "id": "0060768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K4G0-1",
            "uniprot_ac": "A0A0G2K4G0",
            "uniprot_id": "A0A0G2K4G0_RAT",
            "refseq_ac": "NP_001258136",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoic acid induced 1",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rai1",
                    "type": "recommended"
                },
                {
                    "name": "Rai1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K4G0-1",
            "evidence": [
                {
                    "id": "0060768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6A9-1",
            "uniprot_ac": "G3V6A9",
            "uniprot_id": "G3V6A9_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microfibril-associated glycoprotein 4",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfap4",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V6A9-1",
            "evidence": [
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                    "id": "0060768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K7T3-1",
            "uniprot_ac": "A0A0B4K7T3",
            "uniprot_id": "A0A0B4K7T3_DROME",
            "refseq_ac": "NP_001246376",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrinogen C-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5550-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fibrinogen-like",
                    "type": "synonym"
                },
                {
                    "name": "Fibrinogen-related protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AAF57948",
                    "type": "recommended"
                },
                {
                    "name": "AAL48972",
                    "type": "recommended"
                },
                {
                    "name": "AAF57948",
                    "type": "synonym"
                },
                {
                    "name": "AAL48972",
                    "type": "synonym"
                },
                {
                    "name": "CG5550",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5550",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5550",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0086184",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K7T3-1",
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                {
                    "id": "0060768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55083-1",
            "uniprot_ac": "P55083",
            "uniprot_id": "MFAP4_HUMAN",
            "refseq_ac": "NP_001185624",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microfibril-associated glycoprotein 4",
                    "type": "recommended"
                },
                {
                    "name": "microfibril-associated glycoprotein 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "microfibrillar associated protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MFAP4",
                    "type": "recommended"
                },
                {
                    "name": "MFAP4",
                    "type": "synonym"
                }
            ],
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                    "id": "0060768",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060768"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060768"
}