{
    "disease_id": "DOID:0060802",
    "recommended_name": {
        "id": "DOID:0060802",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060802",
        "name": "syndromic X-linked intellectual disability Snyder type",
        "description": "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060802",
            "name": "SRS",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060802",
            "name": "Snyder-Robinson mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060802",
            "name": "Snyder-Robinson syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060802",
            "name": "mental retardation, X-linked, Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060802",
            "name": "spermine synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "syndromic X-linked intellectual disability Snyder type",
            "description": "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed."
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "SRS",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "Snyder-Robinson Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "Snyder-Robinson intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "Snyder-Robinson mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "Snyder-Robinson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "intellectual disability, X-linked, Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "syndromic X-linked intellectual disability Snyder type",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "MRXSSR",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "X-linked intellectual disability Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "X-linked mental retardation Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "intellectual disability, X-linked, syndromic, Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "mental retardation, X-linked, syndromic, Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "MIM:309583",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309583",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060802"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060802",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060802",
            "categories": []
        },
        {
            "id": "MONDO:0010664",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "categories": []
        },
        {
            "id": "MIM:309583",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309583",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97355-1",
            "uniprot_ac": "P97355",
            "uniprot_id": "SPSY_MOUSE",
            "refseq_ac": "NP_033240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.22",
                    "type": "synonym"
                },
                {
                    "name": "SPMSY",
                    "type": "synonym"
                },
                {
                    "name": "Spermidine aminopropyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "spermidine aminopropyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "spermine synthase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sms",
                    "type": "recommended"
                },
                {
                    "name": "Gy",
                    "type": "synonym"
                },
                {
                    "name": "SPMSY",
                    "type": "synonym"
                },
                {
                    "name": "Sms",
                    "type": "synonym"
                },
                {
                    "name": "SpmST",
                    "type": "synonym"
                },
                {
                    "name": "gyro",
                    "type": "synonym"
                }
            ],
            "record_id": "P97355-1",
            "evidence": [
                {
                    "id": "0060802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52788-1",
            "uniprot_ac": "P52788",
            "uniprot_id": "SPSY_HUMAN",
            "refseq_ac": "NP_001245352",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.22",
                    "type": "synonym"
                },
                {
                    "name": "SPMSY",
                    "type": "synonym"
                },
                {
                    "name": "Spermidine aminopropyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "spermidine aminopropyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "spermine synthase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMS",
                    "type": "recommended"
                },
                {
                    "name": "MRSR",
                    "type": "synonym"
                },
                {
                    "name": "MRXSSR",
                    "type": "synonym"
                },
                {
                    "name": "SMS",
                    "type": "synonym"
                },
                {
                    "name": "SPMSY",
                    "type": "synonym"
                },
                {
                    "name": "SRS",
                    "type": "synonym"
                },
                {
                    "name": "SpS",
                    "type": "synonym"
                }
            ],
            "record_id": "P52788-1",
            "evidence": [
                {
                    "id": "309583",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309583"
                },
                {
                    "id": "0060802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5YBN5-1",
            "uniprot_ac": "A0A8I5YBN5",
            "uniprot_id": "A0A8I5YBN5_RAT",
            "refseq_ac": "XP_038947336",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermine synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.22",
                    "type": "synonym"
                },
                {
                    "name": "Spermidine aminopropyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "spermine synthase-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smsl1",
                    "type": "recommended"
                },
                {
                    "name": "AABR07021734.1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1559938",
                    "type": "synonym"
                },
                {
                    "name": "Smsl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5YBN5-1",
            "evidence": [
                {
                    "id": "0060802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JGL7-1",
            "uniprot_ac": "X2JGL7",
            "uniprot_id": "X2JGL7_DROME",
            "refseq_ac": "NP_001287045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.5.1.22",
                    "type": "synonym"
                },
                {
                    "name": "CG4300-PD",
                    "type": "synonym"
                },
                {
                    "name": "Sms-PD",
                    "type": "synonym"
                },
                {
                    "name": "Spermine synthase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "spermine synthase, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sms",
                    "type": "recommended"
                },
                {
                    "name": "CG4300",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4300",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4300",
                    "type": "synonym"
                },
                {
                    "name": "Sms",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.387",
                    "type": "synonym"
                },
                {
                    "name": "dSms",
                    "type": "synonym"
                },
                {
                    "name": "sms",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JGL7-1",
            "evidence": [
                {
                    "id": "0060802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060802"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060802"
}