{
    "disease_id": "DOID:0060802",
    "recommended_name": {
        "id": "DOID:0060802",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0060802",
            "name": "SRS",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060802",
            "name": "Snyder-Robinson mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060802",
            "name": "Snyder-Robinson syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060802",
            "name": "mental retardation, X-linked, Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "DOID:0060802",
            "resource": "Disease Ontology",
            "url": "http://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": "MRXSSR",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "X-linked intellectual disability, Snyder type",
            "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": "spermine synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "mental retardation, X-linked, syndromic, Snyder-Robinson type",
            "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": "X-linked mental retardation Snyder-Robinson type",
            "description": ""
        },
        {
            "id": "MONDO:0010664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010664",
            "name": "mental retardation, X-linked, 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; MRXSSR",
            "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"
        }
    ]
}