{
    "disease_id": "DOID:0060246",
    "recommended_name": {
        "id": "DOID:0060246",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060246",
        "name": "MASA syndrome",
        "description": "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range."
    },
    "synonyms": [
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "CRASH syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "Gareis-Mason syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "L1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "SPG1",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "X-linked corpus callosum agenesis",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "X-linked spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "hereditary spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "name": "X-linked complicated hereditary spastic paraplegia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "MASA syndrome",
            "description": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles."
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "Gareis-Mason syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "MASA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "masa syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "spastic paraplegia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "Clasped thumb and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "adducted thumb with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "mental retardation aphasia shuffling Gait adducted thumbs (MASA)",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "mental retardation, aphasia, shuffling Gait, and adducted thumbs",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "thumb congenital clasped with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "thumb congenital clasped with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "thumb, congenital Clasped, with mental retardation",
            "description": ""
        },
        {
            "id": "MIM:303350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/303350",
            "name": "MASA syndrome",
            "description": "MASA syndrome"
        }
    ],
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    "id_list": [
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    ],
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    "crossref": [
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            "id": "DOID:0060246",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060246",
            "categories": []
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        {
            "id": "MONDO:0010559",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "categories": []
        },
        {
            "id": "MIM:303350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/303350",
            "categories": []
        }
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            "uniprot_ac": "Q90478",
            "uniprot_id": "L1CA1_DANRE",
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                    "glygen_name": "Zebrafish",
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                    "name": "Neural cell adhesion molecule L1.1",
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                    "name": "N-CAM-L1.1",
                    "type": "synonym"
                },
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                    "name": "NCAM-L1.1",
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            ],
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                    "name": "l1camb",
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                },
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                    "name": "nadl1.1",
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                    "type": "synonym"
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                    "name": "l1cama",
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                    "name": "Neural cell adhesion molecule L1",
                    "type": "recommended"
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                {
                    "name": "neurofascin homolog (chicken) a isoform X1",
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                    "name": "nfasca",
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                    "name": "neural cell adhesion molecule L1-like protein isoform X1",
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                {
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                {
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                {
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                {
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                {
                    "name": "Transient receptor potential cation channel, subfamily M ortholog",
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                },
                {
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                {
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                {
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            ],
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                    "name": "CG30079",
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                {
                    "name": "CG34123",
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                {
                    "name": "CG34187",
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                {
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                    "name": "TrpM",
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                {
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                {
                    "name": "trpm",
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            ],
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            ],
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                {
                    "name": "neurofascin isoform 1 precursor",
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                {
                    "name": "L1 cell adhesion molecule 2",
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                {
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                {
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                {
                    "name": "Nr-CAM",
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                    "name": "hBravo",
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                {
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                {
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                    "id": "0060246",
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                {
                    "name": "Long transient receptor potential channel 3",
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                {
                    "name": "MLSN2",
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                {
                    "name": "Melastatin-2",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 3",
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                {
                    "name": "melastatin-2",
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                    "name": "LTRPC3",
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                    "name": "MLSN2",
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                {
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                {
                    "name": "Melastatin-1",
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                {
                    "name": "TRPM1-203 APA Isoform, Intron 10",
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                    "name": "TRPM1-203 APA Isoform, Intron 3",
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                    "name": "transient receptor potential cation channel subfamily M member 1 isoform 1",
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                    "name": "transient receptor potential melastatin family",
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                    "name": "TRPM1",
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                    "name": "Transient receptor potential cation channel subfamily M member 7",
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                    "name": "2.7.11.1",
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                {
                    "name": "LTRPC ion channel family member 7",
                    "type": "synonym"
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                {
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                    "name": "LTrpC7",
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                {
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                    "type": "synonym"
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                {
                    "name": "long transient receptor potential channel 7",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 7 isoform b",
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                {
                    "name": "transient receptor potential-phospholipase C-interacting kinase",
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                    "name": "TRPM7",
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                {
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                {
                    "name": "LTRPC7",
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                {
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                }
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060246"
}