{
    "disease_id": "DOID:0070697",
    "recommended_name": {
        "id": "DOID:0070697",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070697",
        "name": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter",
        "description": "An autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower limbs with hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutations in the RPS6KC1 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0070697",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070697",
            "name": "NEDSCW",
            "description": ""
        },
        {
            "id": "MONDO:0980947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980947",
            "name": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070697"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070697",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070697",
            "categories": []
        },
        {
            "id": "MONDO:0980947",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980947",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96S38-1",
            "uniprot_ac": "Q96S38",
            "uniprot_id": "KS6C1_HUMAN",
            "refseq_ac": "NP_001129610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive ribosomal protein S6 kinase delta-1",
                    "type": "recommended"
                },
                {
                    "name": "52 kDa ribosomal protein S6 kinase",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal S6 kinase-like protein with two PSK domains",
                    "type": "synonym"
                },
                {
                    "name": "S6K-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "SPHK1-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine kinase 1-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase delta-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase delta-1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S6 kinase, 52kDa, polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS6KC1",
                    "type": "recommended"
                },
                {
                    "name": "NEDSCW",
                    "type": "synonym"
                },
                {
                    "name": "RPK118",
                    "type": "synonym"
                },
                {
                    "name": "RPS6KC1",
                    "type": "synonym"
                },
                {
                    "name": "RSKL1",
                    "type": "synonym"
                },
                {
                    "name": "S6K-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "S6PKh1",
                    "type": "synonym"
                },
                {
                    "name": "humS6PKh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96S38-1",
            "evidence": [
                {
                    "id": "621460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621460"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070697"
}