{
    "disease_id": "DOID:0070686",
    "recommended_name": {
        "id": "DOID:0070686",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070686",
        "name": "X-linked congenital hydrocephalus",
        "description": "A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development."
    },
    "synonyms": [
        {
            "id": "DOID:0070686",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070686",
            "name": "X-linked hydrocephalus",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",
            "description": "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis."
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "Bickers-Adams syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "HSAS",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "X-linked HSAS",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "X-linked acqueductal stenosis",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "X-linked hydrocephalus",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "X-linked hydrocephalus with stenosis of aqueduct of Sylvius",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "hydrocephalus due to aqueductal stenosis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "hydrocephalus with hirschsprung disease, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "hydrocephalus with stenosis of the aqueduct of Sylvius",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "HSAS1",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "HYCX",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "XLAS",
            "description": ""
        },
        {
            "id": "MONDO:0010611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "name": "hydrocephalus due to congenital stenosis of aqueduct of Sylvius",
            "description": ""
        },
        {
            "id": "MIM:307000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/307000",
            "name": "Hydrocephalus, congenital, X-linked",
            "description": "Hydrocephalus, congenital, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070686"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070686",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070686",
            "categories": []
        },
        {
            "id": "MONDO:0010611",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010611",
            "categories": []
        },
        {
            "id": "MIM:307000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/307000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P32004-1",
            "uniprot_ac": "P32004",
            "uniprot_id": "L1CAM_HUMAN",
            "refseq_ac": "NP_000416",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neural cell adhesion molecule L1",
                    "type": "recommended"
                },
                {
                    "name": "N-CAM-L1",
                    "type": "synonym"
                },
                {
                    "name": "NCAM-L1",
                    "type": "synonym"
                },
                {
                    "name": "antigen identified by monoclonal antibody R1",
                    "type": "synonym"
                },
                {
                    "name": "neural cell adhesion molecule L1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neural cell adhesion molecule L1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L1CAM",
                    "type": "recommended"
                },
                {
                    "name": "CAML1",
                    "type": "synonym"
                },
                {
                    "name": "CD171",
                    "type": "synonym"
                },
                {
                    "name": "HSAS1",
                    "type": "synonym"
                },
                {
                    "name": "HSAS",
                    "type": "synonym"
                },
                {
                    "name": "HYCX",
                    "type": "synonym"
                },
                {
                    "name": "L1CAM",
                    "type": "synonym"
                },
                {
                    "name": "MASA",
                    "type": "synonym"
                },
                {
                    "name": "MIC5",
                    "type": "synonym"
                },
                {
                    "name": "N-CAM-L1",
                    "type": "synonym"
                },
                {
                    "name": "N-CAML1",
                    "type": "synonym"
                },
                {
                    "name": "NCAM-L1",
                    "type": "synonym"
                },
                {
                    "name": "S10",
                    "type": "synonym"
                },
                {
                    "name": "SPG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32004-1",
            "evidence": [
                {
                    "id": "307000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/307000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070686"
}