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    {
        "title": "Fluorescence resonance energy transfer studies on the interaction between the lactate transporter MCT1 and CD147 provide information on the topology and stoichiometry of the complex in situ.",
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        "date": "2002",
        "authors": "Wilson MC, Meredith D, Halestrap AP",
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        "title": "Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?",
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                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "307000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/307000"
                            }
                        ]
                    },
                    {
                        "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": ""
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                                "id": "MONDO:0010559",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "id": "MONDO:0010559",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
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                                "name": "thumb, congenital Clasped, with mental retardation",
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                                "id": "MIM:303350",
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        "title": "Active site residues of cyclophilin A are crucial for its signaling activity via CD147.",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
                                "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "description": ""
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                            },
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010611",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                            {
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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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        "title": "The DNA sequence of the human X chromosome.",
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        "title": "Metabolic activation-related CD147-CD98 complex.",
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        "authors": "Xu D, Hemler ME",
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                            "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay",
                            "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "isolated cerebellar hypoplasia/agenesis",
                                "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures."
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Cerebellar Agenesis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Chiari 4 malformation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Chiari IV malformation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "congenital cerebellar Hypoplasia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "near total absence of cerebellum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "subtotal absence of cerebellum",
                                "description": ""
                            },
                            {
                                "id": "MIM:213000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/213000",
                                "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay",
                                "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0070339",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070339"
                            },
                            {
                                "id": "0070339",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070339"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "307000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/307000"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0060246",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060246"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2476",
                        "recommended_name": {
                            "id": "DOID:2476",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2476",
                            "name": "hereditary spastic paraplegia",
                            "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "French settlement disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "Strumpell-Lorrain disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "familial spastic paraplegia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "hereditary spastic paraparesis",
                                "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"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0110771"
                        ],
                        "evidence": [
                            {
                                "id": "2476",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2476"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.01.000.000",
                "uniprot_canonical_ac": "P32004-1"
            }
        ],
        "record_id": "pubmed.16650080",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
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                ],
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        "title": "The RGD integrin binding site in human L1-CAM is important for nuclear signaling.",
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        "authors": "Gast D, Riedle S, Kiefel H, Muerkoster SS, Schafer H, Schafer MK, Altevogt P",
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        "title": "X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.",
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                            },
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive",
                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                            "name": "MASA syndrome",
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                "uniprot_canonical_ac": "P04114-1",
                "protein_name": "Apolipoprotein B-100",
                "gene_name": "APOB",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P02751-15",
                "protein_name": "Fibronectin",
                "gene_name": "FN1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z6B7-1",
                "protein_name": "SLIT-ROBO Rho GTPase-activating protein 1",
                "gene_name": "SRGAP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O95445-1",
                "protein_name": "Apolipoprotein M",
                "gene_name": "APOM",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P15144-1",
                "protein_name": "Aminopeptidase N",
                "gene_name": "ANPEP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01008-1",
                "protein_name": "Antithrombin-III",
                "gene_name": "SERPINC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q92484-1",
                "protein_name": "Cyclic GMP-AMP phosphodiesterase SMPDL3A",
                "gene_name": "SMPDL3A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P10909-1",
                "protein_name": "Clusterin",
                "gene_name": "CLU",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q63HR2-1",
                "protein_name": "Tensin-2",
                "gene_name": "TNS2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UQP3-1",
                "protein_name": "Tenascin-N",
                "gene_name": "TNN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P06681-1",
                "protein_name": "Complement C2",
                "gene_name": "C2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q08722-1",
                "protein_name": "Leukocyte surface antigen CD47",
                "gene_name": "CD47",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01871-2",
                "protein_name": "Immunoglobulin heavy constant mu",
                "gene_name": "IGHM",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P02765-1",
                "protein_name": "Alpha-2-HS-glycoprotein",
                "gene_name": "AHSG",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P02679-1",
                "protein_name": "Fibrinogen gamma chain",
                "gene_name": "FGG",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9HCE0-1",
                "protein_name": "Ectopic P granules protein 5 homolog",
                "gene_name": "EPG5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9Y6R7-1",
                "protein_name": "IgGFc-binding protein",
                "gene_name": "FCGBP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P05160-1",
                "protein_name": "Coagulation factor XIII B chain",
                "gene_name": "F13B",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NFI4-1",
                "protein_name": "Putative protein FAM10A5",
                "gene_name": "ST13P5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q2WGJ9-1",
                "protein_name": "Fer-1-like protein 6",
                "gene_name": "FER1L6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P24394-1",
                "protein_name": "Interleukin-4 receptor subunit alpha",
                "gene_name": "IL4R",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P29622-1",
                "protein_name": "Kallistatin",
                "gene_name": "SERPINA4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q13201-1",
                "protein_name": "Multimerin-1",
                "gene_name": "MMRN1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8IVL0-1",
                "protein_name": "Neuron navigator 3",
                "gene_name": "NAV3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P54289-1",
                "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-1",
                "gene_name": "CACNA2D1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q07108-1",
                "protein_name": "Early activation antigen CD69",
                "gene_name": "CD69",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5IJ48-1",
                "protein_name": "Protein crumbs homolog 2",
                "gene_name": "CRB2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96KN2-1",
                "protein_name": "Beta-Ala-His dipeptidase",
                "gene_name": "CNDP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q99650-1",
                "protein_name": "Oncostatin-M-specific receptor subunit beta",
                "gene_name": "OSMR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q12980-1",
                "protein_name": "GATOR1 complex protein NPRL3",
                "gene_name": "NPRL3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P28827-1",
                "protein_name": "Receptor-type tyrosine-protein phosphatase mu",
                "gene_name": "PTPRM",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BZA7-1",
                "protein_name": "Protocadherin-11 X-linked",
                "gene_name": "PCDH11X",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8WUM9-1",
                "protein_name": "Sodium-dependent phosphate transporter 1",
                "gene_name": "SLC20A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P08603-1",
                "protein_name": "Complement factor H",
                "gene_name": "CFH",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6EMK4-1",
                "protein_name": "Vasorin",
                "gene_name": "VASN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P16112-1",
                "protein_name": "Aggrecan core protein",
                "gene_name": "ACAN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O00533-1",
                "protein_name": "Neural cell adhesion molecule L1-like protein",
                "gene_name": "CHL1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96PD5-1",
                "protein_name": "N-acetylmuramoyl-L-alanine amidase",
                "gene_name": "PGLYRP2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q16620-1",
                "protein_name": "BDNF/NT-3 growth factors receptor",
                "gene_name": "NTRK2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P80108-1",
                "protein_name": "Phosphatidylinositol-glycan-specific phospholipase D",
                "gene_name": "GPLD1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BY07-1",
                "protein_name": "Electrogenic sodium bicarbonate cotransporter 4",
                "gene_name": "SLC4A5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9P2N2-1",
                "protein_name": "Rho GTPase-activating protein 28",
                "gene_name": "ARHGAP28",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8TE54-1",
                "protein_name": "Anion exchange transporter",
                "gene_name": "SLC26A7",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P50120-1",
                "protein_name": "Retinol-binding protein 2",
                "gene_name": "RBP2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q13972-1",
                "protein_name": "Ras-specific guanine nucleotide-releasing factor 1",
                "gene_name": "RASGRF1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35542-1",
                "protein_name": "Serum amyloid A-4 protein",
                "gene_name": "SAA4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P04278-1",
                "protein_name": "Sex hormone-binding globulin",
                "gene_name": "SHBG",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O43166-1",
                "protein_name": "Signal-induced proliferation-associated 1-like protein 1",
                "gene_name": "SIPA1L1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q99835-1",
                "protein_name": "Protein smoothened",
                "gene_name": "SMO",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P05156-1",
                "protein_name": "Complement factor I",
                "gene_name": "CFI",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q99784-1",
                "protein_name": "Noelin",
                "gene_name": "OLFM1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P17936-1",
                "protein_name": "Insulin-like growth factor-binding protein 3",
                "gene_name": "IGFBP3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P49747-1",
                "protein_name": "Cartilage oligomeric matrix protein",
                "gene_name": "COMP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P04275-1",
                "protein_name": "von Willebrand factor",
                "gene_name": "VWF",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P17405-1",
                "protein_name": "Sphingomyelin phosphodiesterase",
                "gene_name": "SMPD1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86TH1-1",
                "protein_name": "ADAMTS-like protein 2",
                "gene_name": "ADAMTSL2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75882-1",
                "protein_name": "Attractin",
                "gene_name": "ATRN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P00736-1",
                "protein_name": "Complement C1r subcomponent",
                "gene_name": "C1R",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P09871-1",
                "protein_name": "Complement C1s subcomponent",
                "gene_name": "C1S",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P04003-1",
                "protein_name": "C4b-binding protein alpha chain",
                "gene_name": "C4BPA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P20851-1",
                "protein_name": "C4b-binding protein beta chain",
                "gene_name": "C4BPB",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P07996-1",
                "protein_name": "Thrombospondin-1",
                "gene_name": "THBS1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P61201-1",
                "protein_name": "COP9 signalosome complex subunit 2",
                "gene_name": "COPS2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P48551-1",
                "protein_name": "Interferon alpha/beta receptor 2",
                "gene_name": "IFNAR2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96IY4-1",
                "protein_name": "Carboxypeptidase B2",
                "gene_name": "CPB2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P08185-1",
                "protein_name": "Corticosteroid-binding globulin",
                "gene_name": "SERPINA6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P00450-1",
                "protein_name": "Ceruloplasmin",
                "gene_name": "CP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P23471-1",
                "protein_name": "Receptor-type tyrosine-protein phosphatase zeta",
                "gene_name": "PTPRZ1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P23435-1",
                "protein_name": "Cerebellin-1",
                "gene_name": "CBLN1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P0C0L5-1",
                "protein_name": "Complement C4-B",
                "gene_name": "C4B_2; C4B",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8IWV2-1",
                "protein_name": "Contactin-4",
                "gene_name": "CNTN4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P0C0L4-1",
                "protein_name": "Complement C4-A",
                "gene_name": "C4A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01031-1",
                "protein_name": "Complement C5",
                "gene_name": "C5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P02748-1",
                "protein_name": "Complement component C9",
                "gene_name": "C9",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P07357-1",
                "protein_name": "Complement component C8 alpha chain",
                "gene_name": "C8A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P16284-1",
                "protein_name": "Platelet endothelial cell adhesion molecule",
                "gene_name": "PECAM1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9UJU2-1",
                "protein_name": "Lymphoid enhancer-binding factor 1",
                "gene_name": "LEF1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P03952-1",
                "protein_name": "Plasma kallikrein",
                "gene_name": "KLKB1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P11279-1",
                "protein_name": "Lysosome-associated membrane glycoprotein 1",
                "gene_name": "LAMP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P11047-1",
                "protein_name": "Laminin subunit gamma-1",
                "gene_name": "LAMC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P19823-1",
                "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H2",
                "gene_name": "ITIH2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P05154-1",
                "protein_name": "Plasma serine protease inhibitor",
                "gene_name": "SERPINA5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q92628-1",
                "protein_name": "Uncharacterized protein KIAA0232",
                "gene_name": "KIAA0232",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01833-1",
                "protein_name": "Polymeric immunoglobulin receptor",
                "gene_name": "PIGR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P27169-1",
                "protein_name": "Serum paraoxonase/arylesterase 1",
                "gene_name": "PON1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6ZMI0-1",
                "protein_name": "Protein phosphatase 1 regulatory subunit 21",
                "gene_name": "PPP1R21",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P05155-1",
                "protein_name": "Plasma protease C1 inhibitor",
                "gene_name": "SERPING1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P22792-1",
                "protein_name": "Carboxypeptidase N subunit 2",
                "gene_name": "CPN2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P08575-3",
                "protein_name": "Receptor-type tyrosine-protein phosphatase C",
                "gene_name": "PTPRC",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75636-1",
                "protein_name": "Ficolin-3",
                "gene_name": "FCN3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O60353-1",
                "protein_name": "Frizzled-6",
                "gene_name": "FZD6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P17858-1",
                "protein_name": "ATP-dependent 6-phosphofructokinase, liver type",
                "gene_name": "PFKL",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O94925-1",
                "protein_name": "Glutaminase kidney isoform, mitochondrial",
                "gene_name": "GLS",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N3X6-1",
                "protein_name": "Ligand-dependent nuclear receptor corepressor-like protein",
                "gene_name": "LCORL",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q08380-1",
                "protein_name": "Galectin-3-binding protein",
                "gene_name": "LGALS3BP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01860-2",
                "protein_name": "Immunoglobulin heavy constant gamma 3",
                "gene_name": "IGHG3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01861-2",
                "protein_name": "Immunoglobulin heavy constant gamma 4",
                "gene_name": "IGHG4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01876-2",
                "protein_name": "Immunoglobulin heavy constant alpha 1",
                "gene_name": "IGHA1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8TDY8-1",
                "protein_name": "Immunoglobulin superfamily DCC subclass member 4",
                "gene_name": "IGDCC4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P13473-1",
                "protein_name": "Lysosome-associated membrane glycoprotein 2",
                "gene_name": "LAMP2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P48740-1",
                "protein_name": "Mannan-binding lectin serine protease 1",
                "gene_name": "MASP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q17RP2-1",
                "protein_name": "Tigger transposable element-derived protein 6",
                "gene_name": "TIGD6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q06889-1",
                "protein_name": "Early growth response protein 3",
                "gene_name": "EGR3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P03951-1",
                "protein_name": "Coagulation factor XI",
                "gene_name": "F11",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P19652-1",
                "protein_name": "Alpha-1-acid glycoprotein 2",
                "gene_name": "ORM2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P11362-1",
                "protein_name": "Fibroblast growth factor receptor 1",
                "gene_name": "FGFR1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O60242-1",
                "protein_name": "Adhesion G protein-coupled receptor B3",
                "gene_name": "ADGRB3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P02750-1",
                "protein_name": "Leucine-rich alpha-2-glycoprotein",
                "gene_name": "LRG1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8IUX7-1",
                "protein_name": "Adipocyte enhancer-binding protein 1",
                "gene_name": "AEBP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8IZF2-1",
                "protein_name": "Adhesion G protein-coupled receptor F5",
                "gene_name": "ADGRF5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P15884-1",
                "protein_name": "Transcription factor 4",
                "gene_name": "TCF4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P05090-1",
                "protein_name": "Apolipoprotein D",
                "gene_name": "APOD",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9HDC9-1",
                "protein_name": "Adipocyte plasma membrane-associated protein",
                "gene_name": "APMAP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P02749-1",
                "protein_name": "Beta-2-glycoprotein 1",
                "gene_name": "APOH",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P55056-1",
                "protein_name": "Apolipoprotein C-IV",
                "gene_name": "APOC4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P00747-1",
                "protein_name": "Plasminogen",
                "gene_name": "PLG",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q03164-1",
                "protein_name": "Histone-lysine N-methyltransferase 2A",
                "gene_name": "KMT2A",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P00738-1",
                "protein_name": "Haptoglobin",
                "gene_name": "HP",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O43734-1",
                "protein_name": "E3 ubiquitin ligase TRAF3IP2",
                "gene_name": "TRAF3IP2",
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            },
            {
                "uniprot_canonical_ac": "Q9NTJ3-1",
                "protein_name": "Structural maintenance of chromosomes protein 4",
                "gene_name": "SMC4",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "P56856-1",
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                "gene_name": "CLDN18",
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                "uniprot_canonical_ac": "P10643-1",
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                "uniprot_canonical_ac": "Q9UP83-2",
                "protein_name": "Conserved oligomeric Golgi complex subunit 5",
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            },
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                "uniprot_canonical_ac": "P07358-1",
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                "uniprot_canonical_ac": "Q70UQ0-1",
                "protein_name": "Inhibitor of nuclear factor kappa-B kinase-interacting protein",
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                "site_lbl": "I179",
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                            "name": "X-linked congenital hydrocephalus",
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                                "id": "DOID:0070686",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070686",
                                "name": "X-linked hydrocephalus",
                                "description": ""
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                            {
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                                "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": ""
                            },
                            {
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                                "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "307000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/307000"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0060246",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060246"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2476",
                        "recommended_name": {
                            "id": "DOID:2476",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2476",
                            "name": "hereditary spastic paraplegia",
                            "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs."
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                        "synonyms": [
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "French settlement disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "Strumpell-Lorrain disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "familial spastic paraplegia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "hereditary spastic paraparesis",
                                "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"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0110771"
                        ],
                        "evidence": [
                            {
                                "id": "2476",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2476"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000100000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P32004-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs137852524",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852524"
                    },
                    {
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                        "url": "https://www.ensembl.org/id/rs137852524"
                    },
                    {
                        "id": "7562969",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7562969"
                    },
                    {
                        "id": "8062435",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8062435"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 370,
                "end_pos": 370,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.",
                "chr_id": "X",
                "chr_pos": "153869818",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G370",
                "disease": [
                    {
                        "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "307000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/307000"
                            }
                        ]
                    },
                    {
                        "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",
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                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.",
        "journal": "Human molecular genetics",
        "date": "1994",
        "authors": "Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ",
        "reference": {
            "type": "PubMed",
            "id": "7881431",
            "url": "https://pubmed.ncbi.nlm.nih.gov/7881431"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P32004-1",
                "protein_name": "Neural cell adhesion molecule L1",
                "gene_name": "L1CAM",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P32004",
                        "url": "https://www.uniprot.org/uniprotkb/P32004"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "P32004",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32004"
                    },
                    {
                        "id": "rs137852522",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852522"
                    },
                    {
                        "id": "rs137852522",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs137852522"
                    },
                    {
                        "id": "7881431",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7881431"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 1194,
                "end_pos": 1194,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).",
                "chr_id": "23",
                "chr_pos": "153862856",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "S1194",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
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                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "307000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/307000"
                            }
                        ]
                    },
                    {
                        "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."
                        },
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                            {
                                "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0060246",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060246"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2476",
                        "recommended_name": {
                            "id": "DOID:2476",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2476",
                            "name": "hereditary spastic paraplegia",
                            "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "French settlement disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "Strumpell-Lorrain disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "familial spastic paraplegia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "hereditary spastic paraparesis",
                                "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"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0110771"
                        ],
                        "evidence": [
                            {
                                "id": "2476",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2476"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ],
                "filter_code": "000000000000000100000.00000000000000.000000000001000000.00011.11.000.001",
                "uniprot_canonical_ac": "P32004-1"
            }
        ],
        "record_id": "pubmed.7881431",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
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    {
        "title": "X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.",
        "journal": "Nature genetics",
        "date": "1994",
        "authors": "Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S",
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                        "id": "7920659",
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                ],
                "glycoeffect": [],
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                "end_pos": 1164,
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                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.",
                "chr_id": "X",
                "chr_pos": "153863517_153863518",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E1164",
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                    {
                        "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."
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                            {
                                "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": ""
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                            {
                                "id": "DOID:0060246",
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                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                                "description": ""
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                            {
                                "id": "DOID:0060246",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060246",
                                "name": "X-linked corpus callosum agenesis",
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                            {
                                "id": "DOID:0060246",
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                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                            {
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                                "id": "DOID:0060246",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "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",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "description": ""
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                            {
                                "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)",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "mental retardation aphasia shuffling Gait adducted thumbs (MASA)",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "mental retardation, aphasia, shuffling Gait, and adducted thumbs",
                                "description": ""
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "description": ""
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                                "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": ""
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                                "id": "MIM:303350",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/303350",
                                "name": "MASA syndrome",
                                "description": "MASA syndrome"
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                            "url": "https://disease-ontology.org/term/DOID:2476",
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                                "name": "Strumpell-Lorrain disease",
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                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "familial spastic paraplegia",
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                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "hereditary spastic paraparesis",
                                "description": ""
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                            {
                                "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."
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "Gareis-Mason syndrome",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "MASA syndrome",
                                "description": ""
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                            {
                                "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": ""
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                            {
                                "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": ""
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                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "adducted thumb with mental retardation",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)",
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                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "mental retardation aphasia shuffling Gait adducted thumbs (MASA)",
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                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "spastic paraplegia 1",
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                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "thumb congenital clasped with intellectual disability",
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                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "thumb congenital clasped with mental retardation",
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                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "id": "MIM:303350",
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                                "url": "https://www.omim.org/entry/303350",
                                "name": "MASA syndrome",
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                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.",
                "chr_id": "X",
                "chr_pos": "153870933",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R184",
                "disease": [
                    {
                        "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."
                        },
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                                "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",
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                            },
                            {
                                "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",
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                            {
                                "id": "MONDO:0010611",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                                "id": "MIM:307000",
                                "resource": "MIM",
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                                "name": "Hydrocephalus, congenital, X-linked",
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                            "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."
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                                "id": "DOID:0060246",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                            {
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                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                            {
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                            {
                                "id": "DOID:0060246",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                                "id": "DOID:0060246",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                            {
                                "id": "DOID:0060246",
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                                "url": "https://disease-ontology.org/term/DOID:0060246",
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                            {
                                "id": "DOID:0060246",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
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                                "id": "MONDO:0010559",
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                                "id": "MONDO:0010559",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            },
                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "description": ""
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "id": "MONDO:0010559",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "id": "MONDO:0010559",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10534",
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                                "resource": "Disease Ontology",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca lesser curvature - stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "cancer of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "stomach cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca body - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613659",
                                "name": "Gastric cancer",
                                "description": "Gastric cancer"
                            }
                        ],
                        "unlinked_id_list": [],
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                                "id": "10534",
                                "database": "AGR",
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                            },
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            }
                        ]
                    },
                    {
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
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                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
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                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
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                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of the middle Third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "oesophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    },
                    {
                        "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",
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        "title": "MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.",
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        "authors": "Vits L, Van Camp G, Coucke P, Fransen E, De Boulle K, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, et al.",
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    {
        "title": "Clinical aspects of the MASA syndrome in a large family, including expressing females.",
        "journal": "Clinical genetics",
        "date": "1994-04",
        "authors": "Kaepernick L, Legius E, Higgins J, Kapur S",
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                "chr_pos": "153869818",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                            {
                                "id": "MONDO:0010611",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
                                "name": "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
                                "name": "masa syndrome, X-linked recessive",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                            {
                                "id": "MONDO:0010559",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010559",
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                                "name": "MASA syndrome",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2476",
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                                "resource": "Disease Ontology",
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                                "name": "Strumpell-Lorrain disease",
                                "description": ""
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                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "familial spastic paraplegia",
                                "description": ""
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                            {
                                "id": "DOID:2476",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2476",
                                "name": "hereditary spastic paraparesis",
                                "description": ""
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                            {
                                "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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                                "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."
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
                                "name": "HSAS",
                                "description": ""
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                                "id": "MONDO:0010611",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
                                "name": "X-linked HSAS",
                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010611",
                                "name": "X-linked acqueductal stenosis",
                                "description": ""
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            "url": "https://pubmed.ncbi.nlm.nih.gov/8929944"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P32004-1",
                "protein_name": "Neural cell adhesion molecule L1",
                "gene_name": "L1CAM",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P32004",
                        "url": "https://www.uniprot.org/uniprotkb/P32004"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "P32004",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P32004"
                    },
                    {
                        "id": "rs137852526",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852526"
                    },
                    {
                        "id": "rs137852526",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs137852526"
                    },
                    {
                        "id": "16650080",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/16650080"
                    },
                    {
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                    },
                    {
                        "id": "rs137852526",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs137852526"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 240,
                "end_pos": 240,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, lectin/i-type/non-siglec).",
                "chr_id": "23",
                "chr_pos": "153870475",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P240",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0070339",
                        "recommended_name": {
                            "id": "DOID:0070339",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0070339",
                            "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay",
                            "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "isolated cerebellar hypoplasia/agenesis",
                                "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures."
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Cerebellar Agenesis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Chiari 4 malformation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Chiari IV malformation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "congenital cerebellar Hypoplasia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "near total absence of cerebellum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "subtotal absence of cerebellum",
                                "description": ""
                            },
                            {
                                "id": "MIM:213000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/213000",
                                "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay",
                                "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0070339",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070339"
                            },
                            {
                                "id": "0070339",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070339"
                            }
                        ]
                    },
                    {
                        "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "307000",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/307000"
                            }
                        ]
                    },
                    {
                        "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": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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