[
    {
        "title": "Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.",
        "journal": "American journal of human genetics",
        "date": "2010",
        "authors": "Tian J, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B",
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        "title": "Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.",
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        "title": "Dinucleotide repeat polymorphism at the human biglycan (BGN) locus.",
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        "title": "New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.",
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                        "disease_id": "DOID:0112150",
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        "title": "Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.",
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        "authors": "Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP",
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                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011759",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                            },
                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111389",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011760",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000001000000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P35475-1"
            },
            {
                "evidence": [
                    {
                        "id": "P35475",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35475"
                    },
                    {
                        "id": "rs121965029",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965029"
                    },
                    {
                        "id": "rs121965029",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121965029#frequency_tab"
                    },
                    {
                        "id": "rs121965029",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965029"
                    },
                    {
                        "id": "8213840",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8213840"
                    },
                    {
                        "id": "8664897",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8664897"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 89,
                "end_pos": 89,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "4",
                "chr_pos": "987916",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R89",
                "disease": [
                    {
                        "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:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12798",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12798"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
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                            {
                                "id": "607014",
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                            {
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                            {
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
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                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
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                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
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                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
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                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
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                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
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                                "id": "0011760",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
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                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
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                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
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                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
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                                "name": "MPSIH/S",
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                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
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                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
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                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
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                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
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        "title": "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.",
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                "end_pos": 295,
                "subjects_tested": "1773",
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        "title": "Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.",
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        "title": "Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver.",
        "journal": "The Biochemical journal",
        "date": "1996",
        "authors": "Modaressi S, Christ B, Bratke J, Zahn S, Heise T, Jungermann K",
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        "title": "Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.",
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    {
        "title": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.",
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        "authors": "Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E",
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            {
                "uniprot_canonical_ac": "P00558-1",
                "protein_name": "Phosphoglycerate kinase 1",
                "gene_name": "PGK1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P06744-1",
                "protein_name": "Glucose-6-phosphate isomerase",
                "gene_name": "GPI",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O43826-1",
                "protein_name": "Glucose-6-phosphate exchanger SLC37A4",
                "gene_name": "SLC37A4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NQR9-1",
                "protein_name": "Glucose-6-phosphatase 2",
                "gene_name": "G6PC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9BUM1-1",
                "protein_name": "Glucose-6-phosphatase 3",
                "gene_name": "G6PC3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P09467-1",
                "protein_name": "Fructose-1,6-bisphosphatase 1",
                "gene_name": "FBP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P11498-1",
                "protein_name": "Pyruvate carboxylase, mitochondrial",
                "gene_name": "PC",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P09104-1",
                "protein_name": "Gamma-enolase",
                "gene_name": "ENO2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P13929-1",
                "protein_name": "Beta-enolase",
                "gene_name": "ENO3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P06733-1",
                "protein_name": "Alpha-enolase",
                "gene_name": "ENO1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
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                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
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                ],
                "glycoeffect": [],
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                "sequence_mut": "null",
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                            {
                                "id": "MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                            {
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                            {
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                            {
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                                "id": "MONDO:0009288",
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                            {
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        "title": "Substrate specificity changes for human reticulocyte and epithelial 15-lipoxygenases reveal allosteric product regulation.",
        "journal": "Biochemistry",
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        "authors": "Wecksler AT, Kenyon V, Deschamps JD, Holman TR",
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        "abstract": "",
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