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    {
        "title": "Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.",
        "journal": "American journal of human genetics",
        "date": "2019",
        "authors": "Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM",
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                            "name": "hyperphosphatasia with impaired intellectual development syndrome",
                            "description": "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0070431",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070431",
                                "name": "HPMRS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070431",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070431",
                                "name": "Mabry disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070431",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070431",
                                "name": "Mabry syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070431",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070431",
                                "name": "hyperphosphatasia with mental retardation syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009398",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009398",
                                "name": "hyperphosphatasia with intellectual disability syndrome 1",
                                "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene."
                            },
                            {
                                "id": "MONDO:0009398",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009398",
                                "name": "PIGV hyperphosphatasia-intellectual disability syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009398",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009398",
                                "name": "hyperphosphatasia with intellectual disability syndrome 1",
                                "description": ""
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                            {
                                "id": "MONDO:0009398",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009398",
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                                "description": ""
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                            {
                                "id": "MONDO:0009398",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009398",
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                            {
                                "id": "MONDO:0009398",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009398",
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                                "description": ""
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                            },
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                            },
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                                "url": "https://www.omim.org/entry/239300",
                                "name": "Hyperphosphatasia with impaired intellectual development syndrome 1",
                                "description": "Hyperphosphatasia with impaired intellectual development syndrome 1"
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                            "url": "https://disease-ontology.org/term/DOID:0070433",
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                            {
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        "title": "A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.",
        "journal": "Nature genetics",
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        "authors": "Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko K I, Myllyl\u00e4 R",
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        "title": "Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).",
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        "authors": "Giunta Cecilia, Randolph Ann, Al-Gazali Lihadh I, Brunner Han G, Kraenzlin Marius E, Steinmann Beat",
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        "title": "A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.",
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        "authors": "Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN",
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    {
        "title": "Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen.",
        "journal": "The Biochemical journal",
        "date": "1985-09-01",
        "authors": "Royce P M, Barnes M J",
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        "title": "Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response.",
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