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        "title": "Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.",
        "journal": "American journal of medical genetics. Part A",
        "date": "2014",
        "authors": "von Oettingen JE, Tan WH, Dauber A",
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                            "url": "https://disease-ontology.org/term/DOID:0080575",
                            "name": "Larsen-like syndrome B3GAT3 type",
                            "description": "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."
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                                "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome",
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                                "id": "DOID:0080575",
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                                "url": "https://disease-ontology.org/term/DOID:0080575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
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                                "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported."
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome",
                                "description": ""
                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "JDSCD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009511",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "Larsen syndrome, autosomal recessive",
                                "description": ""
                            },
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                                "id": "MIM:245600",
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                                "url": "https://www.omim.org/entry/245600",
                                "name": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects",
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    {
        "title": "Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.",
        "journal": "American journal of medical genetics. Part A",
        "date": "2016-05",
        "authors": "Yap Patrick, Liebelt Jan E, Amor David J, Moore Lynette, Savarirayan Ravi",
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                "name": "Homo sapiens",
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                "start_pos": 169,
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                "subjects_tested": "2053",
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                            "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."
                        },
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                                "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": ""
                            }
                        ],
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                            "DOID:3149",
                            "DOID:3451"
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                            "id": "DOID:0080575",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080575",
                            "name": "Larsen-like syndrome B3GAT3 type",
                            "description": "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."
                        },
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                            {
                                "id": "DOID:0080575",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080575",
                                "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080575",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080575",
                                "name": "Larsen-like syndrome, B3GAT3 type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009511",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "Larsen-like syndrome, B3GAT3 type",
                                "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported."
                            },
                            {
                                "id": "MONDO:0009511",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009511",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "JDSCD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009511",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009511",
                                "name": "Larsen syndrome, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MIM:245600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/245600",
                                "name": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects",
                                "description": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects"
                            }
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                                "url": "https://www.omim.org/entry/245600"
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                            {
                                "id": "B3GAT3",
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                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B3GAT3/#!details"
                            },
                            {
                                "id": "26229",
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                                "url": "https://glycosmos.org/glycogenes/show/26229#disease"
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                            {
                                "id": "0080575",
                                "database": "AGR",
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        "title": "B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.",
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        "authors": "Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Riviere JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D",
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        "title": "Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.",
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                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.",
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        "date": "1992",
        "authors": "Takahashi T, Desnick RJ, Takada G, Schuchman EH",
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    {
        "title": "Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.",
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        "date": "1997",
        "authors": "Pavlu H, Elleder M",
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            {
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        ]
    },
    {
        "title": "Phosphatidylserine in addition to phosphatidylethanolamine is an in vitro target of the mammalian Atg8 modifiers, LC3, GABARAP, and GATE-16.",
        "journal": "The Journal of biological chemistry",
        "date": "2006",
        "authors": "Sou YS, Tanida I, Komatsu M, Ueno T, Kominami E",
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            "type": "PubMed",
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            "url": "https://pubmed.ncbi.nlm.nih.gov/16303767"
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                "protein_name": "Ubiquitin-like modifier-activating enzyme ATG7",
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                "tax_name": "Human"
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        ],
        "species": [
            {
                "name": "Homo sapiens",
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                    {
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                ],
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                "glygen_name": "Human",
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        ],
        "record_id": "pubmed.16303767",
        "abstract": "",
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        "section_stats": [
            {
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        ]
    },
    {
        "title": "Heat shock factor 1 (HSF1) controls chemoresistance and autophagy through transcriptional regulation of autophagy-related protein 7 (ATG7).",
        "journal": "J. Biol. Chem.",
        "date": "2013",
        "authors": "Desai Shruti, Liu Zixing, Yao Jun, Patel Nishant, Chen Jieqing, Wu Yun, Ahn Erin Eun-Young, Fodstad Oystein, Tan Ming",
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                "tax_name": "Human"
            }
        ],
        "species": [
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
        "record_id": "pubmed.23386620",
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    {
        "title": "Identification and characterization of the linear region of ATG3 that interacts with ATG7 in higher eukaryotes.",
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        "date": "2015-07-31",
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                "tax_name": "Human"
            },
            {
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                "protein_name": "Ubiquitin-like-conjugating enzyme ATG3",
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                "tax_name": "Human"
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        ],
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                ],
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                "reference_species": "Homo sapiens [9606]"
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        ],
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                "end_pos": 243,
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                    {
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            {
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                "comment": "Strongly decreases affinity for the complex ATG12:ATG5:ATG16L1. Impairs interaction with the complex ATG12:ATG5:ATG16L1; when associated with A-156. Impairs phosphatidylethanolamine (PE)-conjugated ATG8-like proteins formation. Loss of phosphatidylethanolamine (PE)-conjugated ATG8-like proteins formation; when associated with A-156. Impairs interaction with ATG12:ATG5; when associated with A-156. Does not affect interaction with ATG7; when associated with A-156. Does not affect the formation of the ATG8-like protein:ATG3 intermediate complex; when associated with A-156. Affects modestly the ATG3-ATG7 interaction; when associated with A-156. Reduces the thioester-linkage formation with GABARAP; when associated with A-156.",
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                        "database": "PubMed",
                        "id": "26043688",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26043688"
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                    {
                        "database": "PubMed",
                        "id": "24191030",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/24191030"
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                ],
                "uniprot_canonical_ac": "Q9NT62-1"
            },
            {
                "start_pos": 160,
                "end_pos": 160,
                "sequence_org": "Y",
                "sequence_mut": "A",
                "comment": "Strongly decreases affinity for the complex ATG12:ATG5:ATG16L1. Affects modestly the ATG3-ATG7 interaction. Reduces the thioester-linkage formation with GABARAP.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q9NT62",
                        "url": "https://www.uniprot.org/uniprotkb/Q9NT62"
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                    {
                        "database": "PubMed",
                        "id": "26043688",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26043688"
                    },
                    {
                        "database": "PubMed",
                        "id": "24191030",
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            {
                "start_pos": 167,
                "end_pos": 167,
                "sequence_org": "E",
                "sequence_mut": "A",
                "comment": "Weakens the ATG3-ATG7 interaction. Reduces the thioester-linkage formation with GABARAP.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q9NT62",
                        "url": "https://www.uniprot.org/uniprotkb/Q9NT62"
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                        "database": "PubMed",
                        "id": "26043688",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26043688"
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                ],
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                "start_pos": 169,
                "end_pos": 169,
                "sequence_org": "D",
                "sequence_mut": "A",
                "comment": "Weakens the ATG3-ATG7 interaction. Severely reduces the thioester-linkage formation with GABARAP.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q9NT62",
                        "url": "https://www.uniprot.org/uniprotkb/Q9NT62"
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                    {
                        "database": "PubMed",
                        "id": "26043688",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26043688"
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                ],
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