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        "title": "Unveiling the role of PYGB in pancreatic cancer: a novel diagnostic biomarker and gene therapy target.",
        "journal": "Journal of cancer research and clinical oncology",
        "date": "2024-03-14",
        "authors": "Ren Li-Kun, Lu Ri-Shang, Fei Xiao-Bin, Chen Shao-Jie, Liu Peng, Zhu Chang-Hao, Wang Xing, Pan Yao-Zhen",
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    {
        "title": "A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.",
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        "authors": "Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M",
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                                "url": "https://www.omim.org/entry/114480",
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                                "description": "Breast cancer"
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                            "url": "https://disease-ontology.org/term/DOID:0050807",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0050807",
                                "name": "intellectual disability-cataract-coloboma-kyphosis syndrome",
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                                "id": "DOID:0050807",
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                            {
                                "id": "DOID:0050807",
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                                "name": "intellectual disability, Kahrizi type",
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                            {
                                "id": "MONDO:0012991",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012991",
                                "name": "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive",
                                "description": ""
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                                "description": "Kahrizi syndrome"
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                            {
                                "id": "0050807",
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                            "resource": "Disease Ontology",
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                            "name": "congenital disorder of glycosylation Iq",
                            "description": "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12."
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                                "name": "congenital disorder of glycosylation 1q",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "SRD5A3-congenital disorder of glycosylation",
                                "description": "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation."
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "CDG syndrome type Iq",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "CDG1Q",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "SRD5A3-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "SRD5A3-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "congenital disorder of glycosylation type 1q",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "congenital disorder of glycosylation type Iq",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "CDGIq",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "SRD5A3-CDG (CDG-Iq)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012885",
                                "name": "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012885",
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