{
    "disease_id": "DOID:0111189",
    "recommended_name": {
        "id": "DOID:0111189",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111189",
        "name": "distal myopathy 3",
        "description": "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111189",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111189",
            "name": "MPD3",
            "description": ""
        },
        {
            "id": "DOID:0111189",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111189",
            "name": "distal myopathy type 3",
            "description": ""
        },
        {
            "id": "DOID:0111189",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111189",
            "name": "distal muscular dystrophy 3",
            "description": ""
        },
        {
            "id": "MONDO:0012410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012410",
            "name": "Finnish upper limb-onset distal myopathy",
            "description": "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common."
        },
        {
            "id": "MONDO:0012410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012410",
            "name": "MPD3",
            "description": ""
        },
        {
            "id": "MONDO:0012410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012410",
            "name": "distal myopathy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012410",
            "name": "myopathy, distal, 3",
            "description": ""
        },
        {
            "id": "MIM:610099",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610099",
            "name": "Myopathy, distal, 3",
            "description": "Myopathy, distal, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111189"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111189",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111189",
            "categories": []
        },
        {
            "id": "MONDO:0012410",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012410",
            "categories": []
        },
        {
            "id": "MIM:610099",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610099",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PGI6-1",
            "uniprot_ac": "A0A8M1PGI6",
            "uniprot_id": "A0A8M1PGI6_DANRE",
            "refseq_ac": "NP_956398",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1b",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1b",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnrnpa1b",
                    "type": "recommended"
                },
                {
                    "name": "hnrnpa1b",
                    "type": "synonym"
                },
                {
                    "name": "hnrnpa1",
                    "type": "synonym"
                },
                {
                    "name": "hnrpa1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PGI6-1",
            "evidence": [
                {
                    "id": "0111189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QHJ0-1",
            "uniprot_ac": "A0A8M9QHJ0",
            "uniprot_id": "A0A8M9QHJ0_DANRE",
            "refseq_ac": "NP_001428354",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1a isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnrnpa1a",
                    "type": "recommended"
                },
                {
                    "name": "hnrnpa1a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66127",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QHJ0-1",
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                {
                    "id": "0111189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49312-1",
            "uniprot_ac": "P49312",
            "uniprot_id": "ROA1_MOUSE",
            "refseq_ac": "NP_034577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
                },
                {
                    "name": "HDP-1",
                    "type": "synonym"
                },
                {
                    "name": "Helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "Single-strand-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase-inhibitor suppressed",
                    "type": "synonym"
                },
                {
                    "name": "helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1",
                    "type": "synonym"
                },
                {
                    "name": "single-strand-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase-inhibitor suppressed",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnrnpa1",
                    "type": "recommended"
                },
                {
                    "name": "Fli-2",
                    "type": "synonym"
                },
                {
                    "name": "HDP-1",
                    "type": "synonym"
                },
                {
                    "name": "Hdp",
                    "type": "synonym"
                },
                {
                    "name": "Hnrnpa1",
                    "type": "synonym"
                },
                {
                    "name": "Hnrpa1",
                    "type": "synonym"
                },
                {
                    "name": "Tis",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnrnp-A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49312-1",
            "evidence": [
                {
                    "id": "0111189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09651-1",
            "uniprot_ac": "P09651",
            "uniprot_id": "ROA1_HUMAN",
            "refseq_ac": "NP_002127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
                },
                {
                    "name": "Helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "Single-strand RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1B protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein B2 protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein core protein A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1-like 3",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear ribonucleoprotein particle A1 protein",
                    "type": "synonym"
                },
                {
                    "name": "putative heterogeneous nuclear ribonucleoprotein A1-like 3",
                    "type": "synonym"
                },
                {
                    "name": "single-strand DNA-binding protein UP1",
                    "type": "synonym"
                },
                {
                    "name": "single-strand RNA-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNRNPA1",
                    "type": "recommended"
                },
                {
                    "name": "ALS19",
                    "type": "synonym"
                },
                {
                    "name": "ALS20",
                    "type": "synonym"
                },
                {
                    "name": "HNRNPA1",
                    "type": "synonym"
                },
                {
                    "name": "HNRPA1L3",
                    "type": "synonym"
                },
                {
                    "name": "HNRPA1",
                    "type": "synonym"
                },
                {
                    "name": "IBMPFD3",
                    "type": "synonym"
                },
                {
                    "name": "MPD3",
                    "type": "synonym"
                },
                {
                    "name": "UP 1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP-A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09651-1",
            "evidence": [
                {
                    "id": "610099",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610099"
                },
                {
                    "id": "0111189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53883-1",
            "uniprot_ac": "P53883",
            "uniprot_id": "NOP13_YEAST",
            "refseq_ac": "NP_014224",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar protein 13",
                    "type": "recommended"
                },
                {
                    "name": "Nop13p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOP13",
                    "type": "recommended"
                },
                {
                    "name": "N1665",
                    "type": "synonym"
                },
                {
                    "name": "NOP13",
                    "type": "synonym"
                }
            ],
            "record_id": "P53883-1",
            "evidence": [
                {
                    "id": "0111189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111189"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04256-1",
            "uniprot_ac": "P04256",
            "uniprot_id": "ROA1_RAT",
            "refseq_ac": "NP_058944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
                },
                {
                    "name": "HDP",
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                },
                {
                    "name": "Helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "Single-strand RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "helix-destabilizing protein",
                    "type": "synonym"
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                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1 isoform 2",
                    "type": "synonym"
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                {
                    "name": "hnRNP A1",
                    "type": "synonym"
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                {
                    "name": "hnRNP core protein A1",
                    "type": "synonym"
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                {
                    "name": "single-strand RNA-binding protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hnrnpa1",
                    "type": "recommended"
                },
                {
                    "name": "Hnrnpa1",
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                },
                {
                    "name": "Hnrpa1",
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                {
                    "name": "hnRNP A1",
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            ],
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                {
                    "id": "0111189",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P07909-1",
            "uniprot_ac": "P07909",
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            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
                },
                {
                    "name": "CG9983-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hrb98DE-PB",
                    "type": "synonym"
                },
                {
                    "name": "PEN repeat clone P9",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein at 98DE, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "hnRNA-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1-A",
                    "type": "synonym"
                },
                {
                    "name": "s",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hrb98DE",
                    "type": "recommended"
                },
                {
                    "name": "B1",
                    "type": "synonym"
                },
                {
                    "name": "CG9983",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9983",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9983",
                    "type": "synonym"
                },
                {
                    "name": "E7Delta6",
                    "type": "synonym"
                },
                {
                    "name": "HDP(P9)",
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                {
                    "name": "HRB98DE/hrp38",
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                {
                    "name": "HRB98DE",
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                {
                    "name": "Hrb1",
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                {
                    "name": "Hrb98 de",
                    "type": "synonym"
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                {
                    "name": "Hrb98DE/Hrp38",
                    "type": "synonym"
                },
                {
                    "name": "Hrb98DE",
                    "type": "synonym"
                },
                {
                    "name": "Hrp38",
                    "type": "synonym"
                },
                {
                    "name": "Pen9",
                    "type": "synonym"
                },
                {
                    "name": "anon-E7Delta6",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A2/B1",
                    "type": "synonym"
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                {
                    "name": "hrb98 de",
                    "type": "synonym"
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                {
                    "name": "hrb98DE",
                    "type": "synonym"
                },
                {
                    "name": "hrb98de",
                    "type": "synonym"
                },
                {
                    "name": "hrp38",
                    "type": "synonym"
                },
                {
                    "name": "p9",
                    "type": "synonym"
                }
            ],
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                    "id": "0111189",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48810-1",
            "uniprot_ac": "P48810",
            "uniprot_id": "RB87F_DROME",
            "refseq_ac": "NP_001163602",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein 87F",
                    "type": "recommended"
                },
                {
                    "name": "CG12749-PC",
                    "type": "synonym"
                },
                {
                    "name": "HRP36.1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87F-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein P11",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein at 85CD",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein at 87F, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "hnRNA-binding protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hrb87F",
                    "type": "recommended"
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                {
                    "name": "A2",
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                },
                {
                    "name": "B1",
                    "type": "synonym"
                },
                {
                    "name": "CG12749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12749",
                    "type": "synonym"
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                {
                    "name": "HRB87F/hrp36",
                    "type": "synonym"
                },
                {
                    "name": "HRB87F",
                    "type": "synonym"
                },
                {
                    "name": "HRP36",
                    "type": "synonym"
                },
                {
                    "name": "Hrb2",
                    "type": "synonym"
                },
                {
                    "name": "Hrb85CD",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87Fa",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87F",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87f",
                    "type": "synonym"
                },
                {
                    "name": "Hrp36",
                    "type": "synonym"
                },
                {
                    "name": "P11/Hrb87F",
                    "type": "synonym"
                },
                {
                    "name": "P11",
                    "type": "synonym"
                },
                {
                    "name": "Q14",
                    "type": "synonym"
                },
                {
                    "name": "Q16",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A2/B1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP36",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA1/A2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA2/B1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA2",
                    "type": "synonym"
                },
                {
                    "name": "hrb87f",
                    "type": "synonym"
                },
                {
                    "name": "hrp36",
                    "type": "synonym"
                },
                {
                    "name": "p38",
                    "type": "synonym"
                }
            ],
            "record_id": "P48810-1",
            "evidence": [
                {
                    "id": "0111189",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111189"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111189"
}