{
    "disease_id": "DOID:0081382",
    "recommended_name": {
        "id": "DOID:0081382",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081382",
        "name": "amyotrophic lateral sclerosis type 28",
        "description": "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0957538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957538",
            "name": "amyotrophic lateral sclerosis 28",
            "description": ""
        },
        {
            "id": "MIM:620452",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620452",
            "name": "Amyotrophic lateral sclerosis 28",
            "description": "Amyotrophic lateral sclerosis 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081382"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081382",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081382",
            "categories": []
        },
        {
            "id": "MONDO:0957538",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957538",
            "categories": []
        },
        {
            "id": "MIM:620452",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620452",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BUJ9-1",
            "uniprot_ac": "Q8BUJ9",
            "uniprot_id": "LRP12_MOUSE",
            "refseq_ac": "NP_001333965",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 12",
                    "type": "recommended"
                },
                {
                    "name": "LRP-12",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp12",
                    "type": "recommended"
                },
                {
                    "name": "C820005L12Rik",
                    "type": "synonym"
                },
                {
                    "name": "LRP-12",
                    "type": "synonym"
                },
                {
                    "name": "Lrp12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BUJ9-1",
            "evidence": [
                {
                    "id": "0081382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y561-1",
            "uniprot_ac": "Q9Y561",
            "uniprot_id": "LRP12_HUMAN",
            "refseq_ac": "NP_001129175",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 12",
                    "type": "recommended"
                },
                {
                    "name": "LDLR-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "LRP-12",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of tumorigenicity 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of tumorigenicity 7 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP12",
                    "type": "recommended"
                },
                {
                    "name": "ALS28",
                    "type": "synonym"
                },
                {
                    "name": "LRP12",
                    "type": "synonym"
                },
                {
                    "name": "MIG13A",
                    "type": "synonym"
                },
                {
                    "name": "ST7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y561-1",
            "evidence": [
                {
                    "id": "620452",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620452"
                },
                {
                    "id": "0081382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCF7-1",
            "uniprot_ac": "D3ZCF7",
            "uniprot_id": "D3ZCF7_RAT",
            "refseq_ac": "NP_001128355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 12",
                    "type": "recommended"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein-related protein 12",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 12 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp12",
                    "type": "recommended"
                },
                {
                    "name": "Lrp12",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCF7-1",
            "evidence": [
                {
                    "id": "0081382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081382"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081382"
}