{
    "disease_id": "DOID:0090105",
    "recommended_name": {
        "id": "DOID:0090105",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090105",
        "name": "autosomal recessive hypercholesterolemia",
        "description": "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "ARH",
            "description": ""
        },
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "ARH1",
            "description": ""
        },
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "ARH2",
            "description": ""
        },
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "FHCB1",
            "description": ""
        },
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "FHCB2",
            "description": ""
        },
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "autosomal recessive hypercholesterolemia 1",
            "description": ""
        },
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "autosomal recessive hypercholesterolemia 2",
            "description": ""
        },
        {
            "id": "DOID:0090105",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "name": "familial autosomal recessive hypercholesterolemia",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "hypercholesterolemia, familial, 4",
            "description": "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia."
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "ARH",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "ARH1",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "ARH2",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "autosomal recessive hypercholesterolemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "autosomal recessive hypercholesterolemia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "FHCB1",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "FHCB2",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "hypercholesterolemia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "hypercholesterolemia, autosomal recessive, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "name": "hypercholesterolemia, autosomal recessive, 2",
            "description": ""
        },
        {
            "id": "MIM:603813",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603813",
            "name": "Hypercholesterolemia, familial, 4",
            "description": "Hypercholesterolemia, familial, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090105"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090105",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090105",
            "categories": []
        },
        {
            "id": "MONDO:0011374",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011374",
            "categories": []
        },
        {
            "id": "MIM:603813",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603813",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C142-1",
            "uniprot_ac": "Q8C142",
            "uniprot_id": "ARH_MOUSE",
            "refseq_ac": "NP_663529",
            "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 adapter protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Autosomal recessive hypercholesterolemia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor adaptor protein",
                    "type": "synonym"
                },
                {
                    "name": "autosomal recessive hypercholesterolemia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor adapter protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ldlrap1",
                    "type": "recommended"
                },
                {
                    "name": "ARH2",
                    "type": "synonym"
                },
                {
                    "name": "Arh1",
                    "type": "synonym"
                },
                {
                    "name": "Arh",
                    "type": "synonym"
                },
                {
                    "name": "FHCB1",
                    "type": "synonym"
                },
                {
                    "name": "FHCB2",
                    "type": "synonym"
                },
                {
                    "name": "Ldlrap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C142-1",
            "evidence": [
                {
                    "id": "0090105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SW96-1",
            "uniprot_ac": "Q5SW96",
            "uniprot_id": "ARH_HUMAN",
            "refseq_ac": "NP_056442",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low density lipoprotein receptor adapter protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Autosomal recessive hypercholesterolemia protein",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor adaptor protein",
                    "type": "synonym"
                },
                {
                    "name": "autosomal recessive hypercholesterolemia protein",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor adapter protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LDLRAP1",
                    "type": "recommended"
                },
                {
                    "name": "ARH1",
                    "type": "synonym"
                },
                {
                    "name": "ARH2",
                    "type": "synonym"
                },
                {
                    "name": "ARH",
                    "type": "synonym"
                },
                {
                    "name": "FHCB1",
                    "type": "synonym"
                },
                {
                    "name": "FHCB2",
                    "type": "synonym"
                },
                {
                    "name": "FHCL4",
                    "type": "synonym"
                },
                {
                    "name": "LDLRAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SW96-1",
            "evidence": [
                {
                    "id": "603813",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603813"
                },
                {
                    "id": "0090105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090105"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZAR1-1",
            "uniprot_ac": "D3ZAR1",
            "uniprot_id": "ARH_RAT",
            "refseq_ac": "",
            "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 adapter protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Autosomal recessive hypercholesterolemia protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ldlrap1",
                    "type": "recommended"
                },
                {
                    "name": "Arh",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZAR1-1",
            "evidence": [
                {
                    "id": "0090105",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090105"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090105"
}