{
    "disease_id": "DOID:0070150",
    "recommended_name": {
        "id": "DOID:0070150",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070150",
        "name": "hereditary sensory and autonomic neuropathy type 2B",
        "description": "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15."
    },
    "synonyms": [
        {
            "id": "DOID:0070150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070150",
            "name": "hereditary sensory and autonomic neuropathy type IIB",
            "description": ""
        },
        {
            "id": "DOID:0070150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070150",
            "name": "HSAN2B",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "neuropathy, hereditary sensory and autonomic, type 2B",
            "description": "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene."
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "HSAN2B",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "RETREG1 hereditary sensory and autonomic neuropathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "neuropathy, hereditary sensory and autonomic, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "neuropathy, hereditary sensory and autonomic, type IIB",
            "description": ""
        },
        {
            "id": "MIM:613115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613115",
            "name": "Neuropathy, hereditary sensory and autonomic, 2B",
            "description": "Neuropathy, hereditary sensory and autonomic, 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070150"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070150",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070150",
            "categories": []
        },
        {
            "id": "MONDO:0013142",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "categories": []
        },
        {
            "id": "MIM:613115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613115",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1Q245-1",
            "uniprot_ac": "A0A8M1Q245",
            "uniprot_id": "A0A8M1Q245_DANRE",
            "refseq_ac": "XP_001343062",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reticulophagy regulator 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy regulator 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "retreg1",
                    "type": "recommended"
                },
                {
                    "name": "retreg1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1Q245-1",
            "evidence": [
                {
                    "id": "0070150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VE91-4",
            "uniprot_ac": "Q8VE91",
            "uniprot_id": "RETR1_MOUSE",
            "refseq_ac": "NP_001030023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reticulophagy regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "Reticulophagy receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 134, member B",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM134B",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy receptor Fam134b",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy regulator 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Retreg1",
                    "type": "recommended"
                },
                {
                    "name": "1810015C04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fam134b",
                    "type": "synonym"
                },
                {
                    "name": "Retreg1d",
                    "type": "synonym"
                },
                {
                    "name": "Retreg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VE91-4",
            "evidence": [
                {
                    "id": "0070150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H6L5-1",
            "uniprot_ac": "Q9H6L5",
            "uniprot_id": "RETR1_HUMAN",
            "refseq_ac": "NP_001030022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reticulophagy regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "Reticulophagy receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 134 member B",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM134B",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy receptor FAM134B",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy regulator 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RETREG1",
                    "type": "recommended"
                },
                {
                    "name": "FAM134B",
                    "type": "synonym"
                },
                {
                    "name": "JK-1",
                    "type": "synonym"
                },
                {
                    "name": "JK1",
                    "type": "synonym"
                },
                {
                    "name": "RETREG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H6L5-1",
            "evidence": [
                {
                    "id": "613115",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613115"
                },
                {
                    "id": "0070150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVM3-1",
            "uniprot_ac": "Q5FVM3",
            "uniprot_id": "RETR1_RAT",
            "refseq_ac": "NP_001030084",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reticulophagy regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "Reticulophagy receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 134, member B",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM134B",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy receptor FAM134B",
                    "type": "synonym"
                },
                {
                    "name": "reticulophagy regulator 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Retreg1",
                    "type": "recommended"
                },
                {
                    "name": "Zfp622",
                    "type": "recommended"
                },
                {
                    "name": "Fam134b",
                    "type": "synonym"
                },
                {
                    "name": "Retreg1",
                    "type": "synonym"
                },
                {
                    "name": "Zfp622l1",
                    "type": "synonym"
                },
                {
                    "name": "Zfp622",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVM3-1",
            "evidence": [
                {
                    "id": "0070150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070150"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070150"
}