{
    "disease_id": "DOID:0080963",
    "recommended_name": {
        "id": "DOID:0080963",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080963",
        "name": "anauxetic dysplasia 3",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030019",
            "name": "anauxetic dysplasia 3",
            "description": ""
        },
        {
            "id": "MONDO:0030019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030019",
            "name": "ANAUXETIC DYSPLASIA 3",
            "description": ""
        },
        {
            "id": "MONDO:0030019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030019",
            "name": "ANXD3",
            "description": ""
        },
        {
            "id": "MONDO:0030019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030019",
            "name": "anauxetic dysplasia 3",
            "description": ""
        },
        {
            "id": "MIM:618853",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618853",
            "name": "Anauxetic dysplasia 3",
            "description": "Anauxetic dysplasia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080963"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080963",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080963",
            "categories": []
        },
        {
            "id": "MONDO:0030019",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030019",
            "categories": []
        },
        {
            "id": "MIM:618853",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618853",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q567G6-1",
            "uniprot_ac": "Q567G6",
            "uniprot_id": "RMP64_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolus and neural progenitor protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "rmp64",
                    "type": "recommended"
                },
                {
                    "name": "fi11c01",
                    "type": "synonym"
                },
                {
                    "name": "nepro",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-22a1.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi11c01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112065",
                    "type": "synonym"
                }
            ],
            "record_id": "Q567G6-1",
            "evidence": [
                {
                    "id": "0080963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080963"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2U2-1",
            "uniprot_ac": "Q8R2U2",
            "uniprot_id": "RMP64_MOUSE",
            "refseq_ac": "NP_666084",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolus and neural progenitor protein",
                    "type": "recommended"
                },
                {
                    "name": "Neural progenitor protein",
                    "type": "synonym"
                },
                {
                    "name": "neural progenitor protein",
                    "type": "synonym"
                },
                {
                    "name": "nucleolus and neural progenitor protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein nepro",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nepro",
                    "type": "recommended"
                },
                {
                    "name": "Rmp64",
                    "type": "recommended"
                },
                {
                    "name": "Nepro",
                    "type": "synonym"
                },
                {
                    "name": "Rmp64",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2U2-1",
            "evidence": [
                {
                    "id": "0080963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080963"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NW34-1",
            "uniprot_ac": "Q6NW34",
            "uniprot_id": "RMP64_HUMAN",
            "refseq_ac": "NP_001306038",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease MRP subunit P64",
                    "type": "recommended"
                },
                {
                    "name": "Nucleolus and neural progenitor protein",
                    "type": "synonym"
                },
                {
                    "name": "nucleolus and neural progenitor protein",
                    "type": "synonym"
                },
                {
                    "name": "protein nepro homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease MRP subunit P64 isoform d",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RMP64",
                    "type": "recommended"
                },
                {
                    "name": "ANXD3",
                    "type": "synonym"
                },
                {
                    "name": "C3orf17",
                    "type": "synonym"
                },
                {
                    "name": "NEPRO",
                    "type": "synonym"
                },
                {
                    "name": "NET17",
                    "type": "synonym"
                },
                {
                    "name": "RMP64",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NW34-1",
            "evidence": [
                {
                    "id": "618853",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618853"
                },
                {
                    "id": "0080963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080963"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABZ3NNB6-1",
            "uniprot_ac": "A0ABZ3NNB6",
            "uniprot_id": "A0ABZ3NNB6_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": "Nucleolus and neural progenitor protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rmp64",
                    "type": "recommended"
                },
                {
                    "name": "Nepro",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311458",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABZ3NNB6-1",
            "evidence": [
                {
                    "id": "0080963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080963"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080963"
}