{
    "disease_id": "DOID:0060974",
    "recommended_name": {
        "id": "DOID:0060974",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060974",
        "name": "autosomal recessive Robinow syndrome 2",
        "description": "A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032800",
            "name": "robinow syndrome, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0032800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032800",
            "name": "RRS2",
            "description": ""
        },
        {
            "id": "MIM:618529",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618529",
            "name": "Robinow syndrome, autosomal recessive 2",
            "description": "Robinow syndrome, autosomal recessive 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060974"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060974",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060974",
            "categories": []
        },
        {
            "id": "MONDO:0032800",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032800",
            "categories": []
        },
        {
            "id": "MIM:618529",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618529",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503L9-1",
            "uniprot_ac": "Q503L9",
            "uniprot_id": "NXN_DANRE",
            "refseq_ac": "NP_001018431",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoredoxin",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.8",
                    "type": "synonym"
                },
                {
                    "name": "nucleoredoxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nxn",
                    "type": "recommended"
                },
                {
                    "name": "ns:zf-es94",
                    "type": "synonym"
                },
                {
                    "name": "nxn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110449",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503L9-1",
            "evidence": [
                {
                    "id": "0060974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97346-1",
            "uniprot_ac": "P97346",
            "uniprot_id": "NXN_MOUSE",
            "refseq_ac": "NP_032776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoredoxin",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Protein Red-1",
                    "type": "synonym"
                },
                {
                    "name": "nucleoredoxin",
                    "type": "synonym"
                },
                {
                    "name": "protein Red-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nxn",
                    "type": "recommended"
                },
                {
                    "name": "Gn25",
                    "type": "synonym"
                },
                {
                    "name": "Nxn",
                    "type": "synonym"
                },
                {
                    "name": "l11Jus13",
                    "type": "synonym"
                }
            ],
            "record_id": "P97346-1",
            "evidence": [
                {
                    "id": "0060974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DKJ4-1",
            "uniprot_ac": "Q6DKJ4",
            "uniprot_id": "NXN_HUMAN",
            "refseq_ac": "NP_001192248",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoredoxin",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.8",
                    "type": "synonym"
                },
                {
                    "name": "nucleoredoxin 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleoredoxin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NXN",
                    "type": "recommended"
                },
                {
                    "name": "NRX",
                    "type": "synonym"
                },
                {
                    "name": "NXN",
                    "type": "synonym"
                },
                {
                    "name": "RRS2",
                    "type": "synonym"
                },
                {
                    "name": "TRG-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DKJ4-1",
            "evidence": [
                {
                    "id": "618529",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618529"
                },
                {
                    "id": "0060974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A4C2-1",
            "uniprot_ac": "A0A8I6A4C2",
            "uniprot_id": "A0A8I6A4C2_RAT",
            "refseq_ac": "NP_001386500",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoredoxin",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.8",
                    "type": "synonym"
                },
                {
                    "name": "nucleoredoxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nxn",
                    "type": "recommended"
                },
                {
                    "name": "Nxn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A4C2-1",
            "evidence": [
                {
                    "id": "0060974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060974"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060974"
}