{
    "disease_id": "DOID:0090060",
    "recommended_name": {
        "id": "DOID:0090060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090060",
        "name": "Wolcott-Rallison syndrome",
        "description": "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "Wolcott-Rallison syndrome",
            "description": "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure."
        },
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "WRS",
            "description": ""
        },
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "Wolcott-Rallison syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "early-onset diabetes mellitus with multiple epiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "IDDM-MED syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "MED-IDDM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "Wolcott Rallison syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "name": "epiphyseal dysplasia multiple with early-onset diabetes mellitus",
            "description": ""
        },
        {
            "id": "MIM:226980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226980",
            "name": "Wolcott-Rallison syndrome",
            "description": "Wolcott-Rallison syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090060"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090060",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090060",
            "categories": []
        },
        {
            "id": "MONDO:0009192",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009192",
            "categories": []
        },
        {
            "id": "MIM:226980",
            "database": "MIM",
            "url": "https://www.omim.org/entry/226980",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B3B8-1",
            "uniprot_ac": "A0A8M2B3B8",
            "uniprot_id": "A0A8M2B3B8_DANRE",
            "refseq_ac": "XP_005156642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PRKR-like endoplasmic reticulum kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine kinase EIF2AK3",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2-alpha kinase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eif2ak3",
                    "type": "recommended"
                },
                {
                    "name": "eif2ak3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B3B8-1",
            "evidence": [
                {
                    "id": "0090060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2B5-1",
            "uniprot_ac": "Q9Z2B5",
            "uniprot_id": "E2AK3_MOUSE",
            "refseq_ac": "NP_001300847",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PRKR-like endoplasmic reticulum kinase",
                    "type": "synonym"
                },
                {
                    "name": "Pancreatic eIF2-alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine kinase EIF2AK3",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2-alpha kinase 3 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic eIF2-alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine kinase EIF2AK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2ak3",
                    "type": "recommended"
                },
                {
                    "name": "Eif2ak3",
                    "type": "synonym"
                },
                {
                    "name": "Pek",
                    "type": "synonym"
                },
                {
                    "name": "Perk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2B5-1",
            "evidence": [
                {
                    "id": "0090060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZJ5-1",
            "uniprot_ac": "Q9NZJ5",
            "uniprot_id": "E2AK3_HUMAN",
            "refseq_ac": "NP_004827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "HsPEK",
                    "type": "synonym"
                },
                {
                    "name": "PKR-like ER kinase",
                    "type": "synonym"
                },
                {
                    "name": "PRKR-like endoplasmic reticulum kinase",
                    "type": "synonym"
                },
                {
                    "name": "Pancreatic eIF2-alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine kinase EIF2AK3",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2-alpha kinase 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic EIF2-alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic eIF-2alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine kinase EIF2AK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2AK3",
                    "type": "recommended"
                },
                {
                    "name": "EIF2AK3",
                    "type": "synonym"
                },
                {
                    "name": "PEK",
                    "type": "synonym"
                },
                {
                    "name": "PERK",
                    "type": "synonym"
                },
                {
                    "name": "WRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZJ5-1",
            "evidence": [
                {
                    "id": "226980",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/226980"
                },
                {
                    "id": "0090060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1Z1-1",
            "uniprot_ac": "Q9Z1Z1",
            "uniprot_id": "E2AK3_RAT",
            "refseq_ac": "NP_113787",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "PRKR-like endoplasmic reticulum kinase",
                    "type": "synonym"
                },
                {
                    "name": "Pancreatic eIF2-alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine kinase EIF2AK3",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2-alpha kinase 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic eIF2-alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine kinase EIF2AK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2ak3",
                    "type": "recommended"
                },
                {
                    "name": "Eif2ak3",
                    "type": "synonym"
                },
                {
                    "name": "PEK",
                    "type": "synonym"
                },
                {
                    "name": "Pek",
                    "type": "synonym"
                },
                {
                    "name": "Perk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1Z1-1",
            "evidence": [
                {
                    "id": "0090060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NIV1-1",
            "uniprot_ac": "Q9NIV1",
            "uniprot_id": "E2AK3_DROME",
            "refseq_ac": "NP_649538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG2087-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmPEK",
                    "type": "synonym"
                },
                {
                    "name": "PEK-PA",
                    "type": "synonym"
                },
                {
                    "name": "PEK",
                    "type": "synonym"
                },
                {
                    "name": "PERK",
                    "type": "synonym"
                },
                {
                    "name": "PRKR-like endoplasmic reticulum kinase",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic eIF-2alpha kinase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic eIF2alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase RNA-like endoplasmic reticulum kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEK",
                    "type": "recommended"
                },
                {
                    "name": "CG2087",
                    "type": "synonym"
                },
                {
                    "name": "DPERK",
                    "type": "synonym"
                },
                {
                    "name": "DmPEK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2087",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2087",
                    "type": "synonym"
                },
                {
                    "name": "DpERK",
                    "type": "synonym"
                },
                {
                    "name": "EIF2AK3",
                    "type": "synonym"
                },
                {
                    "name": "PEK1",
                    "type": "synonym"
                },
                {
                    "name": "PEK",
                    "type": "synonym"
                },
                {
                    "name": "PERK",
                    "type": "synonym"
                },
                {
                    "name": "Pek",
                    "type": "synonym"
                },
                {
                    "name": "Perk",
                    "type": "synonym"
                },
                {
                    "name": "dPERK",
                    "type": "synonym"
                },
                {
                    "name": "dPerk",
                    "type": "synonym"
                },
                {
                    "name": "dpERK",
                    "type": "synonym"
                },
                {
                    "name": "pERK",
                    "type": "synonym"
                },
                {
                    "name": "pek",
                    "type": "synonym"
                },
                {
                    "name": "perk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NIV1-1",
            "evidence": [
                {
                    "id": "0090060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090060"
}