{
    "disease_id": "DOID:0110092",
    "recommended_name": {
        "id": "DOID:0110092",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110092",
        "name": "short-rib thoracic dysplasia 6 with or without polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110092",
            "name": "Majewski syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110092",
            "name": "SRPS2A",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110092",
            "name": "SRTD6",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110092",
            "name": "polydactyly with neonatal chondrodystrophy, type II",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110092",
            "name": "short rib-polydactyly syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short-rib thoracic dysplasia 6 with or without polydactyly",
            "description": "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia."
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "Majewski syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "SRPS2A",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "SRTD6",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "polydactyly with neonatal chondrodystrophy type II",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short rib-polydactyly syndrome type II",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short-rib thoracic dysplasia 6 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MIM:263520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263520",
            "name": "Short-rib thoracic dysplasia 6 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 6 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110092"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110092",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110092",
            "categories": []
        },
        {
            "id": "MONDO:0009894",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "categories": []
        },
        {
            "id": "MIM:263520",
            "database": "MIM",
            "url": "https://www.omim.org/entry/263520",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B435-1",
            "uniprot_ac": "A0A8M3B435",
            "uniprot_id": "A0A8M3B435_DANRE",
            "refseq_ac": "XP_009292952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nek1",
                    "type": "recommended"
                },
                {
                    "name": "nek1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B435-1",
            "evidence": [
                {
                    "id": "0110092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51954-1",
            "uniprot_ac": "P51954",
            "uniprot_id": "NEK1_MOUSE",
            "refseq_ac": "NP_001280566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-55 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Nek1 serine/threonine- and tyrosine-specific protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "kidney, anemia and testis",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek1",
                    "type": "recommended"
                },
                {
                    "name": "D8Ertd790e",
                    "type": "synonym"
                },
                {
                    "name": "Nek1",
                    "type": "synonym"
                },
                {
                    "name": "kat",
                    "type": "synonym"
                }
            ],
            "record_id": "P51954-1",
            "evidence": [
                {
                    "id": "0110092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96PY6-1",
            "uniprot_ac": "Q96PY6",
            "uniprot_id": "NEK1_HUMAN",
            "refseq_ac": "NP_001186326",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-55",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein-serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-55",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK1",
                    "type": "recommended"
                },
                {
                    "name": "ALS24",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1901",
                    "type": "synonym"
                },
                {
                    "name": "NEK1",
                    "type": "synonym"
                },
                {
                    "name": "NY-REN-55",
                    "type": "synonym"
                },
                {
                    "name": "OFD2",
                    "type": "synonym"
                },
                {
                    "name": "SRPS2A",
                    "type": "synonym"
                },
                {
                    "name": "SRPS2",
                    "type": "synonym"
                },
                {
                    "name": "SRTD6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PY6-1",
            "evidence": [
                {
                    "id": "263520",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/263520"
                },
                {
                    "id": "0110092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZB99-1",
            "uniprot_ac": "D3ZB99",
            "uniprot_id": "D3ZB99_RAT",
            "refseq_ac": "XP_038950290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek1",
                    "type": "recommended"
                },
                {
                    "name": "Nek1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZB99-1",
            "evidence": [
                {
                    "id": "0110092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110092"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110092"
}