{
    "disease_id": "DOID:0110092",
    "recommended_name": {
        "id": "DOID:0110092",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0110092",
            "name": "Majewski syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "SRPS2A",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "SRTD6",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110092",
            "name": "polydactyly with neonatal chondrodystrophy, type II",
            "description": ""
        },
        {
            "id": "DOID:0110092",
            "resource": "Disease Ontology",
            "url": "http://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": "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-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": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "Srps, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "polydactyly with neonatal chondrodystrophy, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short rib-polydactyly syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009894",
            "name": "short rib-polydactyly syndrome, type 2A",
            "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": "http://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": "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related kinase 1; serine/threonine-protein kinase Nek1; Nek1 serine/threonine- and tyrosine-specific protein kinase; nimA-related protein kinase 1; never in mitosis A-related kinase 1; NY-REN-55 antigen; kidney, anemia and testis",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "D8Ertd790e; kat",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Nek1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110092",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-55",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1; protein-serine/threonine kinase; nimA-related protein kinase 1; renal carcinoma antigen NY-REN-55; never in mitosis A-related kinase 1; NIMA (never in mitosis gene a)-related kinase 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALS24; NY-REN-55; OFD2; SRPS2; SRPS2A; SRTD6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1901",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NEK1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110092",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110092"
                },
                {
                    "id": "263520",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/263520"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nek1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "nek1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110092",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K5C7-1",
            "uniprot_ac": "A0A0G2K5C7",
            "uniprot_id": "A0A0G2K5C7_RAT",
            "refseq_ac": "XP_038950291",
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek1 isoform X4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Nek1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110092",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110092"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110092"
}