{
    "disease_id": "DOID:0060959",
    "recommended_name": {
        "id": "DOID:0060959",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060959",
        "name": "orofaciodigital syndrome II",
        "description": "An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33."
    },
    "synonyms": [
        {
            "id": "DOID:0060959",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060959",
            "name": "Mohr syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060959",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060959",
            "name": "Oral-facial-digital syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "orofaciodigital syndrome type II",
            "description": "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas."
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "MOHR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "Mohr syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "OFD2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "oral-facial-digital syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "OFD syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "oral facial digital syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "oral facial digital syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009642",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "name": "orofaciodigital syndrome II",
            "description": ""
        },
        {
            "id": "MIM:252100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252100",
            "name": "Orofaciodigital syndrome 2",
            "description": "Orofaciodigital syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060959"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060959",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060959",
            "categories": []
        },
        {
            "id": "MONDO:0009642",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009642",
            "categories": []
        },
        {
            "id": "MIM:252100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252100",
            "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": "0060959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060959"
                }
            ]
        },
        {
            "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": "0060959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060959"
                }
            ]
        },
        {
            "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": "252100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252100"
                },
                {
                    "id": "0060959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060959"
                }
            ]
        },
        {
            "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": "0060959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060959"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060959"
}