{
    "disease_id": "DOID:0112194",
    "recommended_name": {
        "id": "DOID:0112194",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112194",
        "name": "Filippi syndrome",
        "description": "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112194",
            "name": "Scott craniodigital syndrome with mental retardation",
            "description": ""
        },
        {
            "id": "DOID:0112194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112194",
            "name": "type 1 syndactyly-microcephaly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "Filippi syndrome",
            "description": "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive."
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "Filippi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "type 1 syndactyly-microcephaly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "FLPIS",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "Scott craniodigital syndrome with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "syndactyly type I with microcephaly and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "syndactyly type I with microcephaly and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "syndactyly, type I, with microcephaly and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly",
            "description": ""
        },
        {
            "id": "MIM:272440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272440",
            "name": "Filippi syndrome",
            "description": "Filippi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112194"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112194",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112194",
            "categories": []
        },
        {
            "id": "MONDO:0010092",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "categories": []
        },
        {
            "id": "MIM:272440",
            "database": "MIM",
            "url": "https://www.omim.org/entry/272440",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JKT0-1",
            "uniprot_ac": "A0AC58JKT0",
            "uniprot_id": "A0AC58JKT0_DANRE",
            "refseq_ac": "XP_073807092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoskeleton-associated protein 2-like isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton-associated protein 2-like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ckap2l",
                    "type": "recommended"
                },
                {
                    "name": "ckap2l",
                    "type": "synonym"
                },
                {
                    "name": "fa02g08",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-230g14.4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-255a21.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa02g08",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JKT0-1",
            "evidence": [
                {
                    "id": "0112194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TS74-1",
            "uniprot_ac": "Q7TS74",
            "uniprot_id": "CKP2L_MOUSE",
            "refseq_ac": "NP_853620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoskeleton-associated protein 2-like",
                    "type": "recommended"
                },
                {
                    "name": "Radial fiber and mitotic spindle protein",
                    "type": "synonym"
                },
                {
                    "name": "Radmis",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton-associated protein 2-like",
                    "type": "synonym"
                },
                {
                    "name": "radial fiber and mitotic spindle protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ckap2l",
                    "type": "recommended"
                },
                {
                    "name": "2010016H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610318C08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ckap2l",
                    "type": "synonym"
                },
                {
                    "name": "radmis",
                    "type": "synonym"
                },
                {
                    "name": "rdm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TS74-1",
            "evidence": [
                {
                    "id": "0112194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IYA6-1",
            "uniprot_ac": "Q8IYA6",
            "uniprot_id": "CKP2L_HUMAN",
            "refseq_ac": "NP_001291290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoskeleton-associated protein 2-like",
                    "type": "recommended"
                },
                {
                    "name": "Radial fiber and mitotic spindle protein",
                    "type": "synonym"
                },
                {
                    "name": "Radmis",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton associated protein 2 like",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton-associated protein 2-like isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "radial fiber and mitotic spindle protein",
                    "type": "synonym"
                },
                {
                    "name": "radmis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CKAP2L",
                    "type": "recommended"
                },
                {
                    "name": "CKAP2L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IYA6-1",
            "evidence": [
                {
                    "id": "272440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/272440"
                },
                {
                    "id": "0112194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8Z9-1",
            "uniprot_ac": "D3Z8Z9",
            "uniprot_id": "D3Z8Z9_RAT",
            "refseq_ac": "NP_001417670",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoskeleton associated protein 2-like",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton-associated protein 2-like isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ckap2l",
                    "type": "recommended"
                },
                {
                    "name": "Ckap2l",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8Z9-1",
            "evidence": [
                {
                    "id": "0112194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112194"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112194"
}