{
    "disease_id": "DOID:0090025",
    "recommended_name": {
        "id": "DOID:0090025",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090025",
        "name": "split hand-foot malformation 3",
        "description": "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0090025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090025",
            "name": "SHFM3",
            "description": ""
        },
        {
            "id": "DOID:0090025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090025",
            "name": "chromosome 10q24 duplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090025",
            "name": "distal limb deficiencies with micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "split hand-foot malformation 3",
            "description": "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate."
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "10q24 microduplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "Buttiens-Fryns syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "SHFM3",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "chromosome 10q24 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "split hand-foot malformation 3",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "split hand-foot malformation type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "split-hand/foot malformation 3, gene duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "split-hand/foot malformation type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "Buttiens Fryns syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "limb deficiencies distal with micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0009525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "name": "split-hand/foot malformation 3",
            "description": ""
        },
        {
            "id": "MIM:246560",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246560",
            "name": "Split-hand/foot malformation 3",
            "description": "Split-hand/foot malformation 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090025"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090025",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090025",
            "categories": []
        },
        {
            "id": "MONDO:0009525",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009525",
            "categories": []
        },
        {
            "id": "MIM:246560",
            "database": "MIM",
            "url": "https://www.omim.org/entry/246560",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P57775-1",
            "uniprot_ac": "P57775",
            "uniprot_id": "FBXW4_HUMAN",
            "refseq_ac": "NP_071322",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/WD repeat-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Dactylin",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD-40 domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD-40 domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box/WD repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box/WD repeat-containing protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box/WD repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "dactylin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXW4",
                    "type": "recommended"
                },
                {
                    "name": "DAC",
                    "type": "synonym"
                },
                {
                    "name": "FBW4",
                    "type": "synonym"
                },
                {
                    "name": "FBWD4",
                    "type": "synonym"
                },
                {
                    "name": "FBXW4",
                    "type": "synonym"
                },
                {
                    "name": "SHFM3",
                    "type": "synonym"
                },
                {
                    "name": "SHSF3",
                    "type": "synonym"
                }
            ],
            "record_id": "P57775-1",
            "evidence": [
                {
                    "id": "246560",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/246560"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090025"
}