{
    "disease_id": "DOID:0090020",
    "recommended_name": {
        "id": "DOID:0090020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090020",
        "name": "split hand-foot malformation",
        "description": "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting."
    },
    "synonyms": [
        {
            "id": "DOID:0090020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090020",
            "name": "lobster-claw deformity",
            "description": ""
        },
        {
            "id": "DOID:0090020",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090020",
            "name": "split-hand deformity",
            "description": ""
        },
        {
            "id": "MONDO:0008464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "name": "split hand-foot malformation 1",
            "description": "Split-hand/foot malformation mapped to chromosome 7q21.3"
        },
        {
            "id": "MONDO:0008464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "name": "SHFD1",
            "description": ""
        },
        {
            "id": "MONDO:0008464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "name": "SHFM1",
            "description": ""
        },
        {
            "id": "MONDO:0008464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "name": "split hand-foot malformation type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "name": "split hand/foot malformation 1",
            "description": ""
        },
        {
            "id": "MONDO:0008464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "name": "split-hand/foot malformation type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "name": "split-hand/foot malformation 1",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0090021",
            "label": "split hand-foot malformation 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090023",
            "label": "split hand-foot malformation 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090024",
            "label": "split hand-foot malformation 1 with sensorineural hearing loss",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090025",
            "label": "split hand-foot malformation 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090026",
            "label": "split hand-foot malformation 6",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090024",
        "DOID:0090023",
        "DOID:0090020",
        "DOID:0090026",
        "DOID:0090025",
        "DOID:0090021"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090020",
            "categories": []
        },
        {
            "id": "MONDO:0008464",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008464",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S4Y7-1",
            "uniprot_ac": "B0S4Y7",
            "uniprot_id": "B0S4Y7_DANRE",
            "refseq_ac": "NP_001314869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 20",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 20",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif and leucine zipper containing kinase AZK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "map3k20a",
                    "type": "recommended"
                },
                {
                    "name": "map3k20a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-15i8.3",
                    "type": "synonym"
                },
                {
                    "name": "zak",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S4Y7-1",
            "evidence": [
                {
                    "id": "0090020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESL4-1",
            "uniprot_ac": "Q9ESL4",
            "uniprot_id": "M3K20_MOUSE",
            "refseq_ac": "NP_001158263",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 20",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper- and sterile alpha motif kinase ZAK",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper- and sterile alpha motif-containing kinase",
                    "type": "synonym"
                },
                {
                    "name": "MLK-like mitogen-activated protein triple kinase",
                    "type": "synonym"
                },
                {
                    "name": "MLK-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase kinase kinase MLT",
                    "type": "synonym"
                },
                {
                    "name": "Mixed lineage kinase-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif- and leucine zipper-containing kinase AZK",
                    "type": "synonym"
                },
                {
                    "name": "human cervical cancer suppressor gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper- and sterile alpha motif kinase ZAK",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper- and sterile alpha motif-containing kinase",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 20 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase MLT",
                    "type": "synonym"
                },
                {
                    "name": "mixed lineage kinase-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif and leucine zipper containing kinase AZK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map3k20",
                    "type": "recommended"
                },
                {
                    "name": "B230120H23Rik",
                    "type": "synonym"
                },
                {
                    "name": "HCCS-4",
                    "type": "synonym"
                },
                {
                    "name": "MLTKalpha",
                    "type": "synonym"
                },
                {
                    "name": "MLTKbeta",
                    "type": "synonym"
                },
                {
                    "name": "MLTK",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "Map3k20",
                    "type": "synonym"
                },
                {
                    "name": "Mltk",
                    "type": "synonym"
                },
                {
                    "name": "Zak",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESL4-1",
            "evidence": [
                {
                    "id": "0090020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AE17-1",
            "uniprot_ac": "D4AE17",
            "uniprot_id": "D4AE17_RAT",
            "refseq_ac": "NP_001385922",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 20",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper- and sterile alpha motif-containing kinase",
                    "type": "synonym"
                },
                {
                    "name": "MLK-like mitogen-activated protein triple kinase",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase kinase kinase MLT",
                    "type": "synonym"
                },
                {
                    "name": "Mixed lineage kinase-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif- and leucine zipper-containing kinase AZK",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 20 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase MLT",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif and leucine zipper containing kinase AZK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map3k20",
                    "type": "recommended"
                },
                {
                    "name": "MLTK",
                    "type": "synonym"
                },
                {
                    "name": "Map3k20",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561394",
                    "type": "synonym"
                },
                {
                    "name": "Zak",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AE17-1",
            "evidence": [
                {
                    "id": "0090020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYL2-1",
            "uniprot_ac": "Q9NYL2",
            "uniprot_id": "M3K20_HUMAN",
            "refseq_ac": "NP_057737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 20",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "HCCS-4",
                    "type": "synonym"
                },
                {
                    "name": "Human cervical cancer suppressor gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper- and sterile alpha motif-containing kinase",
                    "type": "synonym"
                },
                {
                    "name": "MLK-like mitogen-activated protein triple kinase",
                    "type": "synonym"
                },
                {
                    "name": "MLK-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase kinase kinase MLT",
                    "type": "synonym"
                },
                {
                    "name": "Mixed lineage kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "Mixed lineage kinase-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif- and leucine zipper-containing kinase AZK",
                    "type": "synonym"
                },
                {
                    "name": "ZAK1 homolog, leucine zipper and sterile-alpha motif kinase",
                    "type": "synonym"
                },
                {
                    "name": "human cervical cancer suppressor gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 20 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase MLT",
                    "type": "synonym"
                },
                {
                    "name": "mixed lineage kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "mixed lineage kinase with a leucine zipper and a sterile alpha motif",
                    "type": "synonym"
                },
                {
                    "name": "mixed lineage kinase-related kinase MRK-beta",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif and leucine zipper containing kinase AZK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAP3K20",
                    "type": "recommended"
                },
                {
                    "name": "AZK",
                    "type": "synonym"
                },
                {
                    "name": "CNM6",
                    "type": "synonym"
                },
                {
                    "name": "HCCS4",
                    "type": "synonym"
                },
                {
                    "name": "MAP3K20",
                    "type": "synonym"
                },
                {
                    "name": "MLK7",
                    "type": "synonym"
                },
                {
                    "name": "MLTKalpha",
                    "type": "synonym"
                },
                {
                    "name": "MLTKbeta",
                    "type": "synonym"
                },
                {
                    "name": "MLTK",
                    "type": "synonym"
                },
                {
                    "name": "MLT",
                    "type": "synonym"
                },
                {
                    "name": "MRK",
                    "type": "synonym"
                },
                {
                    "name": "SFMMP",
                    "type": "synonym"
                },
                {
                    "name": "ZAK",
                    "type": "synonym"
                },
                {
                    "name": "mlklak",
                    "type": "synonym"
                },
                {
                    "name": "pk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYL2-1",
            "evidence": [
                {
                    "id": "0090020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090020"
}