{
    "disease_id": "DOID:0060762",
    "recommended_name": {
        "id": "DOID:0060762",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060762",
        "name": "restrictive dermopathy",
        "description": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life."
    },
    "synonyms": [
        {
            "id": "DOID:0060762",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060762",
            "name": "hyperkeratosis-contracture syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060762",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060762",
            "name": "tight skin contracture syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060762",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060762",
            "name": "lethal restrictive dermopathy",
            "description": ""
        },
        {
            "id": "DOID:0060762",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060762",
            "name": "Infantile restrictive dermopathy",
            "description": ""
        },
        {
            "id": "DOID:0060762",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060762",
            "name": "Lethal tight skin contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "name": "restrictive dermopathy 1",
            "description": "A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34."
        },
        {
            "id": "MONDO:0800042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "name": "restrictive dermopathy",
            "description": ""
        },
        {
            "id": "MONDO:0800042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "name": "fetal hypokinesia sequence due to restrictive dermopathy",
            "description": ""
        },
        {
            "id": "MONDO:0800042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "name": "foetal hypokinesia sequence due to restrictive dermopathy",
            "description": ""
        },
        {
            "id": "MONDO:0800042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "name": "hyperkeratosis-contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "name": "restrictive dermopathy 1, lethal",
            "description": ""
        },
        {
            "id": "MONDO:0800042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "name": "tight skin contracture syndrome, lethal",
            "description": ""
        },
        {
            "id": "MIM:275210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275210",
            "name": "Restrictive dermopathy 1",
            "description": "Restrictive dermopathy 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070369",
            "label": "restrictive dermopathy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070370",
            "label": "restrictive dermopathy 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070369",
        "DOID:0060762",
        "DOID:0070370"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060762",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060762",
            "categories": []
        },
        {
            "id": "MONDO:0800042",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800042",
            "categories": []
        },
        {
            "id": "MIM:275210",
            "database": "MIM",
            "url": "https://www.omim.org/entry/275210",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9YHV4-1",
            "uniprot_ac": "Q9YHV4",
            "uniprot_id": "FSTA_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follistatin-A",
                    "type": "recommended"
                },
                {
                    "name": "Activin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FS",
                    "type": "synonym"
                },
                {
                    "name": "Follistatin-1",
                    "type": "synonym"
                },
                {
                    "name": "zFst1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fsta",
                    "type": "recommended"
                },
                {
                    "name": "cb446",
                    "type": "synonym"
                },
                {
                    "name": "fd07h10",
                    "type": "synonym"
                },
                {
                    "name": "fst1",
                    "type": "synonym"
                },
                {
                    "name": "fst",
                    "type": "synonym"
                },
                {
                    "name": "fs",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-111k10.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-88a5.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd07h10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9YHV4-1",
            "evidence": [
                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VE0-1",
            "uniprot_ac": "Q91VE0",
            "uniprot_id": "S27A4_MOUSE",
            "refseq_ac": "NP_036119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Long-chain fatty acid transport protein 4",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "6.2.1.15",
                    "type": "synonym"
                },
                {
                    "name": "6.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ACSVL4",
                    "type": "synonym"
                },
                {
                    "name": "Arachidonate--CoA ligase",
                    "type": "synonym"
                },
                {
                    "name": "FATP-4",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid transport protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain-fatty-acid--CoA ligase",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 27 member 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long-chain acyl-CoA synthetase 4",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate--CoA ligase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid transport protein 4",
                    "type": "synonym"
                },
                {
                    "name": "long-chain-fatty-acid--CoA ligase",
                    "type": "synonym"
                },
                {
                    "name": "very long-chain acyl-CoA synthetase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc27a4",
                    "type": "recommended"
                },
                {
                    "name": "ACSVL4",
                    "type": "synonym"
                },
                {
                    "name": "Acsvl4",
                    "type": "synonym"
                },
                {
                    "name": "FATP4",
                    "type": "synonym"
                },
                {
                    "name": "Fatp4",
                    "type": "synonym"
                },
                {
                    "name": "Slc27a4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VE0-1",
            "evidence": [
                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47931-1",
            "uniprot_ac": "P47931",
            "uniprot_id": "FST_MOUSE",
            "refseq_ac": "NP_001288302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follistatin",
                    "type": "recommended"
                },
                {
                    "name": "Activin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FS",
                    "type": "synonym"
                },
                {
                    "name": "activin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "follistatin isoform FST315 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fst",
                    "type": "recommended"
                },
                {
                    "name": "FS",
                    "type": "synonym"
                },
                {
                    "name": "Fst",
                    "type": "synonym"
                }
            ],
            "record_id": "P47931-1",
            "evidence": [
                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80W54-1",
            "uniprot_ac": "Q80W54",
            "uniprot_id": "FACE1_MOUSE",
            "refseq_ac": "NP_766288",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CAAX prenyl protease 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.84",
                    "type": "synonym"
                },
                {
                    "name": "CAAX prenyl protease 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FACE-1",
                    "type": "synonym"
                },
                {
                    "name": "Farnesylated proteins-converting enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Prenyl protein-specific endoprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc metalloproteinase Ste24 homolog",
                    "type": "synonym"
                },
                {
                    "name": "farnesylated-proteins converting enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "prenyl protein-specific endoprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc metallopeptidase, STE24 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc metalloproteinase, STE24 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zmpste24",
                    "type": "recommended"
                },
                {
                    "name": "A530043O15Rik",
                    "type": "synonym"
                },
                {
                    "name": "D030046F19",
                    "type": "synonym"
                },
                {
                    "name": "FACE1",
                    "type": "synonym"
                },
                {
                    "name": "Face-1",
                    "type": "synonym"
                },
                {
                    "name": "Face1",
                    "type": "synonym"
                },
                {
                    "name": "MADB",
                    "type": "synonym"
                },
                {
                    "name": "STE24",
                    "type": "synonym"
                },
                {
                    "name": "Ste24p",
                    "type": "synonym"
                },
                {
                    "name": "Zmpste24",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80W54-1",
            "evidence": [
                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75844-1",
            "uniprot_ac": "O75844",
            "uniprot_id": "FACE1_HUMAN",
            "refseq_ac": "NP_005848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CAAX prenyl protease 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.84",
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                },
                {
                    "name": "CAAX prenyl protease 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FACE-1",
                    "type": "synonym"
                },
                {
                    "name": "Farnesylated proteins-converting enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Prenyl protein-specific endoprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc metalloproteinase Ste24 homolog",
                    "type": "synonym"
                },
                {
                    "name": "farnesylated proteins-converting enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "prenyl protein-specific endoprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc metallopeptidase STE24 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc metalloproteinase Ste24 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZMPSTE24",
                    "type": "recommended"
                },
                {
                    "name": "FACE-1",
                    "type": "synonym"
                },
                {
                    "name": "FACE1",
                    "type": "synonym"
                },
                {
                    "name": "HGPS",
                    "type": "synonym"
                },
                {
                    "name": "PRO1",
                    "type": "synonym"
                },
                {
                    "name": "RSDM1",
                    "type": "synonym"
                },
                {
                    "name": "STE24",
                    "type": "synonym"
                },
                {
                    "name": "Ste24p",
                    "type": "synonym"
                },
                {
                    "name": "ZMPSTE24",
                    "type": "synonym"
                }
            ],
            "record_id": "O75844-1",
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                {
                    "id": "275210",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/275210"
                },
                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47154-1",
            "uniprot_ac": "P47154",
            "uniprot_id": "STE24_YEAST",
            "refseq_ac": "NP_012651",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "CAAX prenyl protease 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.84",
                    "type": "synonym"
                },
                {
                    "name": "A-factor-converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "PPSEP 1",
                    "type": "synonym"
                },
                {
                    "name": "Prenyl protein-specific endoprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE24",
                    "type": "recommended"
                },
                {
                    "name": "AFC1",
                    "type": "synonym"
                },
                {
                    "name": "J2032",
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                },
                {
                    "name": "PIO2",
                    "type": "synonym"
                },
                {
                    "name": "STE24",
                    "type": "synonym"
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            ],
            "record_id": "P47154-1",
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                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38225-1",
            "uniprot_ac": "P38225",
            "uniprot_id": "FAT1_YEAST",
            "refseq_ac": "NP_009597",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very long-chain fatty acid transport protein",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.-",
                    "type": "synonym"
                },
                {
                    "name": "VLCS",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain acyl-CoA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid transporter FAT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAT1",
                    "type": "recommended"
                },
                {
                    "name": "FAT1",
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                },
                {
                    "name": "YBR0411",
                    "type": "synonym"
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            ],
            "record_id": "P38225-1",
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                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A5K6-1",
            "uniprot_ac": "D4A5K6",
            "uniprot_id": "D4A5K6_RAT",
            "refseq_ac": "NP_001101444",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CAAX prenyl protease",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.84",
                    "type": "synonym"
                },
                {
                    "name": "CAAX prenyl protease 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc metallopeptidase, STE24 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc metalloproteinase, STE24 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zmpste24",
                    "type": "recommended"
                },
                {
                    "name": "Zmpste24",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A5K6-1",
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                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21674-1",
            "uniprot_ac": "P21674",
            "uniprot_id": "FST_RAT",
            "refseq_ac": "NP_036693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follistatin",
                    "type": "recommended"
                },
                {
                    "name": "Activin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FS",
                    "type": "synonym"
                },
                {
                    "name": "activin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "follistatin precursor",
                    "type": "synonym"
                },
                {
                    "name": "follistatin-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fst",
                    "type": "recommended"
                },
                {
                    "name": "FOL1",
                    "type": "synonym"
                },
                {
                    "name": "FS",
                    "type": "synonym"
                },
                {
                    "name": "Fst-288",
                    "type": "synonym"
                },
                {
                    "name": "Fst",
                    "type": "synonym"
                },
                {
                    "name": "RATFOL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P21674-1",
            "evidence": [
                {
                    "id": "0060762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7V3-1",
            "uniprot_ac": "G3V7V3",
            "uniprot_id": "G3V7V3_RAT",
            "refseq_ac": "NP_001094176",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060762"
}