{
    "disease_id": "DOID:0060589",
    "recommended_name": {
        "id": "DOID:0060589",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060589",
        "name": "Yunis-Varon syndrome",
        "description": "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060589",
            "name": "cleidocranial dysplasia-micrognathia-absent thumbs syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060589",
            "name": "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia",
            "description": ""
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "Yunis-Varon syndrome",
            "description": "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person."
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "Yunis Varon Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "Yunis Varon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "Yunis-Varon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "Yunis-Varn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia",
            "description": ""
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "cleidocranial dysplasia-micrognathia-absent thumbs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008995",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "name": "YVS",
            "description": ""
        },
        {
            "id": "MIM:216340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216340",
            "name": "Yunis-Varon syndrome",
            "description": "Yunis-Varon syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060589"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060589",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060589",
            "categories": []
        },
        {
            "id": "MONDO:0008995",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008995",
            "categories": []
        },
        {
            "id": "MIM:216340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/216340",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91WF7-1",
            "uniprot_ac": "Q91WF7",
            "uniprot_id": "FIG4_MOUSE",
            "refseq_ac": "NP_598760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphoinositide phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "SAC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sac domain-containing inositol phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein phosphatase FIG4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "polyphosphoinositide phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "serine-protein phosphatase FIG4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fig4",
                    "type": "recommended"
                },
                {
                    "name": "A530089I17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fig4",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0274",
                    "type": "synonym"
                },
                {
                    "name": "Sac3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WF7-1",
            "evidence": [
                {
                    "id": "0060589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92562-1",
            "uniprot_ac": "Q92562",
            "uniprot_id": "FIG4_HUMAN",
            "refseq_ac": "NP_055660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphoinositide phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog, SAC domain containing lipid phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog, SAC1 domain containing lipid phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 homolog, SAC1 lipid phosphatase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "SAC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sac domain-containing inositol phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein phosphatase FIG4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "polyphosphoinositide phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "serine-protein phosphatase FIG4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIG4",
                    "type": "recommended"
                },
                {
                    "name": "ALS11",
                    "type": "synonym"
                },
                {
                    "name": "BOP",
                    "type": "synonym"
                },
                {
                    "name": "BTOP",
                    "type": "synonym"
                },
                {
                    "name": "CMT4J",
                    "type": "synonym"
                },
                {
                    "name": "FIG4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0274",
                    "type": "synonym"
                },
                {
                    "name": "SAC3",
                    "type": "synonym"
                },
                {
                    "name": "YVS",
                    "type": "synonym"
                },
                {
                    "name": "dJ249I4.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92562-1",
            "evidence": [
                {
                    "id": "216340",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/216340"
                },
                {
                    "id": "0060589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42837-1",
            "uniprot_ac": "P42837",
            "uniprot_id": "FIG4_YEAST",
            "refseq_ac": "NP_014074",
            "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": "Polyphosphoinositide phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "Factor-induced gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIG4",
                    "type": "recommended"
                },
                {
                    "name": "FIG4",
                    "type": "synonym"
                },
                {
                    "name": "N0330",
                    "type": "synonym"
                }
            ],
            "record_id": "P42837-1",
            "evidence": [
                {
                    "id": "0060589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR06-1",
            "uniprot_ac": "Q9VR06",
            "uniprot_id": "Q9VR06_DROME",
            "refseq_ac": "NP_608841",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "CG17840-PA",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "FIG4 phosphoinositide 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "FIG4-PA",
                    "type": "synonym"
                },
                {
                    "name": "factor-induced-gene 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIG4",
                    "type": "recommended"
                },
                {
                    "name": "CG17840",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17840",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17840",
                    "type": "synonym"
                },
                {
                    "name": "FIG4",
                    "type": "synonym"
                },
                {
                    "name": "Fig4",
                    "type": "synonym"
                },
                {
                    "name": "dFIG 4",
                    "type": "synonym"
                },
                {
                    "name": "dFIG4",
                    "type": "synonym"
                },
                {
                    "name": "dFig4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR06-1",
            "evidence": [
                {
                    "id": "0060589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060589"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060589"
}