{
    "disease_id": "DOID:0070140",
    "recommended_name": {
        "id": "DOID:0070140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070140",
        "name": "autosomal recessive cutis laxa type IIC",
        "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0027462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "name": "autosomal recessive cutis laxa type 2C",
            "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."
        },
        {
            "id": "MONDO:0027462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "name": "ARCL2C",
            "description": ""
        },
        {
            "id": "MIM:617402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617402",
            "name": "Cutis laxa, autosomal recessive, 2C",
            "description": "Cutis laxa, autosomal recessive, 2C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070140"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070140",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070140",
            "categories": []
        },
        {
            "id": "MONDO:0027462",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "categories": []
        },
        {
            "id": "MIM:617402",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617402",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RDT4-1",
            "uniprot_ac": "F1RDT4",
            "uniprot_id": "F1RDT4_DANRE",
            "refseq_ac": "NP_001352369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase H+ transporting V1 subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit E 1a",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit E 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp6v1e1a",
                    "type": "recommended"
                },
                {
                    "name": "atp6v1e1a",
                    "type": "synonym"
                },
                {
                    "name": "atp6v1e1",
                    "type": "synonym"
                },
                {
                    "name": "fc79b04",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-266k8.3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-271e10.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc79b04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101757",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RDT4-1",
            "evidence": [
                {
                    "id": "0070140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50518-1",
            "uniprot_ac": "P50518",
            "uniprot_id": "VATE1_MOUSE",
            "refseq_ac": "NP_031536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit E 1",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E",
                    "type": "synonym"
                },
                {
                    "name": "H(+)-ATPase E-like protein",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 31 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "VATPase, H+ transporting, lysosomal V1 subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "p31",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit E 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v1e1",
                    "type": "recommended"
                },
                {
                    "name": "2410029D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atp6e2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6e",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1e1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1e",
                    "type": "synonym"
                },
                {
                    "name": "D6Ertd385e",
                    "type": "synonym"
                },
                {
                    "name": "Vma4",
                    "type": "synonym"
                },
                {
                    "name": "p31",
                    "type": "synonym"
                }
            ],
            "record_id": "P50518-1",
            "evidence": [
                {
                    "id": "0070140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36543-1",
            "uniprot_ac": "P36543",
            "uniprot_id": "VATE1_HUMAN",
            "refseq_ac": "NP_001034455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit E 1",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "H(+)-transporting two-sector ATPase, 31kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "H+-transporting ATP synthase chain E, vacuolar",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 31 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase, subunit E",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit E 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "p31",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit E 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6V1E1",
                    "type": "recommended"
                },
                {
                    "name": "ARCL2C",
                    "type": "synonym"
                },
                {
                    "name": "ATP6E2",
                    "type": "synonym"
                },
                {
                    "name": "ATP6E",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1E1",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1E",
                    "type": "synonym"
                },
                {
                    "name": "P31",
                    "type": "synonym"
                },
                {
                    "name": "Vma4",
                    "type": "synonym"
                }
            ],
            "record_id": "P36543-1",
            "evidence": [
                {
                    "id": "0027462",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0027462"
                },
                {
                    "id": "617402",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617402"
                },
                {
                    "id": "0070140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22203-1",
            "uniprot_ac": "P22203",
            "uniprot_id": "VATE_YEAST",
            "refseq_ac": "NP_014977",
            "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": "V-type proton ATPase subunit E",
                    "type": "recommended"
                },
                {
                    "name": "H(+)-transporting V1 sector ATPase subunit E",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 27 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit E",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA4",
                    "type": "recommended"
                },
                {
                    "name": "O6241",
                    "type": "synonym"
                },
                {
                    "name": "VAT5",
                    "type": "synonym"
                },
                {
                    "name": "VMA4",
                    "type": "synonym"
                }
            ],
            "record_id": "P22203-1",
            "evidence": [
                {
                    "id": "0070140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PCU2-1",
            "uniprot_ac": "Q6PCU2",
            "uniprot_id": "VATE1_RAT",
            "refseq_ac": "NP_942040",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit E 1",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, V1 subunit E",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V1 subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "VATPase, H+ transporting, lysosomal V1 subunit E1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit E 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H(+)-ATPase, E subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H+ ATPase E1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit E 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v1e1",
                    "type": "recommended"
                },
                {
                    "name": "Atp6e2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6e",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1e1",
                    "type": "synonym"
                },
                {
                    "name": "P31",
                    "type": "synonym"
                },
                {
                    "name": "Vma4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PCU2-1",
            "evidence": [
                {
                    "id": "0070140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54611-1",
            "uniprot_ac": "P54611",
            "uniprot_id": "VATE_DROME",
            "refseq_ac": "NP_001287182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit E",
                    "type": "recommended"
                },
                {
                    "name": "CG1088-PC",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 26 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit E",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit E",
                    "type": "synonym"
                },
                {
                    "name": "Vha26-PC",
                    "type": "synonym"
                },
                {
                    "name": "oak gall",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATP synthase subunit E",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H+ATPase subunit E",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 26 kD E subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 26kD E subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 26kD subunit, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha26",
                    "type": "recommended"
                },
                {
                    "name": "ATP6V1E1",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA.GH03683",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH03683",
                    "type": "synonym"
                },
                {
                    "name": "CG1088",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1088",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1088",
                    "type": "synonym"
                },
                {
                    "name": "Vha26",
                    "type": "synonym"
                },
                {
                    "name": "VhaE",
                    "type": "synonym"
                },
                {
                    "name": "anon-83Bb",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:1419698..1419836",
                    "type": "synonym"
                },
                {
                    "name": "oak-gall",
                    "type": "synonym"
                },
                {
                    "name": "okg",
                    "type": "synonym"
                },
                {
                    "name": "vATPase",
                    "type": "synonym"
                },
                {
                    "name": "vha26",
                    "type": "synonym"
                }
            ],
            "record_id": "P54611-1",
            "evidence": [
                {
                    "id": "0070140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070140"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070140"
}