{
    "disease_id": "DOID:0070129",
    "recommended_name": {
        "id": "DOID:0070129",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070129",
        "name": "autosomal recessive cutis laxa type IID",
        "description": "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070129",
            "name": "ARCL2D",
            "description": ""
        },
        {
            "id": "MONDO:0027451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027451",
            "name": "autosomal recessive cutis laxa type 2D",
            "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13."
        },
        {
            "id": "MONDO:0027451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027451",
            "name": "ARCL2D",
            "description": ""
        },
        {
            "id": "MIM:617403",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617403",
            "name": "Cutis laxa, autosomal recessive, 2D",
            "description": "Cutis laxa, autosomal recessive, 2D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070129"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070129",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070129",
            "categories": []
        },
        {
            "id": "MONDO:0027451",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027451",
            "categories": []
        },
        {
            "id": "MIM:617403",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617403",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FCD8-1",
            "uniprot_ac": "E7FCD8",
            "uniprot_id": "E7FCD8_DANRE",
            "refseq_ac": "XP_021325991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)-transporting two-sector ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase catalytic subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp6v1ab",
                    "type": "recommended"
                },
                {
                    "name": "atp6v1ab",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCD8-1",
            "evidence": [
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50516-1",
            "uniprot_ac": "P50516",
            "uniprot_id": "VATA_MOUSE",
            "refseq_ac": "NP_031534",
            "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 catalytic subunit A",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "70-kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, V1 subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, V1 subunit A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha 70 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal 70kD, V1 subunit A",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 69 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase catalytic subunit A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase catalytic subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal 70kDa",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v1a",
                    "type": "recommended"
                },
                {
                    "name": "Atp6a1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6a2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1a1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1a",
                    "type": "synonym"
                },
                {
                    "name": "VA68",
                    "type": "synonym"
                },
                {
                    "name": "VPP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P50516-1",
            "evidence": [
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38606-1",
            "uniprot_ac": "P38606",
            "uniprot_id": "VATA_HUMAN",
            "refseq_ac": "NP_001681",
            "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 catalytic subunit A",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal, subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "H(+)-transporting two-sector ATPase, subunit A",
                    "type": "synonym"
                },
                {
                    "name": "H+-transporting ATPase chain A, vacuolar (VA68 type)",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 69 kDa subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 69 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase A subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase (V-ATPase) catalytic subunit A",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase catalytic subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar ATPase isoform VA68",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump alpha subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar-type H(+)-ATPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6V1A",
                    "type": "recommended"
                },
                {
                    "name": "ARCL2D",
                    "type": "synonym"
                },
                {
                    "name": "ATP6A1",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1A1",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1A",
                    "type": "synonym"
                },
                {
                    "name": "DEE93",
                    "type": "synonym"
                },
                {
                    "name": "HO68",
                    "type": "synonym"
                },
                {
                    "name": "IECEE3",
                    "type": "synonym"
                },
                {
                    "name": "VA68",
                    "type": "synonym"
                },
                {
                    "name": "VPP2",
                    "type": "synonym"
                },
                {
                    "name": "Vma1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38606-1",
            "evidence": [
                {
                    "id": "0027451",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0027451"
                },
                {
                    "id": "617403",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617403"
                },
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17255-1",
            "uniprot_ac": "P17255",
            "uniprot_id": "VATA_YEAST",
            "refseq_ac": "NP_010096",
            "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 catalytic subunit A",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "H(+)-transporting V1 sector ATPase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Sce VMA intein",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "VDE",
                    "type": "synonym"
                },
                {
                    "name": "VMA1-derived endonuclease",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA1",
                    "type": "recommended"
                },
                {
                    "name": "CLS8",
                    "type": "synonym"
                },
                {
                    "name": "D1286",
                    "type": "synonym"
                },
                {
                    "name": "TFP1",
                    "type": "synonym"
                },
                {
                    "name": "VMA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17255-1",
            "evidence": [
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LXR0-1",
            "uniprot_ac": "A0ABK0LXR0",
            "uniprot_id": "A0ABK0LXR0_RAT",
            "refseq_ac": "NP_001101788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase catalytic subunit A",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V1 subunit A",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 69 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase catalytic subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v1a",
                    "type": "recommended"
                },
                {
                    "name": "Atp6v1a1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LXR0-1",
            "evidence": [
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK47-1",
            "uniprot_ac": "Q9VK47",
            "uniprot_id": "Q9VK47_DROME",
            "refseq_ac": "NP_609595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)-transporting two-sector ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "CG5075-PA",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase V1 subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "Vha68-3-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 68kD subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 68-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha68-3",
                    "type": "recommended"
                },
                {
                    "name": "CG5075",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5075",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5075",
                    "type": "synonym"
                },
                {
                    "name": "Vha68-3",
                    "type": "synonym"
                },
                {
                    "name": "Vha68",
                    "type": "synonym"
                },
                {
                    "name": "vha67-3",
                    "type": "synonym"
                },
                {
                    "name": "vha68-3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK47-1",
            "evidence": [
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27331-1",
            "uniprot_ac": "Q27331",
            "uniprot_id": "VATA2_DROME",
            "refseq_ac": "NP_001246015",
            "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 catalytic subunit A isoform 2",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "CG3762-PD",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 69 kDa subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase V1 subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit A 2",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "Vha68-2-PD",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 68 kDa subunit 2, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 68-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha68-2",
                    "type": "recommended"
                },
                {
                    "name": "A subunit",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1A",
                    "type": "synonym"
                },
                {
                    "name": "CG3762",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3762",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3762",
                    "type": "synonym"
                },
                {
                    "name": "MENE-R6",
                    "type": "synonym"
                },
                {
                    "name": "RE30552p",
                    "type": "synonym"
                },
                {
                    "name": "VATA",
                    "type": "synonym"
                },
                {
                    "name": "VHAA2",
                    "type": "synonym"
                },
                {
                    "name": "Vha6-2",
                    "type": "synonym"
                },
                {
                    "name": "Vha68-2",
                    "type": "synonym"
                },
                {
                    "name": "Vha68.2",
                    "type": "synonym"
                },
                {
                    "name": "Vha68",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01510",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s4214",
                    "type": "synonym"
                },
                {
                    "name": "vha67-2",
                    "type": "synonym"
                },
                {
                    "name": "vha68-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27331-1",
            "evidence": [
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48602-1",
            "uniprot_ac": "P48602",
            "uniprot_id": "VATA1_DROME",
            "refseq_ac": "NP_001260426",
            "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 catalytic subunit A isoform 1",
                    "type": "recommended"
                },
                {
                    "name": "7.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "CG12403-PB",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 69 kDa subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase V1 subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit A 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "Vha68-1-PB",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 68kD subunit 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 68-1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 68kD A subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 68",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase A subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha68-1",
                    "type": "recommended"
                },
                {
                    "name": "A subunit",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1A",
                    "type": "synonym"
                },
                {
                    "name": "CG12403",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12403",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12403",
                    "type": "synonym"
                },
                {
                    "name": "Vha-68-1",
                    "type": "synonym"
                },
                {
                    "name": "Vha68-1",
                    "type": "synonym"
                },
                {
                    "name": "Vha68",
                    "type": "synonym"
                },
                {
                    "name": "VhaA",
                    "type": "synonym"
                },
                {
                    "name": "Vhaa1",
                    "type": "synonym"
                },
                {
                    "name": "Vha",
                    "type": "synonym"
                },
                {
                    "name": "vha67-1",
                    "type": "synonym"
                },
                {
                    "name": "vha68-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P48602-1",
            "evidence": [
                {
                    "id": "0070129",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070129"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070129"
}