{
    "disease_id": "DOID:0112171",
    "recommended_name": {
        "id": "DOID:0112171",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112171",
        "name": "wrinkly skin syndrome",
        "description": "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112171",
            "name": "WSS",
            "description": ""
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "wrinkly skin syndrome",
            "description": "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)."
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "WSS",
            "description": ""
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "wrinkled skin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "name": "wrinkly skin syndrome",
            "description": ""
        },
        {
            "id": "MIM:278250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278250",
            "name": "Wrinkly skin syndrome",
            "description": "Wrinkly skin syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112171"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112171",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112171",
            "categories": []
        },
        {
            "id": "MONDO:0010208",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010208",
            "categories": []
        },
        {
            "id": "MIM:278250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AWJ9-1",
            "uniprot_ac": "A0A8M3AWJ9",
            "uniprot_id": "A0A8M3AWJ9_DANRE",
            "refseq_ac": "XP_009303407",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit a",
                    "type": "recommended"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp6v0a2a",
                    "type": "recommended"
                },
                {
                    "name": "atp6v0a2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AWJ9-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15920-1",
            "uniprot_ac": "P15920",
            "uniprot_id": "VPP2_MOUSE",
            "refseq_ac": "NP_035726",
            "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 116 kDa subunit a 2",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V0 subunit a",
                    "type": "synonym"
                },
                {
                    "name": "ISF",
                    "type": "synonym"
                },
                {
                    "name": "Immune suppressor factor J6B7",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal H(+)-transporting ATPase V0 subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "ShIF",
                    "type": "synonym"
                },
                {
                    "name": "T-cell expressing clone j6",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "immune suppressor factor J6B7",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal H(+)-transporting ATPase V0 subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton translocating ATPase 116 kDa subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v0a2",
                    "type": "recommended"
                },
                {
                    "name": "8430408C20Rik",
                    "type": "synonym"
                },
                {
                    "name": "ATP6a2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6n1b",
                    "type": "synonym"
                },
                {
                    "name": "Atp6n1d",
                    "type": "synonym"
                },
                {
                    "name": "Atp6n2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v0a2",
                    "type": "synonym"
                },
                {
                    "name": "ISF",
                    "type": "synonym"
                },
                {
                    "name": "J6B7",
                    "type": "synonym"
                },
                {
                    "name": "SHIF",
                    "type": "synonym"
                },
                {
                    "name": "Stv1",
                    "type": "synonym"
                },
                {
                    "name": "TJ6M",
                    "type": "synonym"
                },
                {
                    "name": "TJ6s",
                    "type": "synonym"
                },
                {
                    "name": "Tj6",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P15920-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y487-1",
            "uniprot_ac": "Q9Y487",
            "uniprot_id": "VPP2_HUMAN",
            "refseq_ac": "NP_036595",
            "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 116 kDa subunit a 2",
                    "type": "recommended"
                },
                {
                    "name": "A2V-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V0 subunit a2",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal H(+)-transporting ATPase V0 subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "TJ6",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a2",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit a2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a2",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal H(+)-transporting ATPase V0 subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal H(+)-transporting ATPase V0 subunit a2",
                    "type": "synonym"
                },
                {
                    "name": "regeneration and tolerance factor",
                    "type": "synonym"
                },
                {
                    "name": "v-type proton ATPase 116 kDa subunit a",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton translocating ATPase 116 kDa subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6V0A2",
                    "type": "recommended"
                },
                {
                    "name": "A2",
                    "type": "synonym"
                },
                {
                    "name": "ARCL2A",
                    "type": "synonym"
                },
                {
                    "name": "ARCL",
                    "type": "synonym"
                },
                {
                    "name": "ATP6A2",
                    "type": "synonym"
                },
                {
                    "name": "ATP6N1D",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V0A2",
                    "type": "synonym"
                },
                {
                    "name": "J6B7",
                    "type": "synonym"
                },
                {
                    "name": "RTF",
                    "type": "synonym"
                },
                {
                    "name": "STV1",
                    "type": "synonym"
                },
                {
                    "name": "TJ6M",
                    "type": "synonym"
                },
                {
                    "name": "TJ6S",
                    "type": "synonym"
                },
                {
                    "name": "TJ6",
                    "type": "synonym"
                },
                {
                    "name": "VPH1",
                    "type": "synonym"
                },
                {
                    "name": "WSS",
                    "type": "synonym"
                },
                {
                    "name": "a2V",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y487-1",
            "evidence": [
                {
                    "id": "278250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278250"
                },
                {
                    "id": "ATP6V0A2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ATP6V0A2/#!details"
                },
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32563-1",
            "uniprot_ac": "P32563",
            "uniprot_id": "VPP1_YEAST",
            "refseq_ac": "NP_014913",
            "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 a, vacuolar isoform",
                    "type": "recommended"
                },
                {
                    "name": "H(+)-transporting V0 sector ATPase subunit a",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 95 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase a 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar pH protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump a subunit",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase subunit a 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPH1",
                    "type": "recommended"
                },
                {
                    "name": "VPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32563-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37296-1",
            "uniprot_ac": "P37296",
            "uniprot_id": "VPP2_YEAST",
            "refseq_ac": "NP_013770",
            "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 a, Golgi isoform",
                    "type": "recommended"
                },
                {
                    "name": "H(+)-transporting V0 sector ATPase subunit a",
                    "type": "synonym"
                },
                {
                    "name": "Similar to VPH1 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 101 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase a 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit AC115",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase subunit a 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STV1",
                    "type": "recommended"
                },
                {
                    "name": "STV1",
                    "type": "synonym"
                },
                {
                    "name": "YM9796.07",
                    "type": "synonym"
                }
            ],
            "record_id": "P37296-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKF6-1",
            "uniprot_ac": "Q9VKF6",
            "uniprot_id": "Q9VKF6_DROME",
            "refseq_ac": "NP_001260388",
            "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG12602-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-5-PB",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 5, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-5",
                    "type": "recommended"
                },
                {
                    "name": "CG12602",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12602",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12602",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-5",
                    "type": "synonym"
                },
                {
                    "name": "vha100-5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKF6-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZ10-1",
            "uniprot_ac": "Q9XZ10",
            "uniprot_id": "Q9XZ10_DROME",
            "refseq_ac": "NP_651672",
            "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG1709-PE",
                    "type": "synonym"
                },
                {
                    "name": "V0-ATPase a1",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-1-PE",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific V[[0]] subunit a1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase V0, subunit a1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD21248",
                    "type": "synonym"
                },
                {
                    "name": "CG1709",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1709",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1709",
                    "type": "synonym"
                },
                {
                    "name": "V0a",
                    "type": "synonym"
                },
                {
                    "name": "V0",
                    "type": "synonym"
                },
                {
                    "name": "V100-1",
                    "type": "synonym"
                },
                {
                    "name": "V100",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-1",
                    "type": "synonym"
                },
                {
                    "name": "Vha100",
                    "type": "synonym"
                },
                {
                    "name": "v0a1",
                    "type": "synonym"
                },
                {
                    "name": "v100",
                    "type": "synonym"
                },
                {
                    "name": "vha100-1",
                    "type": "synonym"
                },
                {
                    "name": "vha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZ10-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE77-1",
            "uniprot_ac": "Q9VE77",
            "uniprot_id": "Q9VE77_DROME",
            "refseq_ac": "NP_650720",
            "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG7678-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-4-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-4",
                    "type": "recommended"
                },
                {
                    "name": "CG7678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7678",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-4",
                    "type": "synonym"
                },
                {
                    "name": "vha100-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE77-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE75-1",
            "uniprot_ac": "Q9VE75",
            "uniprot_id": "Q9VE75_DROME",
            "refseq_ac": "NP_650722",
            "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG18617-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-2-PB",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H + ATPase subunit 100-2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-2",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD21735",
                    "type": "synonym"
                },
                {
                    "name": "CG18617",
                    "type": "synonym"
                },
                {
                    "name": "CG7679",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18617",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18617",
                    "type": "synonym"
                },
                {
                    "name": "V100-2",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-2",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.296",
                    "type": "synonym"
                },
                {
                    "name": "vha100-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE75-1",
            "evidence": [
                {
                    "id": "0112171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112171"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112171"
}