{
    "disease_id": "DOID:0111647",
    "recommended_name": {
        "id": "DOID:0111647",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111647",
        "name": "Schopf-Schulz-Passarge syndrome",
        "description": "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0111647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111647",
            "name": "SSPS",
            "description": ""
        },
        {
            "id": "DOID:0111647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111647",
            "name": "eccrine tumors-ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111647",
            "name": "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111647",
            "name": "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111647",
            "name": "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "Schpf-Schulz-Passarge syndrome",
            "description": "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy."
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "SSPS",
            "description": ""
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "eccrine tumors-ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "SCHOPF-Schulz-Passarge syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "name": "eccrine tumours with ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:224750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224750",
            "name": "Schopf-Schulz-Passarge syndrome",
            "description": "Schopf-Schulz-Passarge syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111647"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111647",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111647",
            "categories": []
        },
        {
            "id": "MONDO:0009145",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009145",
            "categories": []
        },
        {
            "id": "MIM:224750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P43446-1",
            "uniprot_ac": "P43446",
            "uniprot_id": "WN10A_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-10a",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "wnt10a",
                    "type": "recommended"
                },
                {
                    "name": "WNT-10A",
                    "type": "synonym"
                },
                {
                    "name": "wnt-10a",
                    "type": "synonym"
                }
            ],
            "record_id": "P43446-1",
            "evidence": [
                {
                    "id": "0111647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70701-1",
            "uniprot_ac": "P70701",
            "uniprot_id": "WN10A_MOUSE",
            "refseq_ac": "NP_033544",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-10a",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-10a precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-10a",
                    "type": "synonym"
                },
                {
                    "name": "wingless related MMTV integration site 10a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt10a",
                    "type": "recommended"
                },
                {
                    "name": "Wnt10a",
                    "type": "synonym"
                }
            ],
            "record_id": "P70701-1",
            "evidence": [
                {
                    "id": "0111647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZT5-1",
            "uniprot_ac": "Q9GZT5",
            "uniprot_id": "WN10A_HUMAN",
            "refseq_ac": "NP_079492",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-10a",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-10a precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-10a",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 10A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNT10A",
                    "type": "recommended"
                },
                {
                    "name": "ECTD16",
                    "type": "synonym"
                },
                {
                    "name": "OODD",
                    "type": "synonym"
                },
                {
                    "name": "SSPS",
                    "type": "synonym"
                },
                {
                    "name": "STHAG4",
                    "type": "synonym"
                },
                {
                    "name": "WNT10A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZT5-1",
            "evidence": [
                {
                    "id": "224750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224750"
                },
                {
                    "id": "0111647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZRW5-1",
            "uniprot_ac": "D3ZRW5",
            "uniprot_id": "D3ZRW5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt10a",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZRW5-1",
            "evidence": [
                {
                    "id": "0111647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM25-1",
            "uniprot_ac": "Q9VM25",
            "uniprot_id": "Q9VM25_DROME",
            "refseq_ac": "NP_609109",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt",
                    "type": "recommended"
                },
                {
                    "name": "CG4971-PC",
                    "type": "synonym"
                },
                {
                    "name": "Wnt oncogene analog 10",
                    "type": "synonym"
                },
                {
                    "name": "Wnt10-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt10",
                    "type": "recommended"
                },
                {
                    "name": "CG4971",
                    "type": "synonym"
                },
                {
                    "name": "D-Wnt-10",
                    "type": "synonym"
                },
                {
                    "name": "DWnt-10",
                    "type": "synonym"
                },
                {
                    "name": "DWnt10",
                    "type": "synonym"
                },
                {
                    "name": "Dm DWnt10",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4971",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4971",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt-10",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt10",
                    "type": "synonym"
                },
                {
                    "name": "Wnt10",
                    "type": "synonym"
                },
                {
                    "name": "wnt10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM25-1",
            "evidence": [
                {
                    "id": "0111647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111647"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111647"
}