{
    "disease_id": "DOID:0111571",
    "recommended_name": {
        "id": "DOID:0111571",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111571",
        "name": "Weyers acrofacial dysostosis",
        "description": "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111571",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111571",
            "name": "Curry-Hall syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111571",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111571",
            "name": "WAD",
            "description": ""
        },
        {
            "id": "DOID:0111571",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111571",
            "name": "Weyers acrodental dysostosis",
            "description": ""
        },
        {
            "id": "DOID:0111571",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111571",
            "name": "acrofacial dysostosis, Weyers type",
            "description": ""
        },
        {
            "id": "MONDO:0008673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "name": "acrofacial dysostosis, Weyers type",
            "description": "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner."
        },
        {
            "id": "MONDO:0008673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "name": "Weyers acrodental dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0008673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "name": "Weyers acrofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0008673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "name": "curry-Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "name": "acrofacial dysostosis of Weyers",
            "description": ""
        },
        {
            "id": "MONDO:0008673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "name": "curry Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "name": "wad",
            "description": ""
        },
        {
            "id": "MIM:193530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193530",
            "name": "Acrofacial dysostosis, Weyers type",
            "description": "Acrofacial dysostosis, Weyers type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111571"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111571",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111571",
            "categories": []
        },
        {
            "id": "MONDO:0008673",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008673",
            "categories": []
        },
        {
            "id": "MIM:193530",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193530",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K1G2-1",
            "uniprot_ac": "Q8K1G2",
            "uniprot_id": "LBN_MOUSE",
            "refseq_ac": "NP_666032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Limbin",
                    "type": "recommended"
                },
                {
                    "name": "Ellis van Creveld syndrome 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "limbin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Evc2",
                    "type": "recommended"
                },
                {
                    "name": "1110017L09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Evc2",
                    "type": "synonym"
                },
                {
                    "name": "Lbn",
                    "type": "synonym"
                },
                {
                    "name": "limbin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1G2-1",
            "evidence": [
                {
                    "id": "0111571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57680-1",
            "uniprot_ac": "P57680",
            "uniprot_id": "EVC_MOUSE",
            "refseq_ac": "NP_067267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EvC complex member EVC",
                    "type": "recommended"
                },
                {
                    "name": "Ellis van Creveld gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ellis van Creveld gene syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Ellis-van Creveld syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "EvC protein (Ellis-van Creveld syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "ellis-van Creveld syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "evC complex member EVC isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "evC complex member EVC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Evc",
                    "type": "recommended"
                },
                {
                    "name": "Evc",
                    "type": "synonym"
                }
            ],
            "record_id": "P57680-1",
            "evidence": [
                {
                    "id": "0111571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57679-1",
            "uniprot_ac": "P57679",
            "uniprot_id": "EVC_HUMAN",
            "refseq_ac": "NP_001293021",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EvC complex member EVC",
                    "type": "recommended"
                },
                {
                    "name": "DWF-1",
                    "type": "synonym"
                },
                {
                    "name": "Ellis van Creveld protein",
                    "type": "synonym"
                },
                {
                    "name": "Ellis van Creveld syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Ellis-van Creveld syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "ellis-van Creveld syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "evC complex member EVC isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "evC complex member EVC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EVC",
                    "type": "recommended"
                },
                {
                    "name": "DWF-1",
                    "type": "synonym"
                },
                {
                    "name": "EVC1",
                    "type": "synonym"
                },
                {
                    "name": "EVCL",
                    "type": "synonym"
                },
                {
                    "name": "EVC",
                    "type": "synonym"
                }
            ],
            "record_id": "P57679-1",
            "evidence": [
                {
                    "id": "193530",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/193530"
                },
                {
                    "id": "0111571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UK5-1",
            "uniprot_ac": "Q86UK5",
            "uniprot_id": "LBN_HUMAN",
            "refseq_ac": "NP_001159608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Limbin",
                    "type": "recommended"
                },
                {
                    "name": "EVC2",
                    "type": "synonym"
                },
                {
                    "name": "Ellis van Creveld syndrome 2",
                    "type": "synonym"
                },
                {
                    "name": "Ellis-van Creveld syndrome protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ellis-van Creveld syndrome protein 2",
                    "type": "synonym"
                },
                {
                    "name": "limbin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "limbin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EVC2",
                    "type": "recommended"
                },
                {
                    "name": "EVC2",
                    "type": "synonym"
                },
                {
                    "name": "LBN",
                    "type": "synonym"
                },
                {
                    "name": "WAD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UK5-1",
            "evidence": [
                {
                    "id": "193530",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/193530"
                },
                {
                    "id": "0111571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZWN3-1",
            "uniprot_ac": "D3ZWN3",
            "uniprot_id": "D3ZWN3_RAT",
            "refseq_ac": "XP_038947650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "EvC ciliary complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "limbin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Evc2",
                    "type": "recommended"
                },
                {
                    "name": "Evc2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZWN3-1",
            "evidence": [
                {
                    "id": "0111571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V706-1",
            "uniprot_ac": "G3V706",
            "uniprot_id": "G3V706_RAT",
            "refseq_ac": "NP_001163910",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ellis van Creveld gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ellis van Creveld protein",
                    "type": "synonym"
                },
                {
                    "name": "Ellis van Creveld syndrome homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ellis van Creveld syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "EvC ciliary complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ellis-van Creveld syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "evC complex member EVC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Evc",
                    "type": "recommended"
                },
                {
                    "name": "Evc",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V706-1",
            "evidence": [
                {
                    "id": "0111571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111571"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111571"
}