{
    "disease_id": "DOID:0080082",
    "recommended_name": {
        "id": "DOID:0080082",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080082",
        "name": "nonsyndromic congenital nail disorder 4",
        "description": "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080082",
            "name": "HYPONYCHIA CONGENITA",
            "description": ""
        },
        {
            "id": "DOID:0080082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080082",
            "name": "anonychia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "nonsyndromic congenital nail disorder 4",
            "description": "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene."
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "RSPO4 isolated congenital anonychia",
            "description": ""
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "isolated congenital anonychia caused by mutation in RSPO4",
            "description": ""
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "nail disorder, nonsyndromic congenital, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "nonsyndromic congenital nail disorder 4",
            "description": ""
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "nonsyndromic congenital nail disorder type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "NDNC4",
            "description": ""
        },
        {
            "id": "MONDO:0008798",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "name": "nail disorder, nonsyndromic congenital, 4",
            "description": ""
        },
        {
            "id": "MIM:206800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/206800",
            "name": "Nail disorder, non-syndromic congenital, 4",
            "description": "Nail disorder, non-syndromic congenital, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080082"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080082",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080082",
            "categories": []
        },
        {
            "id": "MONDO:0008798",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008798",
            "categories": []
        },
        {
            "id": "MIM:206800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/206800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BJ73-1",
            "uniprot_ac": "Q8BJ73",
            "uniprot_id": "RSPO4_MOUSE",
            "refseq_ac": "NP_001035779",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "R-spondin-4",
                    "type": "recommended"
                },
                {
                    "name": "Cristin-4",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-rich and single thrombospondin domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin family, member 4",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Roof plate-specific spondin-4",
                    "type": "synonym"
                },
                {
                    "name": "cristin-4",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-rich and single thrombospondin domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mCristin-4",
                    "type": "synonym"
                },
                {
                    "name": "roof plate-specific spondin-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rspo4",
                    "type": "recommended"
                },
                {
                    "name": "A730099F22",
                    "type": "synonym"
                },
                {
                    "name": "A930029K19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rspo4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BJ73-1",
            "evidence": [
                {
                    "id": "0080082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2I0M5-1",
            "uniprot_ac": "Q2I0M5",
            "uniprot_id": "RSPO4_HUMAN",
            "refseq_ac": "NP_001025042",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "R-spondin-4",
                    "type": "recommended"
                },
                {
                    "name": "R-spondin family, member 4",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin-4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Roof plate-specific spondin-4",
                    "type": "synonym"
                },
                {
                    "name": "hRspo4",
                    "type": "synonym"
                },
                {
                    "name": "roof plate-specific spondin-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSPO4",
                    "type": "recommended"
                },
                {
                    "name": "C20orf182",
                    "type": "synonym"
                },
                {
                    "name": "CRISTIN4",
                    "type": "synonym"
                },
                {
                    "name": "RSPO4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2I0M5-1",
            "evidence": [
                {
                    "id": "206800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/206800"
                },
                {
                    "id": "0080082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACX0-1",
            "uniprot_ac": "D4ACX0",
            "uniprot_id": "D4ACX0_RAT",
            "refseq_ac": "XP_006235324",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "R-spondin 4",
                    "type": "synonym"
                },
                {
                    "name": "R-spondin-4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rspo4",
                    "type": "recommended"
                },
                {
                    "name": "Rspo4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACX0-1",
            "evidence": [
                {
                    "id": "0080082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080082"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080082"
}