{
    "disease_id": "DOID:0080081",
    "recommended_name": {
        "id": "DOID:0080081",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080081",
        "name": "nonsyndromic congenital nail disorder 3",
        "description": "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails."
    },
    "synonyms": [
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "nonsyndromic congenital nail disorder 3",
            "description": "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene."
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "PLCD1 inherited isolated nail anomaly",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "inherited isolated nail anomaly caused by mutation in PLCD1",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "nail disorder, nonsyndromic congenital, 3, (leukonychia)",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "nail disorder, nonsyndromic congenital, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "nonsyndromic congenital nail disorder type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "Gorlin Bushkell Jensen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "NDNC3",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "leukonychia totalis multiple sebaceous cysts renal calculi",
            "description": ""
        },
        {
            "id": "MONDO:0007900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "name": "nail disorder, nonsyndromic congenital, 3",
            "description": ""
        },
        {
            "id": "MIM:151600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/151600",
            "name": "Nail disorder, non-syndromic congenital, 3",
            "description": "Nail disorder, non-syndromic congenital, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080081"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080081",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080081",
            "categories": []
        },
        {
            "id": "MONDO:0007900",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007900",
            "categories": []
        },
        {
            "id": "MIM:151600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/151600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BAJ8-1",
            "uniprot_ac": "A0A8M2BAJ8",
            "uniprot_id": "A0A8M2BAJ8_DANRE",
            "refseq_ac": "XP_005163413",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoinositide phospholipase C",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plcd1b",
                    "type": "recommended"
                },
                {
                    "name": "Plcd1",
                    "type": "synonym"
                },
                {
                    "name": "fj78d10",
                    "type": "synonym"
                },
                {
                    "name": "plcd1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj78d10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55868",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BAJ8-1",
            "evidence": [
                {
                    "id": "0080081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R3B1-1",
            "uniprot_ac": "Q8R3B1",
            "uniprot_id": "PLCD1_MOUSE",
            "refseq_ac": "NP_001280577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-delta 1",
                    "type": "synonym"
                },
                {
                    "name": "PLC-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C delta 1 Lf",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcd1",
                    "type": "recommended"
                },
                {
                    "name": "Plcd1",
                    "type": "synonym"
                },
                {
                    "name": "Plcd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R3B1-1",
            "evidence": [
                {
                    "id": "0080081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51178-1",
            "uniprot_ac": "P51178",
            "uniprot_id": "PLCD1_HUMAN",
            "refseq_ac": "NP_001124436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-III",
                    "type": "synonym"
                },
                {
                    "name": "PLC-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C I 1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-III",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLCD1",
                    "type": "recommended"
                },
                {
                    "name": "NDNC3",
                    "type": "synonym"
                },
                {
                    "name": "PLC-III",
                    "type": "synonym"
                },
                {
                    "name": "PLCD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51178-1",
            "evidence": [
                {
                    "id": "151600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/151600"
                },
                {
                    "id": "0080081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32383-1",
            "uniprot_ac": "P32383",
            "uniprot_id": "PLC1_YEAST",
            "refseq_ac": "NP_015055",
            "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": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phospholipase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLC1",
                    "type": "recommended"
                },
                {
                    "name": "PLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32383-1",
            "evidence": [
                {
                    "id": "0080081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10688-1",
            "uniprot_ac": "P10688",
            "uniprot_id": "PLCD1_RAT",
            "refseq_ac": "NP_058731",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-III",
                    "type": "synonym"
                },
                {
                    "name": "PLC-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-III",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-delta1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-delta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C delta 1 long form",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C-III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcd1",
                    "type": "recommended"
                },
                {
                    "name": "Plc1",
                    "type": "synonym"
                },
                {
                    "name": "Plcd1",
                    "type": "synonym"
                }
            ],
            "record_id": "P10688-1",
            "evidence": [
                {
                    "id": "0080081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14249-1",
            "uniprot_ac": "Q14249",
            "uniprot_id": "NUCG_HUMAN",
            "refseq_ac": "NP_004426",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endonuclease G, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.1.30.-",
                    "type": "synonym"
                },
                {
                    "name": "Endo G",
                    "type": "synonym"
                },
                {
                    "name": "endo G",
                    "type": "synonym"
                },
                {
                    "name": "endonuclease G, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "endonuclease G, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial endonuclease G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENDOG",
                    "type": "recommended"
                },
                {
                    "name": "ENDOG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14249-1",
            "evidence": [
                {
                    "id": "0080081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080081"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080081"
}