{
    "disease_id": "DOID:0080693",
    "recommended_name": {
        "id": "DOID:0080693",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080693",
        "name": "Noonan syndrome-like disorder with loose anagen hair 2",
        "description": "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "MONDO:0054588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054588",
            "name": "Noonan syndrome-like disorder with loose anagen hair 2",
            "description": ""
        },
        {
            "id": "MONDO:0054588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054588",
            "name": "Noonan syndrome-like disorder with loose anagen hair 2",
            "description": ""
        },
        {
            "id": "MONDO:0054588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054588",
            "name": "NSLH2",
            "description": ""
        },
        {
            "id": "MIM:617506",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617506",
            "name": "Noonan syndrome-like disorder with loose anagen hair 2",
            "description": "Noonan syndrome-like disorder with loose anagen hair 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080693"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080693",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080693",
            "categories": []
        },
        {
            "id": "MONDO:0054588",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054588",
            "categories": []
        },
        {
            "id": "MIM:617506",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617506",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N207-1",
            "uniprot_ac": "A0A8M1N207",
            "uniprot_id": "A0A8M1N207_DANRE",
            "refseq_ac": "NP_001004527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "plb",
                    "type": "synonym"
                },
                {
                    "name": "ppp1cba",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase PP1-beta catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppp1cb",
                    "type": "recommended"
                },
                {
                    "name": "ik:tdsubc_2f2",
                    "type": "synonym"
                },
                {
                    "name": "ppp1cb",
                    "type": "synonym"
                },
                {
                    "name": "si:zc214p16.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa09h01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa11e06",
                    "type": "synonym"
                },
                {
                    "name": "xx:tdsubc_2f2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N207-1",
            "evidence": [
                {
                    "id": "0080693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62141-1",
            "uniprot_ac": "P62141",
            "uniprot_id": "PP1B_MOUSE",
            "refseq_ac": "NP_766295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase PP1-beta catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.53",
                    "type": "synonym"
                },
                {
                    "name": "PP-1B",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase PP1-beta catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp1cb",
                    "type": "recommended"
                },
                {
                    "name": "1200010B19",
                    "type": "synonym"
                },
                {
                    "name": "Ppp1cb",
                    "type": "synonym"
                }
            ],
            "record_id": "P62141-1",
            "evidence": [
                {
                    "id": "0080693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62140-1",
            "uniprot_ac": "P62140",
            "uniprot_id": "PP1B_HUMAN",
            "refseq_ac": "NP_002700",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase PP1-beta catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.53",
                    "type": "synonym"
                },
                {
                    "name": "PP-1B",
                    "type": "synonym"
                },
                {
                    "name": "PPP1CD",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 80p",
                    "type": "synonym"
                },
                {
                    "name": "myosin phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, catalytic subunit, beta isozyme",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, catalytic subunit, delta isozyme",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1-delta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase PP1-beta catalytic subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase PP1-beta catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPP1CB",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-80p",
                    "type": "synonym"
                },
                {
                    "name": "MP",
                    "type": "synonym"
                },
                {
                    "name": "NSLH2",
                    "type": "synonym"
                },
                {
                    "name": "PP-1B",
                    "type": "synonym"
                },
                {
                    "name": "PP1B",
                    "type": "synonym"
                },
                {
                    "name": "PP1Cbeta",
                    "type": "synonym"
                },
                {
                    "name": "PP1Cdelta",
                    "type": "synonym"
                },
                {
                    "name": "PP1beta",
                    "type": "synonym"
                },
                {
                    "name": "PP1c",
                    "type": "synonym"
                },
                {
                    "name": "PPP1CB",
                    "type": "synonym"
                },
                {
                    "name": "PPP1CD",
                    "type": "synonym"
                },
                {
                    "name": "PPP1beta",
                    "type": "synonym"
                }
            ],
            "record_id": "P62140-1",
            "evidence": [
                {
                    "id": "617506",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617506"
                },
                {
                    "id": "0080693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32598-1",
            "uniprot_ac": "P32598",
            "uniprot_id": "PP12_YEAST",
            "refseq_ac": "NP_011059",
            "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": "Serine/threonine-protein phosphatase PP1-2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "type 1 serine/threonine-protein phosphatase catalytic subunit GLC7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLC7",
                    "type": "recommended"
                },
                {
                    "name": "CID1",
                    "type": "synonym"
                },
                {
                    "name": "DIS2",
                    "type": "synonym"
                },
                {
                    "name": "GLC7",
                    "type": "synonym"
                }
            ],
            "record_id": "P32598-1",
            "evidence": [
                {
                    "id": "0080693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62142-1",
            "uniprot_ac": "P62142",
            "uniprot_id": "PP1B_RAT",
            "refseq_ac": "NP_037197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase PP1-beta catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.53",
                    "type": "synonym"
                },
                {
                    "name": "PP-1B",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, catalytic subunit, beta isozyme",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase-1a",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase PP1-beta catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp1cb",
                    "type": "recommended"
                },
                {
                    "name": "PP1B",
                    "type": "synonym"
                },
                {
                    "name": "PP1beta",
                    "type": "synonym"
                },
                {
                    "name": "Ppp1cb",
                    "type": "synonym"
                }
            ],
            "record_id": "P62142-1",
            "evidence": [
                {
                    "id": "0080693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48462-1",
            "uniprot_ac": "P48462",
            "uniprot_id": "PP1B_DROME",
            "refseq_ac": "NP_001259407",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase beta isoform",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "CG2096-PC",
                    "type": "synonym"
                },
                {
                    "name": "PP1beta9C",
                    "type": "synonym"
                },
                {
                    "name": "Protein flap wing",
                    "type": "synonym"
                },
                {
                    "name": "flap wing",
                    "type": "synonym"
                },
                {
                    "name": "flapwing, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "flapwing",
                    "type": "synonym"
                },
                {
                    "name": "flw-PC",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1beta at 9C",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flw",
                    "type": "recommended"
                },
                {
                    "name": "CG15305",
                    "type": "synonym"
                },
                {
                    "name": "CG2096",
                    "type": "synonym"
                },
                {
                    "name": "DmPp1-9C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2096",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2096",
                    "type": "synonym"
                },
                {
                    "name": "FLW/PP1B",
                    "type": "synonym"
                },
                {
                    "name": "FLW",
                    "type": "synonym"
                },
                {
                    "name": "PP-1c",
                    "type": "synonym"
                },
                {
                    "name": "PP-1",
                    "type": "synonym"
                },
                {
                    "name": "PP1 9C",
                    "type": "synonym"
                },
                {
                    "name": "PP1 b9C",
                    "type": "synonym"
                },
                {
                    "name": "PP1 beta9c",
                    "type": "synonym"
                },
                {
                    "name": "PP1-9C",
                    "type": "synonym"
                },
                {
                    "name": "PP1-BETA-9C",
                    "type": "synonym"
                },
                {
                    "name": "PP19C",
                    "type": "synonym"
                },
                {
                    "name": "PP1B_DROME",
                    "type": "synonym"
                },
                {
                    "name": "PP1B",
                    "type": "synonym"
                },
                {
                    "name": "PP1beta-9C",
                    "type": "synonym"
                },
                {
                    "name": "PP1beta9C",
                    "type": "synonym"
                },
                {
                    "name": "PP1beta",
                    "type": "synonym"
                },
                {
                    "name": "PP1cbeta",
                    "type": "synonym"
                },
                {
                    "name": "PP1c",
                    "type": "synonym"
                },
                {
                    "name": "PP1",
                    "type": "synonym"
                },
                {
                    "name": "Pp1-9C",
                    "type": "synonym"
                },
                {
                    "name": "Pp1beta-9C",
                    "type": "synonym"
                },
                {
                    "name": "Pp1beta9C",
                    "type": "synonym"
                },
                {
                    "name": "XE55",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.120",
                    "type": "synonym"
                },
                {
                    "name": "flw",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0172",
                    "type": "synonym"
                }
            ],
            "record_id": "P48462-1",
            "evidence": [
                {
                    "id": "0080693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080693"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080693"
}