{
    "disease_id": "DOID:0081362",
    "recommended_name": {
        "id": "DOID:0081362",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081362",
        "name": "Pierpont syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "DOID:0081362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081362",
            "name": "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081362",
            "name": "Plantar lipomatosis-unusual facies-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "Pierpont syndrome",
            "description": "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear."
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "Pierpont syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "plantar lipomatosis-facial dysmorphism-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "plantar lipomatosis-unusual facies-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "PRPTS",
            "description": ""
        },
        {
            "id": "MIM:602342",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602342",
            "name": "Pierpont syndrome",
            "description": "Pierpont syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081362"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081362",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081362",
            "categories": []
        },
        {
            "id": "MONDO:0011213",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "categories": []
        },
        {
            "id": "MIM:602342",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602342",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5WVU0-1",
            "uniprot_ac": "A5WVU0",
            "uniprot_id": "A5WVU0_DANRE",
            "refseq_ac": "NP_001313469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1b",
                    "type": "synonym"
                },
                {
                    "name": "tbl1x receptor 1b",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1 X-linked receptor 1b",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1 X-linked receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbl1xr1b",
                    "type": "recommended"
                },
                {
                    "name": "tbl1xr1b",
                    "type": "synonym"
                },
                {
                    "name": "tbl1xr1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63617",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WVU0-1",
            "evidence": [
                {
                    "id": "0081362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5PF33-1",
            "uniprot_ac": "A5PF33",
            "uniprot_id": "A5PF33_DANRE",
            "refseq_ac": "XP_005172880",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbl1xr1a",
                    "type": "recommended"
                },
                {
                    "name": "CH211-51H4.1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "fc46g07",
                    "type": "synonym"
                },
                {
                    "name": "tbl1xr1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc46g07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110312",
                    "type": "synonym"
                }
            ],
            "record_id": "A5PF33-1",
            "evidence": [
                {
                    "id": "0081362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHJ5-1",
            "uniprot_ac": "Q8BHJ5",
            "uniprot_id": "TBL1R_MOUSE",
            "refseq_ac": "NP_109657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1X-linked receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbl1xr1",
                    "type": "recommended"
                },
                {
                    "name": "8030499H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "A630076E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "C21",
                    "type": "synonym"
                },
                {
                    "name": "C230089I12Rik",
                    "type": "synonym"
                },
                {
                    "name": "DC42",
                    "type": "synonym"
                },
                {
                    "name": "Ira1",
                    "type": "synonym"
                },
                {
                    "name": "TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1xr1",
                    "type": "synonym"
                },
                {
                    "name": "Tblr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHJ5-1",
            "evidence": [
                {
                    "id": "0081362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZK7-1",
            "uniprot_ac": "Q9BZK7",
            "uniprot_id": "TBL1R_HUMAN",
            "refseq_ac": "NP_001308122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1X receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta like 1 X-linked receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "C21",
                    "type": "synonym"
                },
                {
                    "name": "DC42",
                    "type": "synonym"
                },
                {
                    "name": "IRA1",
                    "type": "synonym"
                },
                {
                    "name": "MRD41",
                    "type": "synonym"
                },
                {
                    "name": "TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "TBLR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZK7-1",
            "evidence": [
                {
                    "id": "602342",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602342"
                },
                {
                    "id": "0081362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38262-1",
            "uniprot_ac": "P38262",
            "uniprot_id": "SIF2_YEAST",
            "refseq_ac": "NP_009661",
            "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": "SIR4-interacting protein SIF2",
                    "type": "recommended"
                },
                {
                    "name": "Sif2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIF2",
                    "type": "recommended"
                },
                {
                    "name": "EMB1",
                    "type": "synonym"
                },
                {
                    "name": "SIF2",
                    "type": "synonym"
                },
                {
                    "name": "YBR0832",
                    "type": "synonym"
                }
            ],
            "record_id": "P38262-1",
            "evidence": [
                {
                    "id": "0081362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNF4-1",
            "uniprot_ac": "D3ZNF4",
            "uniprot_id": "D3ZNF4_RAT",
            "refseq_ac": "NP_001102411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1XR1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TBL1X receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like 1X-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transducin (beta)-like 1 X-linked receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbl1xr1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560053",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1xr1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZNF4-1",
            "evidence": [
                {
                    "id": "0081362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95RJ9-1",
            "uniprot_ac": "Q95RJ9",
            "uniprot_id": "EBI_DROME",
            "refseq_ac": "NP_477329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein ebi",
                    "type": "recommended"
                },
                {
                    "name": "CG4063-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta transducin-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "ebi-PA",
                    "type": "synonym"
                },
                {
                    "name": "ebi",
                    "type": "synonym"
                },
                {
                    "name": "enhancer on chromosome 2-complementation group 2g",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ebi",
                    "type": "recommended"
                },
                {
                    "name": "CG4063",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4063",
                    "type": "synonym"
                },
                {
                    "name": "E-2f",
                    "type": "synonym"
                },
                {
                    "name": "E-2g",
                    "type": "synonym"
                },
                {
                    "name": "Ebi",
                    "type": "synonym"
                },
                {
                    "name": "FBXW4",
                    "type": "synonym"
                },
                {
                    "name": "Tb11",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1",
                    "type": "synonym"
                },
                {
                    "name": "ebi",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16213",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95RJ9-1",
            "evidence": [
                {
                    "id": "0081362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081362"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081362"
}