{
    "disease_id": "DOID:0060179",
    "recommended_name": {
        "id": "DOID:0060179",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060179",
        "name": "Renpenning syndrome",
        "description": "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males."
    },
    "synonyms": [
        {
            "id": "DOID:0060179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "name": "Golabi-Ito-Hall syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "name": "X-linked intellectual disability, Renpenning type",
            "description": ""
        },
        {
            "id": "DOID:0060179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "name": "X-linked mental retardation Renpenning type",
            "description": ""
        },
        {
            "id": "DOID:0060179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "name": "X-linked mental retardation with spastic diplegia",
            "description": ""
        },
        {
            "id": "DOID:0060179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "name": "syndromic X-linked mental retardation 8",
            "description": ""
        },
        {
            "id": "DOID:0060179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "name": "X-linked intellectual disability due to PQBP1 mutations",
            "description": ""
        },
        {
            "id": "DOID:0060179",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "name": "Sutherland-Haan X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Renpenning syndrome",
            "description": "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature."
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Golabi-Ito-Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Renpenning syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Renpenning syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Sutherland-Haan X-linked intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Sutherland-Haan X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "X-linked intellectual disability Renpenning type",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "X-linked intellectual disability due to PQBP1 mutations",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "X-linked intellectual disability with spastic diplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "X-linked intellectual disability, Renpenning type",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "renpenning syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "syndromic X-linked intellectual disability 8",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "MRXS3",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "MRXS8",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "RENS1",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Renpenning syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "Sutherland-Haan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "X-linked intellectual disability syndromic 3",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "X-linked mental retardation syndromic 3",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "intellectual disability, X-linked Renpenning type",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "mental retardation, X-linked 55",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "mental retardation, X-linked Renpenning type",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "mental retardation, X-linked, Renpenning type",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "mental retardation, X-linked, syndromic 3",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "mental retardation, X-linked, syndromic 8",
            "description": ""
        },
        {
            "id": "MONDO:0010653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "name": "mental retardation, X-linked, with spastic diplegia",
            "description": ""
        },
        {
            "id": "MIM:309500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309500",
            "name": "Renpenning syndrome 1",
            "description": "Renpenning syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060179"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060179",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060179",
            "categories": []
        },
        {
            "id": "MONDO:0010653",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010653",
            "categories": []
        },
        {
            "id": "MIM:309500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91VJ5-1",
            "uniprot_ac": "Q91VJ5",
            "uniprot_id": "PQBP1_MOUSE",
            "refseq_ac": "NP_001239457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyglutamine-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "38 kDa nuclear protein containing a WW domain",
                    "type": "synonym"
                },
                {
                    "name": "Npw38",
                    "type": "synonym"
                },
                {
                    "name": "PQBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Polyglutamine tract-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamine tract-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamine-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "scurfy candidate 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pqbp1",
                    "type": "recommended"
                },
                {
                    "name": "Npw38",
                    "type": "synonym"
                },
                {
                    "name": "PQBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Pqbp1",
                    "type": "synonym"
                },
                {
                    "name": "Sfc2",
                    "type": "synonym"
                },
                {
                    "name": "npw38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VJ5-1",
            "evidence": [
                {
                    "id": "0060179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60828-1",
            "uniprot_ac": "O60828",
            "uniprot_id": "PQBP1_HUMAN",
            "refseq_ac": "NP_001027553",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyglutamine-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "38 kDa nuclear protein containing a WW domain",
                    "type": "synonym"
                },
                {
                    "name": "Npw38",
                    "type": "synonym"
                },
                {
                    "name": "PQBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Polyglutamine tract-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamine tract-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamine-binding protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PQBP1",
                    "type": "recommended"
                },
                {
                    "name": "JM26",
                    "type": "synonym"
                },
                {
                    "name": "MRX2",
                    "type": "synonym"
                },
                {
                    "name": "MRX55",
                    "type": "synonym"
                },
                {
                    "name": "MRXS3",
                    "type": "synonym"
                },
                {
                    "name": "MRXS8",
                    "type": "synonym"
                },
                {
                    "name": "NPW38",
                    "type": "synonym"
                },
                {
                    "name": "PQBP1",
                    "type": "synonym"
                },
                {
                    "name": "RENS1",
                    "type": "synonym"
                },
                {
                    "name": "SHS",
                    "type": "synonym"
                }
            ],
            "record_id": "O60828-1",
            "evidence": [
                {
                    "id": "309500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309500"
                },
                {
                    "id": "0060179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PCT5-1",
            "uniprot_ac": "Q6PCT5",
            "uniprot_id": "PQBP1_RAT",
            "refseq_ac": "NP_001013979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyglutamine-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PQBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Polyglutamine tract-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamine tract-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamine-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pqbp1",
                    "type": "recommended"
                },
                {
                    "name": "Pqbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PCT5-1",
            "evidence": [
                {
                    "id": "0060179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060179"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBY6-1",
            "uniprot_ac": "Q9VBY6",
            "uniprot_id": "Q9VBY6_DROME",
            "refseq_ac": "NP_651331",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11820-PA",
                    "type": "synonym"
                },
                {
                    "name": "PQBP1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Poly-glutamine tract binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PQBP1",
                    "type": "recommended"
                },
                {
                    "name": "CG11820",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11820",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11820",
                    "type": "synonym"
                },
                {
                    "name": "PQBP-1",
                    "type": "synonym"
                },
                {
                    "name": "PQBP1",
                    "type": "synonym"
                },
                {
                    "name": "dPQBP-1",
                    "type": "synonym"
                },
                {
                    "name": "dPQBP1",
                    "type": "synonym"
                },
                {
                    "name": "dpqbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBY6-1",
            "evidence": [
                {
                    "id": "0060179",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060179"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060179"
}