{
    "disease_id": "DOID:0081265",
    "recommended_name": {
        "id": "DOID:0081265",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081265",
        "name": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081265",
            "name": "IDDBAS",
            "description": ""
        },
        {
            "id": "MONDO:0032687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032687",
            "name": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",
            "description": ""
        },
        {
            "id": "MONDO:0032687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032687",
            "name": "IDDABS",
            "description": ""
        },
        {
            "id": "MIM:618342",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618342",
            "name": "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",
            "description": "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081265"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081265",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081265",
            "categories": []
        },
        {
            "id": "MONDO:0032687",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032687",
            "categories": []
        },
        {
            "id": "MIM:618342",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618342",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91VU7-1",
            "uniprot_ac": "Q91VU7",
            "uniprot_id": "PUS7_MOUSE",
            "refseq_ac": "NP_001276709",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 7 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 7 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pus7",
                    "type": "recommended"
                },
                {
                    "name": "C330017I15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1897",
                    "type": "synonym"
                },
                {
                    "name": "Pus7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VU7-1",
            "evidence": [
                {
                    "id": "0081265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96PZ0-1",
            "uniprot_ac": "Q96PZ0",
            "uniprot_id": "PUS7_HUMAN",
            "refseq_ac": "NP_001305092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 7 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 7 (putative)",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 7 homolog isoform a",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridylate synthase 7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUS7",
                    "type": "recommended"
                },
                {
                    "name": "IDDABS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1897",
                    "type": "synonym"
                },
                {
                    "name": "PUS7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PZ0-1",
            "evidence": [
                {
                    "id": "618342",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618342"
                },
                {
                    "id": "0081265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08647-1",
            "uniprot_ac": "Q08647",
            "uniprot_id": "PUS7_YEAST",
            "refseq_ac": "NP_014886",
            "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": "Multisubstrate pseudouridine synthase 7",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5.4.99.27",
                    "type": "synonym"
                },
                {
                    "name": "RNA pseudouridylate synthase 7",
                    "type": "synonym"
                },
                {
                    "name": "RNA-uridine isomerase 7",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridine synthase PUS7",
                    "type": "synonym"
                },
                {
                    "name": "tRNA pseudouridine(13) synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUS7",
                    "type": "recommended"
                },
                {
                    "name": "O5254",
                    "type": "synonym"
                },
                {
                    "name": "PUS7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08647-1",
            "evidence": [
                {
                    "id": "0081265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADZ9-1",
            "uniprot_ac": "D4ADZ9",
            "uniprot_id": "D4ADZ9_RAT",
            "refseq_ac": "NP_001164060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 7 homolog",
                    "type": "recommended"
                },
                {
                    "name": "pseudouridylate synthase 7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pus7",
                    "type": "recommended"
                },
                {
                    "name": "Pus7",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307054",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ADZ9-1",
            "evidence": [
                {
                    "id": "0081265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSK9-1",
            "uniprot_ac": "Q9VSK9",
            "uniprot_id": "PUS7_DROME",
            "refseq_ac": "NP_648231",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pseudouridylate synthase 7 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6745-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pus7-PA",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridine synthase 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pus7",
                    "type": "recommended"
                },
                {
                    "name": "CG6745",
                    "type": "synonym"
                },
                {
                    "name": "CT20937",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6745",
                    "type": "synonym"
                },
                {
                    "name": "PUS7",
                    "type": "synonym"
                },
                {
                    "name": "Pus7",
                    "type": "synonym"
                },
                {
                    "name": "pus7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSK9-1",
            "evidence": [
                {
                    "id": "0081265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081265"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081265"
}