{
    "disease_id": "DOID:0081324",
    "recommended_name": {
        "id": "DOID:0081324",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081324",
        "name": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0081324",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081324",
            "name": "NEDGTH",
            "description": ""
        },
        {
            "id": "MONDO:0859296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859296",
            "name": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss",
            "description": ""
        },
        {
            "id": "MIM:620071",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620071",
            "name": "Birk-Aharoni syndrome",
            "description": "Birk-Aharoni syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081324"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081324",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081324",
            "categories": []
        },
        {
            "id": "MONDO:0859296",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859296",
            "categories": []
        },
        {
            "id": "MIM:620071",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620071",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62192-1",
            "uniprot_ac": "P62192",
            "uniprot_id": "PRS4_MOUSE",
            "refseq_ac": "NP_032973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "26S proteasome regulatory subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "26S protease regulatory subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "26S proteasome AAA-ATPase subunit RPT2",
                    "type": "synonym"
                },
                {
                    "name": "26S proteasome regulatory subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "P26s4",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome 26S subunit ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 26S subunit ATPase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmc1",
                    "type": "recommended"
                },
                {
                    "name": "P26s4",
                    "type": "synonym"
                },
                {
                    "name": "Psmc1",
                    "type": "synonym"
                },
                {
                    "name": "Rpt2/S4",
                    "type": "synonym"
                },
                {
                    "name": "S4",
                    "type": "synonym"
                },
                {
                    "name": "rpt2",
                    "type": "synonym"
                }
            ],
            "record_id": "P62192-1",
            "evidence": [
                {
                    "id": "0081324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62191-1",
            "uniprot_ac": "P62191",
            "uniprot_id": "PRS4_HUMAN",
            "refseq_ac": "NP_001317141",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "26S proteasome regulatory subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "26S protease regulatory subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "26S proteasome AAA-ATPase subunit RPT2",
                    "type": "synonym"
                },
                {
                    "name": "26S proteasome regulatory subunit 4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "26S proteasome regulatory subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "P26s4",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome 26S subunit ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) 26S subunit, ATPase, 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 26S ATPase subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMC1",
                    "type": "recommended"
                },
                {
                    "name": "NEDGTH",
                    "type": "synonym"
                },
                {
                    "name": "P26S4",
                    "type": "synonym"
                },
                {
                    "name": "PSMC1",
                    "type": "synonym"
                },
                {
                    "name": "RPT2",
                    "type": "synonym"
                },
                {
                    "name": "S4",
                    "type": "synonym"
                },
                {
                    "name": "p56",
                    "type": "synonym"
                }
            ],
            "record_id": "P62191-1",
            "evidence": [
                {
                    "id": "620071",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620071"
                },
                {
                    "id": "0081324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40327-1",
            "uniprot_ac": "P40327",
            "uniprot_id": "PRS4_YEAST",
            "refseq_ac": "NP_010277",
            "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": "26S proteasome regulatory subunit 4 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Tat-binding homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome regulatory particle base subunit RPT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPT2",
                    "type": "recommended"
                },
                {
                    "name": "D2920",
                    "type": "synonym"
                },
                {
                    "name": "RPT2",
                    "type": "synonym"
                },
                {
                    "name": "YHS4",
                    "type": "synonym"
                },
                {
                    "name": "YTA5",
                    "type": "synonym"
                }
            ],
            "record_id": "P40327-1",
            "evidence": [
                {
                    "id": "0081324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62193-1",
            "uniprot_ac": "P62193",
            "uniprot_id": "PRS4_RAT",
            "refseq_ac": "NP_476464",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "26S proteasome regulatory subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "26S protease regulatory subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "26S proteasome AAA-ATPase subunit RPT2",
                    "type": "synonym"
                },
                {
                    "name": "26S proteasome regulatory subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "P26s4",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome 26S subunit ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "peptidase (prosome, macropain) 26S subunit, ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "protease (prosome, macropain) 26S subunit, ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) 26S subunit, ATPase, 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmc1",
                    "type": "recommended"
                },
                {
                    "name": "Psmc1",
                    "type": "synonym"
                },
                {
                    "name": "s4",
                    "type": "synonym"
                }
            ],
            "record_id": "P62193-1",
            "evidence": [
                {
                    "id": "0081324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48601-1",
            "uniprot_ac": "P48601",
            "uniprot_id": "PRS4_DROME",
            "refseq_ac": "NP_001287493",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "26S proteasome regulatory subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "26S proteasome subunit 4 ATPase",
                    "type": "synonym"
                },
                {
                    "name": "CG5289-PB",
                    "type": "synonym"
                },
                {
                    "name": "P26s4",
                    "type": "synonym"
                },
                {
                    "name": "Rpt2-PB",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 26S subunit 4 ATPase",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 26S subunit subunit 4 ATPase",
                    "type": "synonym"
                },
                {
                    "name": "regulatory particle triple-A ATPase 2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpt2",
                    "type": "recommended"
                },
                {
                    "name": "5289",
                    "type": "synonym"
                },
                {
                    "name": "CG5289",
                    "type": "synonym"
                },
                {
                    "name": "Dm-S4-1",
                    "type": "synonym"
                },
                {
                    "name": "DmP26S4",
                    "type": "synonym"
                },
                {
                    "name": "Dm_Rpt2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5289",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5289",
                    "type": "synonym"
                },
                {
                    "name": "P26s4",
                    "type": "synonym"
                },
                {
                    "name": "PSMC1",
                    "type": "synonym"
                },
                {
                    "name": "Pros26.4",
                    "type": "synonym"
                },
                {
                    "name": "Rpt2",
                    "type": "synonym"
                },
                {
                    "name": "S4",
                    "type": "synonym"
                },
                {
                    "name": "dRpt2",
                    "type": "synonym"
                },
                {
                    "name": "p56",
                    "type": "synonym"
                },
                {
                    "name": "pros26.4",
                    "type": "synonym"
                },
                {
                    "name": "rpt2",
                    "type": "synonym"
                }
            ],
            "record_id": "P48601-1",
            "evidence": [
                {
                    "id": "0081324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081324"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081324"
}