{
    "disease_id": "DOID:0060270",
    "recommended_name": {
        "id": "DOID:0060270",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060270",
        "name": "pontocerebellar hypoplasia type 2D",
        "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013438",
            "name": "pontocerebellar hypoplasia type 2D",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene."
        },
        {
            "id": "MONDO:0013438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013438",
            "name": "SEPSECS non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013438",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS",
            "description": ""
        },
        {
            "id": "MONDO:0013438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013438",
            "name": "pontocerebellar hypoplasia type 2D",
            "description": ""
        },
        {
            "id": "MONDO:0013438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013438",
            "name": "PCH2D",
            "description": ""
        },
        {
            "id": "MONDO:0013438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013438",
            "name": "pontocerebellar hypoplasia, type 2D",
            "description": ""
        },
        {
            "id": "MIM:613811",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613811",
            "name": "Pontocerebellar hypoplasia 2D",
            "description": "Pontocerebellar hypoplasia 2D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060270"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060270",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060270",
            "categories": []
        },
        {
            "id": "MONDO:0013438",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013438",
            "categories": []
        },
        {
            "id": "MIM:613811",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613811",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q803A7-1",
            "uniprot_ac": "Q803A7",
            "uniprot_id": "SPCS_DANRE",
            "refseq_ac": "NP_956448",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.9.1.2",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
                    "type": "synonym"
                },
                {
                    "name": "Sec synthase",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteinyl-tRNA(Sec) synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sep-tRNA:Sec-tRNA synthase",
                    "type": "synonym"
                },
                {
                    "name": "SepSecS",
                    "type": "synonym"
                },
                {
                    "name": "Soluble liver antigen/liver pancreas antigen-like",
                    "type": "synonym"
                },
                {
                    "name": "UGA suppressor tRNA-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "sec synthase",
                    "type": "synonym"
                },
                {
                    "name": "selenocysteine synthase",
                    "type": "synonym"
                },
                {
                    "name": "selenocysteinyl-tRNA(Sec) synthase",
                    "type": "synonym"
                },
                {
                    "name": "sep-tRNA:Sec-tRNA synthase",
                    "type": "synonym"
                },
                {
                    "name": "soluble liver antigen/liver pancreas antigen, like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sepsecs",
                    "type": "recommended"
                },
                {
                    "name": "lpl",
                    "type": "synonym"
                },
                {
                    "name": "sepsecs",
                    "type": "synonym"
                },
                {
                    "name": "sla/lpl",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55980",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803A7-1",
            "evidence": [
                {
                    "id": "0060270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P6M7-1",
            "uniprot_ac": "Q6P6M7",
            "uniprot_id": "SPCS_MOUSE",
            "refseq_ac": "NP_766078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.9.1.2",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
                    "type": "synonym"
                },
                {
                    "name": "SLA",
                    "type": "synonym"
                },
                {
                    "name": "Sec synthase",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteinyl-tRNA(Sec) synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sep-tRNA:Sec-tRNA synthase",
                    "type": "synonym"
                },
                {
                    "name": "SepSecS",
                    "type": "synonym"
                },
                {
                    "name": "Soluble liver antigen homolog",
                    "type": "synonym"
                },
                {
                    "name": "UGA suppressor tRNA-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "selenocysteinyl-tRNA(Sec) synthase",
                    "type": "synonym"
                },
                {
                    "name": "soluble liver antigen homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sepsecs",
                    "type": "recommended"
                },
                {
                    "name": "D5Ertd135e",
                    "type": "synonym"
                },
                {
                    "name": "SLA",
                    "type": "synonym"
                },
                {
                    "name": "SecS",
                    "type": "synonym"
                },
                {
                    "name": "Sepsecs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P6M7-1",
            "evidence": [
                {
                    "id": "0060270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HD40-1",
            "uniprot_ac": "Q9HD40",
            "uniprot_id": "SPCS_HUMAN",
            "refseq_ac": "NP_058651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.9.1.2",
                    "type": "synonym"
                },
                {
                    "name": "LP",
                    "type": "synonym"
                },
                {
                    "name": "Liver-pancreas antigen",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
                    "type": "synonym"
                },
                {
                    "name": "SLA-p35",
                    "type": "synonym"
                },
                {
                    "name": "SLA/LP autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "SLA",
                    "type": "synonym"
                },
                {
                    "name": "Sec synthase",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteinyl-tRNA(Sec) synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sep-tRNA:Sec-tRNA synthase",
                    "type": "synonym"
                },
                {
                    "name": "SepSecS",
                    "type": "synonym"
                },
                {
                    "name": "Soluble liver antigen",
                    "type": "synonym"
                },
                {
                    "name": "UGA suppressor tRNA-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "liver-pancreas antigen",
                    "type": "synonym"
                },
                {
                    "name": "soluble liver antigen/liver pancreas antigen",
                    "type": "synonym"
                },
                {
                    "name": "tRNA(Ser/Sec)-associated antigenic protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEPSECS",
                    "type": "recommended"
                },
                {
                    "name": "LP",
                    "type": "synonym"
                },
                {
                    "name": "PCH2D",
                    "type": "synonym"
                },
                {
                    "name": "SEPSECS",
                    "type": "synonym"
                },
                {
                    "name": "SLA-p35",
                    "type": "synonym"
                },
                {
                    "name": "SLA/LP",
                    "type": "synonym"
                },
                {
                    "name": "SLA",
                    "type": "synonym"
                },
                {
                    "name": "SecS",
                    "type": "synonym"
                },
                {
                    "name": "TRNP48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HD40-1",
            "evidence": [
                {
                    "id": "613811",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613811"
                },
                {
                    "id": "0060270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNE3-1",
            "uniprot_ac": "Q9VNE3",
            "uniprot_id": "Q9VNE3_DROME",
            "refseq_ac": "NP_649556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.9.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG1427-PC",
                    "type": "synonym"
                },
                {
                    "name": "Sec synthetase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "SecS-PC",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Selenocysteinyl-tRNA(Sec) synthase",
                    "type": "synonym"
                },
                {
                    "name": "Sep-tRNA:Sec-tRNA synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SecS",
                    "type": "recommended"
                },
                {
                    "name": "CG1427",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1427",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1427",
                    "type": "synonym"
                },
                {
                    "name": "SecS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNE3-1",
            "evidence": [
                {
                    "id": "0060270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060270"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060270"
}