{
    "disease_id": "DOID:0060279",
    "recommended_name": {
        "id": "DOID:0060279",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060279",
        "name": "pontocerebellar hypoplasia type 10",
        "description": "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014349",
            "name": "pontocerebellar hypoplasia type 10",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene."
        },
        {
            "id": "MONDO:0014349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014349",
            "name": "CLP1 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014349",
            "name": "CLP1-related pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014349",
            "name": "PCH10",
            "description": ""
        },
        {
            "id": "MONDO:0014349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014349",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1",
            "description": ""
        },
        {
            "id": "MONDO:0014349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014349",
            "name": "pontocerebellar hypoplasia, type 10",
            "description": ""
        },
        {
            "id": "MIM:615803",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615803",
            "name": "Pontocerebellar hypoplasia 10",
            "description": "Pontocerebellar hypoplasia 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060279"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060279",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060279",
            "categories": []
        },
        {
            "id": "MONDO:0014349",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014349",
            "categories": []
        },
        {
            "id": "MIM:615803",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615803",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F3I6-1",
            "uniprot_ac": "E7F3I6",
            "uniprot_id": "CLP1_DANRE",
            "refseq_ac": "NP_001333167",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.78",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylation factor Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA cleavage complex II protein Clp1",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation factor I subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clp1",
                    "type": "recommended"
                },
                {
                    "name": "clp1",
                    "type": "synonym"
                },
                {
                    "name": "fa28a12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa28a12",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F3I6-1",
            "evidence": [
                {
                    "id": "0060279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LI9-1",
            "uniprot_ac": "Q99LI9",
            "uniprot_id": "CLP1_MOUSE",
            "refseq_ac": "NP_598601",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.78",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylation factor Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA cleavage complex II protein Clp1",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA cleavage complex II protein Clp1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clp1",
                    "type": "recommended"
                },
                {
                    "name": "Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Heab",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LI9-1",
            "evidence": [
                {
                    "id": "0060279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92989-1",
            "uniprot_ac": "Q92989",
            "uniprot_id": "CLP1_HUMAN",
            "refseq_ac": "NP_001136069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.78",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylation factor Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA cleavage complex II protein Clp1",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation factor I subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast CFIA subunit Clp1p",
                    "type": "synonym"
                },
                {
                    "name": "polyadenylation factor Clp1",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide 5'-hydroxyl-kinase Clp1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA cleavage complex II protein Clp1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLP1",
                    "type": "recommended"
                },
                {
                    "name": "CLP1",
                    "type": "synonym"
                },
                {
                    "name": "HEAB",
                    "type": "synonym"
                },
                {
                    "name": "hClp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92989-1",
            "evidence": [
                {
                    "id": "615803",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615803"
                },
                {
                    "id": "0060279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08685-1",
            "uniprot_ac": "Q08685",
            "uniprot_id": "CLP1_YEAST",
            "refseq_ac": "NP_014893",
            "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": "mRNA cleavage and polyadenylation factor CLP1",
                    "type": "recommended"
                },
                {
                    "name": "cleavage polyadenylation factor subunit CLP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLP1",
                    "type": "recommended"
                },
                {
                    "name": "CLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08685-1",
            "evidence": [
                {
                    "id": "0060279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQL4-1",
            "uniprot_ac": "Q5PQL4",
            "uniprot_id": "CLP1_RAT",
            "refseq_ac": "NP_001009599",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.78",
                    "type": "synonym"
                },
                {
                    "name": "ATP/GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CLP1, cleavage and polyadenylation factor I subunit, homolog",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylation factor Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Polynucleotide kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA cleavage complex II protein Clp1",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation factor I subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "polyadenylation factor Clp1",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "polyribonucleotide 5'-hydroxyl-kinase Clp1",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA cleavage complex II protein Clp1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clp1",
                    "type": "recommended"
                },
                {
                    "name": "Clp1",
                    "type": "synonym"
                },
                {
                    "name": "Heab",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307679",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQL4-1",
            "evidence": [
                {
                    "id": "0060279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K284-1",
            "uniprot_ac": "Q7K284",
            "uniprot_id": "CLP1_DROME",
            "refseq_ac": "NP_610876",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CLP1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG5970-PA",
                    "type": "synonym"
                },
                {
                    "name": "Crowded by cid",
                    "type": "synonym"
                },
                {
                    "name": "cbc-PA",
                    "type": "synonym"
                },
                {
                    "name": "crowded by cid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cbc",
                    "type": "recommended"
                },
                {
                    "name": "CBC",
                    "type": "synonym"
                },
                {
                    "name": "CG5970",
                    "type": "synonym"
                },
                {
                    "name": "Cbc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5970",
                    "type": "synonym"
                },
                {
                    "name": "cbc",
                    "type": "synonym"
                },
                {
                    "name": "cg5970",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K284-1",
            "evidence": [
                {
                    "id": "0060279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060279"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060279"
}