{
    "disease_id": "DOID:0060272",
    "recommended_name": {
        "id": "DOID:0060272",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060272",
        "name": "pontocerebellar hypoplasia type 3",
        "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "pontocerebellar hypoplasia type 3",
            "description": "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3."
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCH with optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCH without dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCH3",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "PCLO non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "cerebellar atrophy with progressive microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "clam",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO",
            "description": ""
        },
        {
            "id": "MONDO:0011948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "name": "pontocerebellar hypoplasia, type 3",
            "description": ""
        },
        {
            "id": "MIM:608027",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608027",
            "name": "Pontocerebellar hypoplasia 3",
            "description": "Pontocerebellar hypoplasia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060272"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060272",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060272",
            "categories": []
        },
        {
            "id": "MONDO:0011948",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011948",
            "categories": []
        },
        {
            "id": "MIM:608027",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608027",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AJG6-1",
            "uniprot_ac": "A0A8M3AJG6",
            "uniprot_id": "A0A8M3AJG6_DANRE",
            "refseq_ac": "XP_009291733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein piccolo",
                    "type": "recommended"
                },
                {
                    "name": "Aczonin",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein pclob isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pclob",
                    "type": "recommended"
                },
                {
                    "name": "pclob",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AJG6-1",
            "evidence": [
                {
                    "id": "0060272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58J9N3-1",
            "uniprot_ac": "A0AC58J9N3",
            "uniprot_id": "A0AC58J9N3_DANRE",
            "refseq_ac": "XP_073803181",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein piccolo",
                    "type": "recommended"
                },
                {
                    "name": "Aczonin",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pcloa",
                    "type": "recommended"
                },
                {
                    "name": "pcloa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58J9N3-1",
            "evidence": [
                {
                    "id": "0060272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYX7-1",
            "uniprot_ac": "Q9QYX7",
            "uniprot_id": "PCLO_MOUSE",
            "refseq_ac": "NP_001104266",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein piccolo",
                    "type": "recommended"
                },
                {
                    "name": "Aczonin",
                    "type": "synonym"
                },
                {
                    "name": "Brain-derived HLMN protein",
                    "type": "synonym"
                },
                {
                    "name": "Multidomain presynaptic cytomatrix protein",
                    "type": "synonym"
                },
                {
                    "name": "aczonin",
                    "type": "synonym"
                },
                {
                    "name": "brain-derived HLMN protein",
                    "type": "synonym"
                },
                {
                    "name": "multidomain presynaptic cytomatrix protein",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pclo",
                    "type": "recommended"
                },
                {
                    "name": "Acz",
                    "type": "synonym"
                },
                {
                    "name": "Pclo",
                    "type": "synonym"
                },
                {
                    "name": "Pico",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYX7-1",
            "evidence": [
                {
                    "id": "0060272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6V0-5",
            "uniprot_ac": "Q9Y6V0",
            "uniprot_id": "PCLO_HUMAN",
            "refseq_ac": "NP_055325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein piccolo",
                    "type": "recommended"
                },
                {
                    "name": "Aczonin",
                    "type": "synonym"
                },
                {
                    "name": "aczonin",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCLO",
                    "type": "recommended"
                },
                {
                    "name": "ACZ",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0559",
                    "type": "synonym"
                },
                {
                    "name": "PCH3",
                    "type": "synonym"
                },
                {
                    "name": "PCLO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6V0-5",
            "evidence": [
                {
                    "id": "608027",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608027"
                },
                {
                    "id": "0060272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKS6-1",
            "uniprot_ac": "Q9JKS6",
            "uniprot_id": "PCLO_RAT",
            "refseq_ac": "NP_064483",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein piccolo",
                    "type": "recommended"
                },
                {
                    "name": "Aczonin",
                    "type": "synonym"
                },
                {
                    "name": "Multidomain presynaptic cytomatrix protein",
                    "type": "synonym"
                },
                {
                    "name": "multidomain presynaptic cytomatrix protein Piccolo",
                    "type": "synonym"
                },
                {
                    "name": "presynaptic cytomatrix protein",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo-like",
                    "type": "synonym"
                },
                {
                    "name": "protein piccolo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pclo",
                    "type": "recommended"
                },
                {
                    "name": "Pclo",
                    "type": "synonym"
                },
                {
                    "name": "aczonin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKS6-1",
            "evidence": [
                {
                    "id": "0060272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060272"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060272"
}