{
    "disease_id": "DOID:0060277",
    "recommended_name": {
        "id": "DOID:0060277",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060277",
        "name": "pontocerebellar hypoplasia type 8",
        "description": "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia type 8",
            "description": "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum."
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "CHMP1A non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "PCH8",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia due to CHMP1A mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "name": "pontocerebellar hypoplasia, type 8",
            "description": ""
        },
        {
            "id": "MIM:614961",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614961",
            "name": "Pontocerebellar hypoplasia 8",
            "description": "Pontocerebellar hypoplasia 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060277"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060277",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060277",
            "categories": []
        },
        {
            "id": "MONDO:0013990",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013990",
            "categories": []
        },
        {
            "id": "MIM:614961",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614961",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PHF0-1",
            "uniprot_ac": "Q6PHF0",
            "uniprot_id": "CHM1A_DANRE",
            "refseq_ac": "NP_956857",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 1a",
                    "type": "recommended"
                },
                {
                    "name": "CHMP1a",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-modifying protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "procollagen (type III) N-endopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chmp1a",
                    "type": "recommended"
                },
                {
                    "name": "KM0004",
                    "type": "synonym"
                },
                {
                    "name": "chmp1a",
                    "type": "synonym"
                },
                {
                    "name": "km0004",
                    "type": "synonym"
                },
                {
                    "name": "pcoln3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb50a12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65914",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85863",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PHF0-1",
            "evidence": [
                {
                    "id": "0060277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921W0-1",
            "uniprot_ac": "Q921W0",
            "uniprot_id": "CHM1A_MOUSE",
            "refseq_ac": "NP_663581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 1a",
                    "type": "recommended"
                },
                {
                    "name": "CHMP1a",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-modifying protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "procollagen (type III) N-endopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chmp1a",
                    "type": "recommended"
                },
                {
                    "name": "2900018H07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Chmp1a",
                    "type": "synonym"
                },
                {
                    "name": "Chmp1",
                    "type": "synonym"
                },
                {
                    "name": "Pcoln3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921W0-1",
            "evidence": [
                {
                    "id": "0060277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HD42-1",
            "uniprot_ac": "Q9HD42",
            "uniprot_id": "CHM1A_HUMAN",
            "refseq_ac": "NP_002759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 1a",
                    "type": "recommended"
                },
                {
                    "name": "CHMP1a",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "VPS46 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 46-1",
                    "type": "synonym"
                },
                {
                    "name": "Vps46-1",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 1/chromatin modifying protein 1",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 1a isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 1A",
                    "type": "synonym"
                },
                {
                    "name": "hVps46-1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen (type III) N-endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "protease, metallo, 1, 33kD",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 46-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHMP1A",
                    "type": "recommended"
                },
                {
                    "name": "CHMP1A",
                    "type": "synonym"
                },
                {
                    "name": "CHMP1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0047",
                    "type": "synonym"
                },
                {
                    "name": "PCH8",
                    "type": "synonym"
                },
                {
                    "name": "PCOLN3",
                    "type": "synonym"
                },
                {
                    "name": "PRSM1",
                    "type": "synonym"
                },
                {
                    "name": "VPS46-1",
                    "type": "synonym"
                },
                {
                    "name": "VPS46A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HD42-1",
            "evidence": [
                {
                    "id": "614961",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614961"
                },
                {
                    "id": "0060277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P69771-1",
            "uniprot_ac": "P69771",
            "uniprot_id": "DID2_YEAST",
            "refseq_ac": "NP_012961",
            "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": "Vacuolar protein-sorting-associated protein 46",
                    "type": "recommended"
                },
                {
                    "name": "Charged multivesicular body protein 1",
                    "type": "synonym"
                },
                {
                    "name": "DOA4-independent degradation protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Did2p",
                    "type": "synonym"
                },
                {
                    "name": "Fifty two inhibitor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DID2",
                    "type": "recommended"
                },
                {
                    "name": "CHM1",
                    "type": "synonym"
                },
                {
                    "name": "DID2",
                    "type": "synonym"
                },
                {
                    "name": "FTI1",
                    "type": "synonym"
                },
                {
                    "name": "VPL30",
                    "type": "synonym"
                },
                {
                    "name": "VPS46",
                    "type": "synonym"
                }
            ],
            "record_id": "P69771-1",
            "evidence": [
                {
                    "id": "0060277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GLB8-1",
            "uniprot_ac": "A0A8I6GLB8",
            "uniprot_id": "A0A8I6GLB8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chmp1a",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GLB8-1",
            "evidence": [
                {
                    "id": "0060277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060277"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060277"
}