{
    "disease_id": "DOID:0060278",
    "recommended_name": {
        "id": "DOID:0060278",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060278",
        "name": "pontocerebellar hypoplasia type 9",
        "description": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014351",
            "name": "pontocerebellar hypoplasia type 9",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene."
        },
        {
            "id": "MONDO:0014351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014351",
            "name": "AMPD2 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014351",
            "name": "PCH9",
            "description": ""
        },
        {
            "id": "MONDO:0014351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014351",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2",
            "description": ""
        },
        {
            "id": "MONDO:0014351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014351",
            "name": "pontocerebellar hypoplasia, type 9",
            "description": ""
        },
        {
            "id": "MIM:615809",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615809",
            "name": "Pontocerebellar hypoplasia 9",
            "description": "Pontocerebellar hypoplasia 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060278"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060278",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060278",
            "categories": []
        },
        {
            "id": "MONDO:0014351",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014351",
            "categories": []
        },
        {
            "id": "MIM:615809",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615809",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1REB8-1",
            "uniprot_ac": "A0A8M1REB8",
            "uniprot_id": "A0A8M1REB8_DANRE",
            "refseq_ac": "XP_002666175",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ampd2a",
                    "type": "recommended"
                },
                {
                    "name": "ampd2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1REB8-1",
            "evidence": [
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AV69-1",
            "uniprot_ac": "A0A8M3AV69",
            "uniprot_id": "A0A8M3AV69_DANRE",
            "refseq_ac": "XP_009302285",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ampd2b",
                    "type": "recommended"
                },
                {
                    "name": "ampd2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AV69-1",
            "evidence": [
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBT5-2",
            "uniprot_ac": "Q9DBT5",
            "uniprot_id": "AMPD2_MOUSE",
            "refseq_ac": "NP_001276648",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase isoform L",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate deaminase 2 (isoform L)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ampd2",
                    "type": "recommended"
                },
                {
                    "name": "1200014F01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ampd-2",
                    "type": "synonym"
                },
                {
                    "name": "Ampd2",
                    "type": "synonym"
                },
                {
                    "name": "m4521Dajl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBT5-2",
            "evidence": [
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01433-1",
            "uniprot_ac": "Q01433",
            "uniprot_id": "AMPD2_HUMAN",
            "refseq_ac": "NP_001244290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase isoform L",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate deaminase 2 (isoform L)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMPD2",
                    "type": "recommended"
                },
                {
                    "name": "AMPD2",
                    "type": "synonym"
                },
                {
                    "name": "AMPD",
                    "type": "synonym"
                },
                {
                    "name": "PCH9",
                    "type": "synonym"
                },
                {
                    "name": "SPG63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01433-1",
            "evidence": [
                {
                    "id": "615809",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615809"
                },
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15274-1",
            "uniprot_ac": "P15274",
            "uniprot_id": "AMPD_YEAST",
            "refseq_ac": "NP_013677",
            "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": "AMP deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase",
                    "type": "synonym"
                },
                {
                    "name": "Myoadenylate deaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMD1",
                    "type": "recommended"
                },
                {
                    "name": "AMD1",
                    "type": "synonym"
                },
                {
                    "name": "AMD3",
                    "type": "synonym"
                },
                {
                    "name": "AMD",
                    "type": "synonym"
                }
            ],
            "record_id": "P15274-1",
            "evidence": [
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40361-1",
            "uniprot_ac": "P40361",
            "uniprot_id": "YJH0_YEAST",
            "refseq_ac": "NP_012465",
            "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": "Inactive deaminase YJL070C",
                    "type": "recommended"
                },
                {
                    "name": "metallo-dependent hydrolase superfamily protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HRD888",
                    "type": "synonym"
                },
                {
                    "name": "J1095",
                    "type": "synonym"
                }
            ],
            "record_id": "P40361-1",
            "evidence": [
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02356-1",
            "uniprot_ac": "Q02356",
            "uniprot_id": "AMPD2_RAT",
            "refseq_ac": "NP_001095151",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase isoform L",
                    "type": "synonym"
                },
                {
                    "name": "adenosine monophosphate deaminase 2 (isoform L)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ampd2",
                    "type": "recommended"
                },
                {
                    "name": "Ampd2",
                    "type": "synonym"
                },
                {
                    "name": "Ampd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02356-1",
            "evidence": [
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JEY5-1",
            "uniprot_ac": "X2JEY5",
            "uniprot_id": "X2JEY5_DROME",
            "refseq_ac": "NP_001285233",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AMP deaminase, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "AMPdeam-PK",
                    "type": "synonym"
                },
                {
                    "name": "CG32626-PK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMPdeam",
                    "type": "recommended"
                },
                {
                    "name": "AMP deam",
                    "type": "synonym"
                },
                {
                    "name": "AMPdeam",
                    "type": "synonym"
                },
                {
                    "name": "CG11058",
                    "type": "synonym"
                },
                {
                    "name": "CG11065",
                    "type": "synonym"
                },
                {
                    "name": "CG15762",
                    "type": "synonym"
                },
                {
                    "name": "CG32626",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32626",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32626",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JEY5-1",
            "evidence": [
                {
                    "id": "0060278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060278"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060278"
}