{
    "disease_id": "DOID:0060276",
    "recommended_name": {
        "id": "DOID:0060276",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060276",
        "name": "pontocerebellar hypoplasia type 7",
        "description": "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013993",
            "name": "pontocerebellar hypoplasia type 7",
            "description": "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype."
        },
        {
            "id": "MONDO:0013993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013993",
            "name": "PCH7",
            "description": ""
        },
        {
            "id": "MONDO:0013993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013993",
            "name": "TOE1 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013993",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1",
            "description": ""
        },
        {
            "id": "MONDO:0013993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013993",
            "name": "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013993",
            "name": "pontocerebellar hypoplasia, type 7",
            "description": ""
        },
        {
            "id": "MIM:614969",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614969",
            "name": "Pontocerebellar hypoplasia 7",
            "description": "Pontocerebellar hypoplasia 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060276"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060276",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060276",
            "categories": []
        },
        {
            "id": "MONDO:0013993",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013993",
            "categories": []
        },
        {
            "id": "MIM:614969",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614969",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A5U4-1",
            "uniprot_ac": "B8A5U4",
            "uniprot_id": "B8A5U4_DANRE",
            "refseq_ac": "NP_001243611",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of EGR1 protein 1",
                    "type": "recommended"
                },
                {
                    "name": "target of EGR1 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of EGR1, member 1 (nuclear)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "toe1",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-40i22.3",
                    "type": "synonym"
                },
                {
                    "name": "toe1",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5U4-1",
            "evidence": [
                {
                    "id": "0060276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D2E2-1",
            "uniprot_ac": "Q9D2E2",
            "uniprot_id": "TOE1_MOUSE",
            "refseq_ac": "NP_080930",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of EGR1 protein 1",
                    "type": "recommended"
                },
                {
                    "name": "target of EGR1 protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "target of EGR1 protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Toe1",
                    "type": "recommended"
                },
                {
                    "name": "4930584N22Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933424D16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Toe1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D2E2-1",
            "evidence": [
                {
                    "id": "0060276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96GM8-1",
            "uniprot_ac": "Q96GM8",
            "uniprot_id": "TOE1_HUMAN",
            "refseq_ac": "NP_079353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of EGR1 protein 1",
                    "type": "recommended"
                },
                {
                    "name": "target of EGR1 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of EGR1, member 1 (nuclear)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOE1",
                    "type": "recommended"
                },
                {
                    "name": "PCH7",
                    "type": "synonym"
                },
                {
                    "name": "TOE-1",
                    "type": "synonym"
                },
                {
                    "name": "TOE1",
                    "type": "synonym"
                },
                {
                    "name": "hCaf1z",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96GM8-1",
            "evidence": [
                {
                    "id": "614969",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614969"
                },
                {
                    "id": "0060276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JZE8-1",
            "uniprot_ac": "A0A0G2JZE8",
            "uniprot_id": "A0A0G2JZE8_RAT",
            "refseq_ac": "NP_001385980",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of EGR1 protein 1",
                    "type": "recommended"
                },
                {
                    "name": "target of EGR1 protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "target of EGR1 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of EGR1, member 1 (nuclear)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Toe1",
                    "type": "recommended"
                },
                {
                    "name": "Toe1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JZE8-1",
            "evidence": [
                {
                    "id": "0060276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060276"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060276"
}