{
    "disease_id": "DOID:0080539",
    "recommended_name": {
        "id": "DOID:0080539",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080539",
        "name": "PEHO syndrome",
        "description": "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss."
    },
    "synonyms": [
        {
            "id": "MONDO:0009841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009841",
            "name": "PEHO syndrome",
            "description": "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies."
        },
        {
            "id": "MONDO:0009841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009841",
            "name": "peho syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009841",
            "name": "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009841",
            "name": "progressive encephalopathy-optic atrophy syndrome",
            "description": ""
        },
        {
            "id": "MIM:260565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260565",
            "name": "PEHO syndrome",
            "description": "PEHO syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080539"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080539",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080539",
            "categories": []
        },
        {
            "id": "MONDO:0009841",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009841",
            "categories": []
        },
        {
            "id": "MIM:260565",
            "database": "MIM",
            "url": "https://www.omim.org/entry/260565",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CQK1-1",
            "uniprot_ac": "Q9CQK1",
            "uniprot_id": "ZNHI3_MOUSE",
            "refseq_ac": "NP_001005223",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger HIT domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "TR-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-3",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor interactor 3",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin head domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor interactor 3",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT domain-containing protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Znhit3",
                    "type": "recommended"
                },
                {
                    "name": "Myohd1",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-3",
                    "type": "synonym"
                },
                {
                    "name": "Trip3",
                    "type": "synonym"
                },
                {
                    "name": "Znhit3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQK1-1",
            "evidence": [
                {
                    "id": "0080539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080539"
                }
            ]
        },
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            "uniprot_canonical_ac": "P05017-1",
            "uniprot_ac": "P05017",
            "uniprot_id": "IGF1_MOUSE",
            "refseq_ac": "NP_001104745",
            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Insulin-like growth factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "Somatomedin",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 isoform 4 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "somatomedin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igf1",
                    "type": "recommended"
                },
                {
                    "name": "C730016P09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Igf-1",
                    "type": "synonym"
                },
                {
                    "name": "Igf-I",
                    "type": "synonym"
                },
                {
                    "name": "Igf1",
                    "type": "synonym"
                }
            ],
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                    "id": "0080539",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15649-1",
            "uniprot_ac": "Q15649",
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            "refseq_ac": "NP_001268361",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger HIT domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "HNF-4a coactivator",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-3",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor interactor 3",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor interactor 3",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT domain-containing protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, HIT domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, HIT type 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNHIT3",
                    "type": "recommended"
                },
                {
                    "name": "Hit1",
                    "type": "synonym"
                },
                {
                    "name": "PEHO",
                    "type": "synonym"
                },
                {
                    "name": "TRIP3",
                    "type": "synonym"
                },
                {
                    "name": "ZNHIT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15649-1",
            "evidence": [
                {
                    "id": "260565",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/260565"
                },
                {
                    "id": "0080539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46973-1",
            "uniprot_ac": "P46973",
            "uniprot_id": "HIT1_YEAST",
            "refseq_ac": "NP_012589",
            "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": "Protein HIT1",
                    "type": "recommended"
                },
                {
                    "name": "Hit1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HIT1",
                    "type": "recommended"
                },
                {
                    "name": "HIT1",
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                },
                {
                    "name": "J1705",
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            ],
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            "evidence": [
                {
                    "id": "0080539",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSN4-1",
            "uniprot_ac": "Q7TSN4",
            "uniprot_id": "PIGW_RAT",
            "refseq_ac": "NP_919443",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosaminyl-phosphatidylinositol-acyltransferase PIGW",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GlcN-PI-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "PIG-W",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                },
                {
                    "name": "glcN-PI-acyltransferase",
                    "type": "synonym"
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                {
                    "name": "glucosaminyl-phosphatidylinositol- acyltransferase PIGW",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class W",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pigw",
                    "type": "recommended"
                },
                {
                    "name": "Pigw",
                    "type": "synonym"
                },
                {
                    "name": "Znhit3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08025-1",
            "uniprot_ac": "P08025",
            "uniprot_id": "IGF1_RAT",
            "refseq_ac": "NP_001075946",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like growth factor 1",
                    "type": "recommended"
                },
                {
                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "Somatomedin",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "somatomedin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Igf1",
                    "type": "recommended"
                },
                {
                    "name": "IGF",
                    "type": "synonym"
                },
                {
                    "name": "Igf-1",
                    "type": "synonym"
                },
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                    "name": "Igf1",
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                {
                    "id": "0080539",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZA28-1",
            "uniprot_ac": "A1ZA28",
            "uniprot_id": "A1ZA28_DROME",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "HIT-type domain-containing protein",
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                {
                    "name": "CG8204-PB",
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                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dmel\\CG8204",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT23078",
                    "type": "synonym"
                },
                {
                    "name": "CG8204",
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                },
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                    "name": "Dmel\\CG8204",
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                {
                    "name": "Dmel_CG8204",
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                {
                    "id": "0080539",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05019-1",
            "uniprot_ac": "P05019",
            "uniprot_id": "IGF1_HUMAN",
            "refseq_ac": "NP_000609",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Insulin-like growth factor 1",
                    "type": "recommended"
                },
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                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor I",
                    "type": "synonym"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                },
                {
                    "name": "Mechano growth factor",
                    "type": "synonym"
                },
                {
                    "name": "Somatomedin-C",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 (somatomedin C)",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor 1 isoform 4 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor IB",
                    "type": "synonym"
                },
                {
                    "name": "mechano growth factor",
                    "type": "synonym"
                },
                {
                    "name": "somatomedin-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGF1",
                    "type": "recommended"
                },
                {
                    "name": "IBP1",
                    "type": "synonym"
                },
                {
                    "name": "IGF-1",
                    "type": "synonym"
                },
                {
                    "name": "IGF-I",
                    "type": "synonym"
                },
                {
                    "name": "IGF1",
                    "type": "synonym"
                },
                {
                    "name": "IGFI",
                    "type": "synonym"
                },
                {
                    "name": "IGF",
                    "type": "synonym"
                },
                {
                    "name": "MGF",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080539"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080539"
}