{
    "disease_id": "DOID:0081227",
    "recommended_name": {
        "id": "DOID:0081227",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081227",
        "name": "autosomal recessive intellectual developmental disorder 66",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032605",
            "name": "intellectual disability, autosomal recessive 66",
            "description": ""
        },
        {
            "id": "MONDO:0032605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032605",
            "name": "intellectual developmental disorder, autosomal recessive 66",
            "description": ""
        },
        {
            "id": "MONDO:0032605",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032605",
            "name": "MRT66",
            "description": ""
        },
        {
            "id": "MIM:618221",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618221",
            "name": "Intellectual developmental disorder, autosomal recessive 66",
            "description": "Intellectual developmental disorder, autosomal recessive 66"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081227"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081227",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081227",
            "categories": []
        },
        {
            "id": "MONDO:0032605",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032605",
            "categories": []
        },
        {
            "id": "MIM:618221",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618221",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91YN0-1",
            "uniprot_ac": "Q91YN0",
            "uniprot_id": "FERY3_MOUSE",
            "refseq_ac": "NP_613060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERRY endosomal RAB5 effector complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "FERRY endosomal RAB5 effector complex subunit 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "protein C12orf4 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D6Wsu163e",
                    "type": "recommended"
                },
                {
                    "name": "Ferry3",
                    "type": "recommended"
                },
                {
                    "name": "C12orf4",
                    "type": "synonym"
                },
                {
                    "name": "D6Wsu163e",
                    "type": "synonym"
                },
                {
                    "name": "Ferry3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YN0-1",
            "evidence": [
                {
                    "id": "0081227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081227"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQ89-1",
            "uniprot_ac": "Q9NQ89",
            "uniprot_id": "FERY3_HUMAN",
            "refseq_ac": "NP_001291740",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ferry endosomal RAB5 effector complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Fy-3",
                    "type": "synonym"
                },
                {
                    "name": "ferry endosomal RAB5 effector complex subunit 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "protein C12orf4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FERRY3",
                    "type": "recommended"
                },
                {
                    "name": "C12orf4",
                    "type": "synonym"
                },
                {
                    "name": "FERRY3",
                    "type": "synonym"
                },
                {
                    "name": "Fy-3",
                    "type": "synonym"
                },
                {
                    "name": "MRT66",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQ89-1",
            "evidence": [
                {
                    "id": "618221",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618221"
                },
                {
                    "id": "0081227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081227"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A770-1",
            "uniprot_ac": "D4A770",
            "uniprot_id": "FERY3_RAT",
            "refseq_ac": "NP_001100093",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FERRY endosomal RAB5 effector complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "FERRY endosomal RAB5 effector complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "protein C12orf4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C12orf4 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ferry3",
                    "type": "recommended"
                },
                {
                    "name": "C4h12orf4",
                    "type": "synonym"
                },
                {
                    "name": "Ferry3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311164",
                    "type": "synonym"
                },
                {
                    "name": "chromosome 12 open reading frame 4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A770-1",
            "evidence": [
                {
                    "id": "0081227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081227"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAU6-1",
            "uniprot_ac": "Q9VAU6",
            "uniprot_id": "Q9VAU6_DROME",
            "refseq_ac": "NP_651623",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9986-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9986",
                    "type": "recommended"
                },
                {
                    "name": "CG9986",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9986",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9986",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAU6-1",
            "evidence": [
                {
                    "id": "0081227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081227"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081227"
}