{
    "disease_id": "DOID:0081099",
    "recommended_name": {
        "id": "DOID:0081099",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081099",
        "name": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081099",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081099",
            "name": "autosomal recessive mental retardation 36",
            "description": ""
        },
        {
            "id": "MONDO:0014119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "name": "intellectual disability-strabismus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "name": "intellectual disability, autosomal recessive type 36",
            "description": ""
        },
        {
            "id": "MONDO:0014119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "name": "mental retardation, autosomal recessive type 36",
            "description": ""
        },
        {
            "id": "MONDO:0014119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "name": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0014119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "name": "MRT36",
            "description": ""
        },
        {
            "id": "MONDO:0014119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "name": "intellectual disability, autosomal recessive 36",
            "description": ""
        },
        {
            "id": "MONDO:0014119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "name": "mental retardation, autosomal recessive 36",
            "description": ""
        },
        {
            "id": "MIM:615286",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615286",
            "name": "Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies",
            "description": "Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081099"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081099",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081099",
            "categories": []
        },
        {
            "id": "MONDO:0014119",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014119",
            "categories": []
        },
        {
            "id": "MIM:615286",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615286",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8JFW4-1",
            "uniprot_ac": "Q8JFW4",
            "uniprot_id": "ADAT3_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit adat3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "adat3",
                    "type": "recommended"
                },
                {
                    "name": "si:busm1-72b14.5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-204g5.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dz72b14.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103555",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JFW4-1",
            "evidence": [
                {
                    "id": "0081099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PAT0-1",
            "uniprot_ac": "Q6PAT0",
            "uniprot_id": "ADAT3_MOUSE",
            "refseq_ac": "NP_001094076",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3",
                    "type": "recommended"
                },
                {
                    "name": "adenosine deaminase, tRNA-specific 3, TAD2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "probable inactive tRNA-specific adenosine deaminase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine deaminase 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine deaminase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine-34 deaminase subunit ADAT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adat3",
                    "type": "recommended"
                },
                {
                    "name": "A430024H01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Adat3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PAT0-1",
            "evidence": [
                {
                    "id": "0081099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EY9-1",
            "uniprot_ac": "Q96EY9",
            "uniprot_id": "ADAT3_HUMAN",
            "refseq_ac": "NP_001316462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3",
                    "type": "recommended"
                },
                {
                    "name": "adenosine deaminase, tRNA-specific 3, TAD3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "probable inactive tRNA-specific adenosine deaminase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine-34 deaminase subunit ADAT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAT3",
                    "type": "recommended"
                },
                {
                    "name": "ADAT3",
                    "type": "synonym"
                },
                {
                    "name": "FWP005",
                    "type": "synonym"
                },
                {
                    "name": "MRT36",
                    "type": "synonym"
                },
                {
                    "name": "MST121",
                    "type": "synonym"
                },
                {
                    "name": "MSTP121",
                    "type": "synonym"
                },
                {
                    "name": "NEDBGF",
                    "type": "synonym"
                },
                {
                    "name": "S863-5",
                    "type": "synonym"
                },
                {
                    "name": "TAD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EY9-1",
            "evidence": [
                {
                    "id": "615286",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615286"
                },
                {
                    "id": "0081099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9URQ3-1",
            "uniprot_ac": "Q9URQ3",
            "uniprot_id": "ADAT3_YEAST",
            "refseq_ac": "NP_013420",
            "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": "tRNA-specific adenosine-34 deaminase regulatory subunit TAD3",
                    "type": "recommended"
                },
                {
                    "name": "Tad3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAD3",
                    "type": "recommended"
                },
                {
                    "name": "TAD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9URQ3-1",
            "evidence": [
                {
                    "id": "0081099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081099"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q561R2-1",
            "uniprot_ac": "Q561R2",
            "uniprot_id": "ADAT3_RAT",
            "refseq_ac": "NP_001096831",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3",
                    "type": "recommended"
                },
                {
                    "name": "adenosine deaminase, tRNA-specific 3, TAD3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "probable inactive tRNA-specific adenosine deaminase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine deaminase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-specific adenosine-34 deaminase subunit ADAT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adat3",
                    "type": "recommended"
                },
                {
                    "name": "Adat3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q561R2-1",
            "evidence": [
                {
                    "id": "0081099",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081099"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081099"
}