{
    "disease_id": "DOID:0070061",
    "recommended_name": {
        "id": "DOID:0070061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070061",
        "name": "autosomal dominant intellectual developmental disorder 31",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070061",
            "name": "MRD31",
            "description": ""
        },
        {
            "id": "DOID:0070061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070061",
            "name": "autosomal dominant mental retardation 31",
            "description": ""
        },
        {
            "id": "DOID:0070061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070061",
            "name": "autosomal dominant non-syndromic intellectual disability 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",
            "description": "A rare, genetic neurological disease in which the cause of the disease is a point mutation in the PURA gene. It is typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy."
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "MRD31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "PURA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "autosomal dominant intellectual disability 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "intellectual disability, autosomal dominant type 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "mental retardation, autosomal dominant type 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "intellectual disability, autosomal dominant 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "mental retardation, autosomal dominant 31",
            "description": ""
        },
        {
            "id": "MIM:616158",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616158",
            "name": "Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties",
            "description": "Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070061"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070061",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070061",
            "categories": []
        },
        {
            "id": "MONDO:0014512",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "categories": []
        },
        {
            "id": "MIM:616158",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616158",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4I9N0-1",
            "uniprot_ac": "A0A0R4I9N0",
            "uniprot_id": "A0A0R4I9N0_DANRE",
            "refseq_ac": "XP_005157218",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional activator protein Pur-alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional activator protein Pur-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "purab",
                    "type": "recommended"
                },
                {
                    "name": "purab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4I9N0-1",
            "evidence": [
                {
                    "id": "0070061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42669-1",
            "uniprot_ac": "P42669",
            "uniprot_id": "PURA_MOUSE",
            "refseq_ac": "NP_033015",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional activator protein Pur-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Purine-rich single-stranded DNA-binding protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "purine-rich single-stranded DNA-binding protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional activator protein Pur-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pura",
                    "type": "recommended"
                },
                {
                    "name": "6330411E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "CAGER-1",
                    "type": "synonym"
                },
                {
                    "name": "Pur-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Pura",
                    "type": "synonym"
                },
                {
                    "name": "ssCRE-BP",
                    "type": "synonym"
                }
            ],
            "record_id": "P42669-1",
            "evidence": [
                {
                    "id": "0070061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00577-1",
            "uniprot_ac": "Q00577",
            "uniprot_id": "PURA_HUMAN",
            "refseq_ac": "NP_005850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional activator protein Pur-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Purine-rich single-stranded DNA-binding protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "purine-rich single-stranded DNA-binding protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional activator protein Pur-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PURA",
                    "type": "recommended"
                },
                {
                    "name": "MRD31",
                    "type": "synonym"
                },
                {
                    "name": "NEDRIHF",
                    "type": "synonym"
                },
                {
                    "name": "PUR-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "PUR1",
                    "type": "synonym"
                },
                {
                    "name": "PURALPHA",
                    "type": "synonym"
                },
                {
                    "name": "PURA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00577-1",
            "evidence": [
                {
                    "id": "616158",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616158"
                },
                {
                    "id": "0070061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86252-1",
            "uniprot_ac": "P86252",
            "uniprot_id": "PURA_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional activator protein Pur-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Purine-rich single-stranded DNA-binding protein alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pura",
                    "type": "recommended"
                }
            ],
            "record_id": "P86252-1",
            "evidence": [
                {
                    "id": "0070061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4D9-1",
            "uniprot_ac": "Q9V4D9",
            "uniprot_id": "Q9V4D9_DROME",
            "refseq_ac": "NP_001259062",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG1507-PF",
                    "type": "synonym"
                },
                {
                    "name": "Pur-alpha-PF",
                    "type": "synonym"
                },
                {
                    "name": "Purine-rich binding protein-alpha, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Purine-rich binding protein-alpha, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pur-alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG1507",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1507",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1507",
                    "type": "synonym"
                },
                {
                    "name": "PURalpha",
                    "type": "synonym"
                },
                {
                    "name": "Pur alpha",
                    "type": "synonym"
                },
                {
                    "name": "Pur-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Pur-a",
                    "type": "synonym"
                },
                {
                    "name": "Puralpha",
                    "type": "synonym"
                },
                {
                    "name": "dPur alpha",
                    "type": "synonym"
                },
                {
                    "name": "pur-alpha",
                    "type": "synonym"
                },
                {
                    "name": "purA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4D9-1",
            "evidence": [
                {
                    "id": "0070061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070061"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070061"
}