{
    "disease_id": "DOID:0070514",
    "recommended_name": {
        "id": "DOID:0070514",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070514",
        "name": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies",
        "description": "An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070514",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070514",
            "name": "NEDDFL",
            "description": ""
        },
        {
            "id": "MONDO:0060596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060596",
            "name": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0060596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060596",
            "name": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0060596",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060596",
            "name": "NEDDFL",
            "description": ""
        },
        {
            "id": "MIM:617755",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617755",
            "name": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies",
            "description": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070514"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070514",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070514",
            "categories": []
        },
        {
            "id": "MONDO:0060596",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060596",
            "categories": []
        },
        {
            "id": "MIM:617755",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617755",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AQI5-1",
            "uniprot_ac": "A0A8M3AQI5",
            "uniprot_id": "A0A8M3AQI5_DANRE",
            "refseq_ac": "XP_009297692",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleosome-remodeling factor subunit BPTF isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome-remodeling factor subunit BPTF isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bptf",
                    "type": "recommended"
                },
                {
                    "name": "bptf",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AQI5-1",
            "evidence": [
                {
                    "id": "0070514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A654-1",
            "uniprot_ac": "A2A654",
            "uniprot_id": "A2A654_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain PHD finger transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bptf",
                    "type": "recommended"
                }
            ],
            "record_id": "A2A654-1",
            "evidence": [
                {
                    "id": "0070514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12830-1",
            "uniprot_ac": "Q12830",
            "uniprot_id": "BPTF_HUMAN",
            "refseq_ac": "NP_004450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleosome-remodeling factor subunit BPTF",
                    "type": "recommended"
                },
                {
                    "name": "Bromodomain and PHD finger-containing transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "Fetal Alz-50 clone 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Fetal Alzheimer antigen",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain and PHD domain transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "bromodomain and PHD finger-containing transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "fetal Alz-50 clone 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "fetal Alz-50 reactive clone 1",
                    "type": "synonym"
                },
                {
                    "name": "fetal Alzheimer antigen",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome remodeling factor, large subunit",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome-remodeling factor subunit BPTF isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome-remodeling factor subunit BPTF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BPTF",
                    "type": "recommended"
                },
                {
                    "name": "BPTF",
                    "type": "synonym"
                },
                {
                    "name": "FAC1",
                    "type": "synonym"
                },
                {
                    "name": "FALZ",
                    "type": "synonym"
                },
                {
                    "name": "NEDDFL",
                    "type": "synonym"
                },
                {
                    "name": "NURF301",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12830-1",
            "evidence": [
                {
                    "id": "617755",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617755"
                },
                {
                    "id": "0070514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZVH2-1",
            "uniprot_ac": "A0A8I5ZVH2",
            "uniprot_id": "A0A8I5ZVH2_RAT",
            "refseq_ac": "NP_001121007",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bromodomain PHD finger transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "fetal Alzheimer antigen",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome-remodeling factor subunit BPTF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bptf",
                    "type": "recommended"
                },
                {
                    "name": "Bptf",
                    "type": "synonym"
                },
                {
                    "name": "Falz",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZVH2-1",
            "evidence": [
                {
                    "id": "0070514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070514"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0T1-1",
            "uniprot_ac": "Q9W0T1",
            "uniprot_id": "NU301_DROME",
            "refseq_ac": "NP_001163304",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleosome-remodeling factor subunit NURF301",
                    "type": "recommended"
                },
                {
                    "name": "CG32346-PE",
                    "type": "synonym"
                },
                {
                    "name": "E(bx)-PE",
                    "type": "synonym"
                },
                {
                    "name": "Enhancer of bithorax",
                    "type": "synonym"
                },
                {
                    "name": "NURF-215",
                    "type": "synonym"
                },
                {
                    "name": "Nucleosome-remodeling factor 215 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of bithorax, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome remodeling factor - 215kD",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome remodeling factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "E(bx)",
                    "type": "recommended"
                },
                {
                    "name": "CG10894",
                    "type": "synonym"
                },
                {
                    "name": "CG17135",
                    "type": "synonym"
                },
                {
                    "name": "CG32346",
                    "type": "synonym"
                },
                {
                    "name": "CG32478",
                    "type": "synonym"
                },
                {
                    "name": "CG7022",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32346",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32346",
                    "type": "synonym"
                },
                {
                    "name": "E(BX)",
                    "type": "synonym"
                },
                {
                    "name": "E(Bx)",
                    "type": "synonym"
                },
                {
                    "name": "E(bx)",
                    "type": "synonym"
                },
                {
                    "name": "Ebx",
                    "type": "synonym"
                },
                {
                    "name": "En-bx",
                    "type": "synonym"
                },
                {
                    "name": "NURF 215",
                    "type": "synonym"
                },
                {
                    "name": "NURF-215",
                    "type": "synonym"
                },
                {
                    "name": "NURF-301",
                    "type": "synonym"
                },
                {
                    "name": "NURF215",
                    "type": "synonym"
                },
                {
                    "name": "NURF301",
                    "type": "synonym"
                },
                {
                    "name": "NURF",
                    "type": "synonym"
                },
                {
                    "name": "NuRF301",
                    "type": "synonym"
                },
                {
                    "name": "Nurf 301",
                    "type": "synonym"
                },
                {
                    "name": "Nurf-215",
                    "type": "synonym"
                },
                {
                    "name": "Nurf301",
                    "type": "synonym"
                },
                {
                    "name": "Nurf",
                    "type": "synonym"
                },
                {
                    "name": "dNURF301",
                    "type": "synonym"
                },
                {
                    "name": "dNURF",
                    "type": "synonym"
                },
                {
                    "name": "e(Bx)",
                    "type": "synonym"
                },
                {
                    "name": "e(bx)",
                    "type": "synonym"
                },
                {
                    "name": "l(3)122",
                    "type": "synonym"
                },
                {
                    "name": "l(3)ry122",
                    "type": "synonym"
                },
                {
                    "name": "nurf301",
                    "type": "synonym"
                },
                {
                    "name": "p215",
                    "type": "synonym"
                },
                {
                    "name": "p301",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0T1-1",
            "evidence": [
                {
                    "id": "0070514",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070514"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070514"
}