{
    "disease_id": "DOID:0070469",
    "recommended_name": {
        "id": "DOID:0070469",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070469",
        "name": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070469",
            "name": "NEDDFAC",
            "description": ""
        },
        {
            "id": "MONDO:0859179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859179",
            "name": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MIM:619480",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619480",
            "name": "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",
            "description": "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070469"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070469",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070469",
            "categories": []
        },
        {
            "id": "MONDO:0859179",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859179",
            "categories": []
        },
        {
            "id": "MIM:619480",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619480",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q920B9-1",
            "uniprot_ac": "Q920B9",
            "uniprot_id": "SP16H_MOUSE",
            "refseq_ac": "NP_291096",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FACT complex subunit SPT16",
                    "type": "recommended"
                },
                {
                    "name": "Chromatin-specific transcription elongation factor 140 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "FACT 140 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "FACT complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "FACTp140",
                    "type": "synonym"
                },
                {
                    "name": "Facilitates chromatin transcription complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-specific transcription elongation factor 140 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "facilitates chromatin transcription complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of Ty 16 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Supt16h",
                    "type": "recommended"
                },
                {
                    "name": "Supt16",
                    "type": "recommended"
                },
                {
                    "name": "Cdc68",
                    "type": "synonym"
                },
                {
                    "name": "Fact140",
                    "type": "synonym"
                },
                {
                    "name": "Factp140",
                    "type": "synonym"
                },
                {
                    "name": "Spt16",
                    "type": "synonym"
                },
                {
                    "name": "Supt16h",
                    "type": "synonym"
                },
                {
                    "name": "Supt16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920B9-1",
            "evidence": [
                {
                    "id": "0070469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5B9-1",
            "uniprot_ac": "Q9Y5B9",
            "uniprot_id": "SP16H_HUMAN",
            "refseq_ac": "NP_009123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FACT complex subunit SPT16",
                    "type": "recommended"
                },
                {
                    "name": "Chromatin-specific transcription elongation factor 140 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "FACT 140 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "FACT complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "FACTp140",
                    "type": "synonym"
                },
                {
                    "name": "Facilitates chromatin transcription complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-specific transcription elongation factor 140 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "facilitates chromatin remodeling 140 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "facilitates chromatin transcription complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "hSPT16",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of Ty 16 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SUPT16H",
                    "type": "recommended"
                },
                {
                    "name": "CDC68",
                    "type": "synonym"
                },
                {
                    "name": "FACT140",
                    "type": "synonym"
                },
                {
                    "name": "FACTP140",
                    "type": "synonym"
                },
                {
                    "name": "NEDDFAC",
                    "type": "synonym"
                },
                {
                    "name": "SPT16/CDC68",
                    "type": "synonym"
                },
                {
                    "name": "SPT16",
                    "type": "synonym"
                },
                {
                    "name": "SUPT16H",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5B9-1",
            "evidence": [
                {
                    "id": "619480",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619480"
                },
                {
                    "id": "0070469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32558-1",
            "uniprot_ac": "P32558",
            "uniprot_id": "SPT16_YEAST",
            "refseq_ac": "NP_011308",
            "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": "FACT complex subunit SPT16",
                    "type": "recommended"
                },
                {
                    "name": "Cell division control protein 68",
                    "type": "synonym"
                },
                {
                    "name": "Facilitates chromatin transcription complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of Ty protein 16",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-remodeling protein SPT16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPT16",
                    "type": "recommended"
                },
                {
                    "name": "CDC68",
                    "type": "synonym"
                },
                {
                    "name": "SPT16",
                    "type": "synonym"
                },
                {
                    "name": "SSF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32558-1",
            "evidence": [
                {
                    "id": "0070469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A4J0-1",
            "uniprot_ac": "D4A4J0",
            "uniprot_id": "D4A4J0_RAT",
            "refseq_ac": "NP_001100731",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FACT complex subunit",
                    "type": "recommended"
                },
                {
                    "name": "FACT complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of Ty 16 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Supt16h",
                    "type": "recommended"
                },
                {
                    "name": "Supt16h",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A4J0-1",
            "evidence": [
                {
                    "id": "0070469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRG6-1",
            "uniprot_ac": "Q8IRG6",
            "uniprot_id": "SPT16_DROME",
            "refseq_ac": "NP_476610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "FACT complex subunit spt16",
                    "type": "recommended"
                },
                {
                    "name": "CG1828-PA",
                    "type": "synonym"
                },
                {
                    "name": "Facilitates chromatin transcription complex subunit SPT16",
                    "type": "synonym"
                },
                {
                    "name": "dSPT16",
                    "type": "synonym"
                },
                {
                    "name": "dre4, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "dre4-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)62Bg",
                    "type": "synonym"
                },
                {
                    "name": "supressor of Ty element 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dre4",
                    "type": "recommended"
                },
                {
                    "name": "CG1828",
                    "type": "synonym"
                },
                {
                    "name": "DRE4/dSPT16",
                    "type": "synonym"
                },
                {
                    "name": "DRE4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1828",
                    "type": "synonym"
                },
                {
                    "name": "Dre4",
                    "type": "synonym"
                },
                {
                    "name": "SPT16",
                    "type": "synonym"
                },
                {
                    "name": "Spt16",
                    "type": "synonym"
                },
                {
                    "name": "dSPT16",
                    "type": "synonym"
                },
                {
                    "name": "dSpt16",
                    "type": "synonym"
                },
                {
                    "name": "dre4",
                    "type": "synonym"
                },
                {
                    "name": "dspt16",
                    "type": "synonym"
                },
                {
                    "name": "l(3)62Bg",
                    "type": "synonym"
                },
                {
                    "name": "l(3)dre4",
                    "type": "synonym"
                },
                {
                    "name": "spt16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRG6-1",
            "evidence": [
                {
                    "id": "0070469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070469"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070469"
}