{
    "disease_id": "DOID:0081443",
    "recommended_name": {
        "id": "DOID:0081443",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081443",
        "name": "Stolerman neurodevelopmental syndrome",
        "description": "A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032790",
            "name": "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0032790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032790",
            "name": "NEDCFSA",
            "description": ""
        },
        {
            "id": "MIM:618505",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618505",
            "name": "Stolerman neurodevelopmental syndrome",
            "description": "Stolerman neurodevelopmental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081443"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081443",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081443",
            "categories": []
        },
        {
            "id": "MONDO:0032790",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032790",
            "categories": []
        },
        {
            "id": "MIM:618505",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618505",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AU53-1",
            "uniprot_ac": "A0A8M3AU53",
            "uniprot_id": "A0A8M3AU53_DANRE",
            "refseq_ac": "XP_005172296",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.68",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kdm6ba",
                    "type": "recommended"
                },
                {
                    "name": "kdm6ba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AU53-1",
            "evidence": [
                {
                    "id": "0081443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QGN3-1",
            "uniprot_ac": "A0A8M9QGN3",
            "uniprot_id": "A0A8M9QGN3_DANRE",
            "refseq_ac": "NP_001025349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.68",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain containing 3, histone lysine demethylase",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 6B, b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kdm6bb",
                    "type": "recommended"
                },
                {
                    "name": "jmjd3a",
                    "type": "synonym"
                },
                {
                    "name": "jmjd3",
                    "type": "synonym"
                },
                {
                    "name": "kdm6bb",
                    "type": "synonym"
                },
                {
                    "name": "kdm6b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-237l4.7",
                    "type": "synonym"
                },
                {
                    "name": "zC237L4.7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QGN3-1",
            "evidence": [
                {
                    "id": "0081443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5NCY0-1",
            "uniprot_ac": "Q5NCY0",
            "uniprot_id": "KDM6B_MOUSE",
            "refseq_ac": "NP_001017426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 6B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.68",
                    "type": "synonym"
                },
                {
                    "name": "JmjC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase 6B",
                    "type": "synonym"
                },
                {
                    "name": "jmjC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdm6b",
                    "type": "recommended"
                },
                {
                    "name": "1700064E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Jmjd3",
                    "type": "synonym"
                },
                {
                    "name": "Kdm6b",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0346",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NCY0-1",
            "evidence": [
                {
                    "id": "0081443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15054-2",
            "uniprot_ac": "O15054",
            "uniprot_id": "KDM6B_HUMAN",
            "refseq_ac": "NP_001073893",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 6B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.68",
                    "type": "synonym"
                },
                {
                    "name": "JmjC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Lysine demethylase 6B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase 6B",
                    "type": "synonym"
                },
                {
                    "name": "jmjC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain containing 3, histone lysine demethylase",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 6B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KDM6B",
                    "type": "recommended"
                },
                {
                    "name": "JMJD3",
                    "type": "synonym"
                },
                {
                    "name": "KDM6B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0346",
                    "type": "synonym"
                },
                {
                    "name": "NEDCFSA",
                    "type": "synonym"
                },
                {
                    "name": "NEDSST",
                    "type": "synonym"
                }
            ],
            "record_id": "O15054-2",
            "evidence": [
                {
                    "id": "618505",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618505"
                },
                {
                    "id": "0081443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14922-1",
            "uniprot_ac": "P14922",
            "uniprot_id": "CYC8_YEAST",
            "refseq_ac": "NP_009670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcriptional corepressor CYC8",
                    "type": "recommended"
                },
                {
                    "name": "Glucose repression mediator protein CYC8",
                    "type": "synonym"
                },
                {
                    "name": "transcription regulator CYC8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYC8",
                    "type": "recommended"
                },
                {
                    "name": "CRT8",
                    "type": "synonym"
                },
                {
                    "name": "CYC8",
                    "type": "synonym"
                },
                {
                    "name": "SSN6",
                    "type": "synonym"
                },
                {
                    "name": "YBR0908",
                    "type": "synonym"
                }
            ],
            "record_id": "P14922-1",
            "evidence": [
                {
                    "id": "0081443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AFH2-1",
            "uniprot_ac": "A0A8I6AFH2",
            "uniprot_id": "A0A8I6AFH2_RAT",
            "refseq_ac": "NP_001388879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 6B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.68",
                    "type": "synonym"
                },
                {
                    "name": "JmjC domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase 6B",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain-containing 3",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 6B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdm6b",
                    "type": "recommended"
                },
                {
                    "name": "Jmjd3",
                    "type": "synonym"
                },
                {
                    "name": "Kdm6b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AFH2-1",
            "evidence": [
                {
                    "id": "0081443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL07-1",
            "uniprot_ac": "Q9VL07",
            "uniprot_id": "Q9VL07_DROME",
            "refseq_ac": "NP_609368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.14.11.68",
                    "type": "synonym"
                },
                {
                    "name": "CG5640-PA",
                    "type": "synonym"
                },
                {
                    "name": "Utx histone demethylase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Utx-PA",
                    "type": "synonym"
                },
                {
                    "name": "anon-31BCa",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously transcribed X chromosome tetratricopeptide repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously transcribed tetratricopetide repeat gene on the X chromosome",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Utx",
                    "type": "recommended"
                },
                {
                    "name": "CG5640",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5640",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5640",
                    "type": "synonym"
                },
                {
                    "name": "UTX",
                    "type": "synonym"
                },
                {
                    "name": "Utx",
                    "type": "synonym"
                },
                {
                    "name": "anon-31BCa",
                    "type": "synonym"
                },
                {
                    "name": "dUTX",
                    "type": "synonym"
                },
                {
                    "name": "dUtx",
                    "type": "synonym"
                },
                {
                    "name": "utx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL07-1",
            "evidence": [
                {
                    "id": "0081443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081443"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081443"
}