{
    "disease_id": "DOID:0070067",
    "recommended_name": {
        "id": "DOID:0070067",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070067",
        "name": "White-Sutton syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070067",
            "name": "MRD37",
            "description": ""
        },
        {
            "id": "DOID:0070067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070067",
            "name": "WHSUS",
            "description": ""
        },
        {
            "id": "DOID:0070067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070067",
            "name": "autosomal dominant mental retardation 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
            "description": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)."
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "MRD37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "WHSUS",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "autosomal dominant intellectual disability 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "intellectual disability, autosomal dominant type 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "mental retardation, autosomal dominant type 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "intellectual disability, autosomal dominant 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "mental retardation, autosomal dominant 37",
            "description": ""
        },
        {
            "id": "MIM:616364",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616364",
            "name": "White-Sutton syndrome",
            "description": "White-Sutton syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070067"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070067",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070067",
            "categories": []
        },
        {
            "id": "MONDO:0014606",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "categories": []
        },
        {
            "id": "MIM:616364",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616364",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R5F8-1",
            "uniprot_ac": "F1R5F8",
            "uniprot_id": "F1R5F8_DANRE",
            "refseq_ac": "NP_001333153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pogo transposable element with ZNF domain isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein LOC561483",
                    "type": "synonym"
                },
                {
                    "name": "pogo transposable element with ZNF domain b",
                    "type": "synonym"
                },
                {
                    "name": "pogo transposable element with ZNF domain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pogzb",
                    "type": "recommended"
                },
                {
                    "name": "pogzb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R5F8-1",
            "evidence": [
                {
                    "id": "0070067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8E7N7-1",
            "uniprot_ac": "A8E7N7",
            "uniprot_id": "A8E7N7_DANRE",
            "refseq_ac": "NP_001201839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC100535215",
                    "type": "synonym"
                },
                {
                    "name": "pogo transposable element with ZNF domain a",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC100535215",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pogza",
                    "type": "recommended"
                },
                {
                    "name": "im:7136628",
                    "type": "synonym"
                },
                {
                    "name": "pogza",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-200h23.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe24e11",
                    "type": "synonym"
                }
            ],
            "record_id": "A8E7N7-1",
            "evidence": [
                {
                    "id": "0070067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BZH4-1",
            "uniprot_ac": "Q8BZH4",
            "uniprot_id": "POGZ_MOUSE",
            "refseq_ac": "NP_766271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pogo transposable element with ZNF domain",
                    "type": "recommended"
                },
                {
                    "name": "pogo transposable element with ZNF domain isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pogz",
                    "type": "recommended"
                },
                {
                    "name": "9530006B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0461",
                    "type": "synonym"
                },
                {
                    "name": "Pogz",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZH4-1",
            "evidence": [
                {
                    "id": "0070067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z3K3-1",
            "uniprot_ac": "Q7Z3K3",
            "uniprot_id": "POGZ_HUMAN",
            "refseq_ac": "NP_001181866",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pogo transposable element with ZNF domain",
                    "type": "recommended"
                },
                {
                    "name": "Suppressor of hairy wing homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 280E",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 635",
                    "type": "synonym"
                },
                {
                    "name": "pogo transposable element with ZNF domain isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "pogo transposable element with ZNF domain",
                    "type": "synonym"
                },
                {
                    "name": "putative protein product of Nbla00003",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 280E",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 635",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POGZ",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0461",
                    "type": "synonym"
                },
                {
                    "name": "MRD37",
                    "type": "synonym"
                },
                {
                    "name": "Nbla00003",
                    "type": "synonym"
                },
                {
                    "name": "POGZ",
                    "type": "synonym"
                },
                {
                    "name": "SUHW5",
                    "type": "synonym"
                },
                {
                    "name": "WHSUS",
                    "type": "synonym"
                },
                {
                    "name": "ZNF280E",
                    "type": "synonym"
                },
                {
                    "name": "ZNF635m",
                    "type": "synonym"
                },
                {
                    "name": "ZNF635",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z3K3-1",
            "evidence": [
                {
                    "id": "616364",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616364"
                },
                {
                    "id": "0070067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LDR4-1",
            "uniprot_ac": "A0ABK0LDR4",
            "uniprot_id": "A0ABK0LDR4_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": "Pogo transposable element with ZNF domain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Pogz",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LDR4-1",
            "evidence": [
                {
                    "id": "0070067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070067"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KER0-1",
            "uniprot_ac": "A0A0B4KER0",
            "uniprot_id": "A0A0B4KER0_DROME",
            "refseq_ac": "NP_001260992",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8092-PC",
                    "type": "synonym"
                },
                {
                    "name": "Relative of woc, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Relative-of-WOC",
                    "type": "synonym"
                },
                {
                    "name": "relative of woc, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "row-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "row",
                    "type": "recommended"
                },
                {
                    "name": "CG8092",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8092",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8092",
                    "type": "synonym"
                },
                {
                    "name": "ROW",
                    "type": "synonym"
                },
                {
                    "name": "Row",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.194",
                    "type": "synonym"
                },
                {
                    "name": "row",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KER0-1",
            "evidence": [
                {
                    "id": "0070067",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070067"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070067"
}