{
    "disease_id": "DOID:0111687",
    "recommended_name": {
        "id": "DOID:0111687",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111687",
        "name": "Potocki-Shaffer syndrome",
        "description": "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111687",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111687",
            "name": "11p11.2 deletion",
            "description": ""
        },
        {
            "id": "DOID:0111687",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111687",
            "name": "PSS",
            "description": ""
        },
        {
            "id": "DOID:0111687",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111687",
            "name": "proximal 11p deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "Potocki-Shaffer syndrome",
            "description": "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)."
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "11p11.2 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "Potocki-Shaffer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "proximal 11p deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "PSS",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "deletion of chromosome 11p11.2",
            "description": ""
        },
        {
            "id": "MIM:601224",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601224",
            "name": "Potocki-Shaffer syndrome",
            "description": "Potocki-Shaffer syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111687"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111687",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111687",
            "categories": []
        },
        {
            "id": "MONDO:0011022",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "categories": []
        },
        {
            "id": "MIM:601224",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601224",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H161-1",
            "uniprot_ac": "Q9H161",
            "uniprot_id": "ALX4_HUMAN",
            "refseq_ac": "NP_068745",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein aristaless-like 4",
                    "type": "recommended"
                },
                {
                    "name": "aristaless-like homeobox 4",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein aristaless-like 4",
                    "type": "synonym"
                },
                {
                    "name": "homeodomain transcription factor ALX4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALX4",
                    "type": "recommended"
                },
                {
                    "name": "ALX4",
                    "type": "synonym"
                },
                {
                    "name": "CRS5",
                    "type": "synonym"
                },
                {
                    "name": "FND2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1788",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H161-1",
            "evidence": [
                {
                    "id": "601224",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q93063-1",
            "uniprot_ac": "Q93063",
            "uniprot_id": "EXT2_HUMAN",
            "refseq_ac": "NP_000392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exostosin-2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.224",
                    "type": "synonym"
                },
                {
                    "name": "Exostosin glycosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Heparan sulfate co-polymerase subunit EXT1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple exostoses protein 2",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "exostosin-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "exostosin-2",
                    "type": "synonym"
                },
                {
                    "name": "glucuronosyl-N-acetylglucosaminyl-proteoglycan/N- acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate co-polymerase subunit EXT1",
                    "type": "synonym"
                },
                {
                    "name": "multiple exostoses protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multiple exostosis 2",
                    "type": "synonym"
                },
                {
                    "name": "putative tumor suppressor protein EXT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EXT2",
                    "type": "recommended"
                },
                {
                    "name": "EXT2",
                    "type": "synonym"
                },
                {
                    "name": "SOTV",
                    "type": "synonym"
                },
                {
                    "name": "SSMS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q93063-1",
            "evidence": [
                {
                    "id": "601224",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601224"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111687"
}