{
    "disease_id": "DOID:0111454",
    "recommended_name": {
        "id": "DOID:0111454",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111454",
        "name": "SHORT syndrome",
        "description": "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay",
            "description": ""
        },
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "Aarskog-Ose-Pande syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "Lipodystrophy-Rieger anomaly-diabetes syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "name": "Rieger anomaly-partial lipodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "SHORT syndrome",
            "description": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt."
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "Aarskog-Ose-Pande syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "Rieger anomaly-partial lipodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "SHORT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "lipodystrophy-Rieger anomaly-diabetes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "short syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "partial lipodystrophy with Rieger anomaly and short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "name": "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay",
            "description": ""
        },
        {
            "id": "MIM:269880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269880",
            "name": "SHORT syndrome",
            "description": "SHORT syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111454"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111454",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111454",
            "categories": []
        },
        {
            "id": "MONDO:0010026",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010026",
            "categories": []
        },
        {
            "id": "MIM:269880",
            "database": "MIM",
            "url": "https://www.omim.org/entry/269880",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S6V7-1",
            "uniprot_ac": "B0S6V7",
            "uniprot_id": "B0S6V7_DANRE",
            "refseq_ac": "NP_001268773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pik3r1",
                    "type": "recommended"
                },
                {
                    "name": "pik3r1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb65b05",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S6V7-1",
            "evidence": [
                {
                    "id": "0111454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26450-1",
            "uniprot_ac": "P26450",
            "uniprot_id": "P85A_MOUSE",
            "refseq_ac": "NP_001070963",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PI3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3r1",
                    "type": "recommended"
                },
                {
                    "name": "PI3K",
                    "type": "synonym"
                },
                {
                    "name": "Pik3r1",
                    "type": "synonym"
                },
                {
                    "name": "p50alpha",
                    "type": "synonym"
                },
                {
                    "name": "p55alpha",
                    "type": "synonym"
                },
                {
                    "name": "p85alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P26450-1",
            "evidence": [
                {
                    "id": "0111454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27986-1",
            "uniprot_ac": "P27986",
            "uniprot_id": "P85A_HUMAN",
            "refseq_ac": "NP_001229395",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PI3 kinase-associated p85",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor bound 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase-associated p-85 alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIK3R1",
                    "type": "recommended"
                },
                {
                    "name": "AGM7",
                    "type": "synonym"
                },
                {
                    "name": "GRB1",
                    "type": "synonym"
                },
                {
                    "name": "IMD36",
                    "type": "synonym"
                },
                {
                    "name": "PIK3R1",
                    "type": "synonym"
                },
                {
                    "name": "p85-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "p85alpha",
                    "type": "synonym"
                },
                {
                    "name": "p85",
                    "type": "synonym"
                }
            ],
            "record_id": "P27986-1",
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                {
                    "id": "269880",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/269880"
                },
                {
                    "id": "0111454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63787-1",
            "uniprot_ac": "Q63787",
            "uniprot_id": "P85A_RAT",
            "refseq_ac": "NP_037137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PI3-kinase p85 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PI3K regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide 3-kinase p85 (other splicing variants: p55 and p50)",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase p85 alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-3-kinase, regulatory subunit 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase p85-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase regulatory subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns-3-kinase regulatory subunit p85-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pik3r1",
                    "type": "recommended"
                },
                {
                    "name": "PI3KA",
                    "type": "synonym"
                },
                {
                    "name": "Pik3r1",
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                }
            ],
            "record_id": "Q63787-1",
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                {
                    "id": "0111454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KTZ2-1",
            "uniprot_ac": "Q7KTZ2",
            "uniprot_id": "Q7KTZ2_DROME",
            "refseq_ac": "NP_001259817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2699-PE",
                    "type": "synonym"
                },
                {
                    "name": "PI 3-kinase",
                    "type": "synonym"
                },
                {
                    "name": "PI3 kinase",
                    "type": "synonym"
                },
                {
                    "name": "PI3-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B-PE",
                    "type": "synonym"
                },
                {
                    "name": "dPI 3-kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pi3K21B",
                    "type": "recommended"
                },
                {
                    "name": "CG2699",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2699",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2699",
                    "type": "synonym"
                },
                {
                    "name": "Dp60",
                    "type": "synonym"
                },
                {
                    "name": "P60",
                    "type": "synonym"
                },
                {
                    "name": "PI(3)K",
                    "type": "synonym"
                },
                {
                    "name": "PI3 kinase",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-p60",
                    "type": "synonym"
                },
                {
                    "name": "PI3K-reg",
                    "type": "synonym"
                },
                {
                    "name": "PI3K21B",
                    "type": "synonym"
                },
                {
                    "name": "PI3K",
                    "type": "synonym"
                },
                {
                    "name": "PI[[3]]K",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K21B",
                    "type": "synonym"
                },
                {
                    "name": "Pi3Kp60",
                    "type": "synonym"
                },
                {
                    "name": "Pi3K",
                    "type": "synonym"
                },
                {
                    "name": "Pi3k21B",
                    "type": "synonym"
                },
                {
                    "name": "Pi3ks",
                    "type": "synonym"
                },
                {
                    "name": "dP60",
                    "type": "synonym"
                },
                {
                    "name": "dPI3K",
                    "type": "synonym"
                },
                {
                    "name": "deltap60",
                    "type": "synonym"
                },
                {
                    "name": "dp60",
                    "type": "synonym"
                },
                {
                    "name": "droPIK57",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                },
                {
                    "name": "p85",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KTZ2-1",
            "evidence": [
                {
                    "id": "0111454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111454"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111454"
}