{
    "disease_id": "DOID:0112120",
    "recommended_name": {
        "id": "DOID:0112120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112120",
        "name": "SHOX-related short stature",
        "description": "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively."
    },
    "synonyms": [
        {
            "id": "DOID:0112120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112120",
            "name": "idiopathic familial short stature",
            "description": ""
        },
        {
            "id": "MONDO:0010367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010367",
            "name": "SHOX-related short stature",
            "description": "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never."
        },
        {
            "id": "MONDO:0010367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010367",
            "name": "short stature, idiopathic familial",
            "description": ""
        },
        {
            "id": "MONDO:0010367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010367",
            "name": "ISS",
            "description": ""
        },
        {
            "id": "MONDO:0010367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010367",
            "name": "short stature, idiopathic, X-linked",
            "description": ""
        },
        {
            "id": "MIM:300582",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300582",
            "name": "Short stature, idiopathic, X-linked",
            "description": "Short stature, idiopathic, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112120"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112120",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112120",
            "categories": []
        },
        {
            "id": "MONDO:0010367",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010367",
            "categories": []
        },
        {
            "id": "MIM:300582",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300582",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BFC1-1",
            "uniprot_ac": "A0A8M2BFC1",
            "uniprot_id": "A0A8M2BFC1_DANRE",
            "refseq_ac": "XP_005167911",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short stature homeobox protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shox",
                    "type": "recommended"
                },
                {
                    "name": "shox",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-134k13.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123182",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BFC1-1",
            "evidence": [
                {
                    "id": "0112120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15266-1",
            "uniprot_ac": "O15266",
            "uniprot_id": "SHOX_HUMAN",
            "refseq_ac": "NP_000442",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short stature homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "Pseudoautosomal homeobox-containing osteogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "Short stature homeobox-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "growth control factor, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "pseudoautosomal homeobox-containing osteogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox protein isoform SHOXa",
                    "type": "synonym"
                },
                {
                    "name": "short stature homeobox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHOX",
                    "type": "recommended"
                },
                {
                    "name": "GCFX",
                    "type": "synonym"
                },
                {
                    "name": "PHOG",
                    "type": "synonym"
                },
                {
                    "name": "SHOX1",
                    "type": "synonym"
                },
                {
                    "name": "SHOXY",
                    "type": "synonym"
                },
                {
                    "name": "SHOX",
                    "type": "synonym"
                },
                {
                    "name": "SS",
                    "type": "synonym"
                }
            ],
            "record_id": "O15266-1",
            "evidence": [
                {
                    "id": "300582",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300582"
                },
                {
                    "id": "0112120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04116-1",
            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
            "refseq_ac": "NP_010739",
            "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": "Homeobox protein YHP1",
                    "type": "recommended"
                },
                {
                    "name": "Yhp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YHP1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.36",
                    "type": "synonym"
                },
                {
                    "name": "YHP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04116-1",
            "evidence": [
                {
                    "id": "0112120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYR8-1",
            "uniprot_ac": "A8DYR8",
            "uniprot_id": "A8DYR8_DROME",
            "refseq_ac": "NP_001097140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein unc-4",
                    "type": "recommended"
                },
                {
                    "name": "CG34367-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13141",
                    "type": "recommended"
                },
                {
                    "name": "CG13141",
                    "type": "synonym"
                },
                {
                    "name": "CG34367",
                    "type": "synonym"
                },
                {
                    "name": "CG5369",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34367",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34367",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYR8-1",
            "evidence": [
                {
                    "id": "0112120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112120"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112120"
}