{
    "disease_id": "DOID:0112196",
    "recommended_name": {
        "id": "DOID:0112196",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112196",
        "name": "spondylometaepiphyseal dysplasia, short limb-hand type",
        "description": "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "SMED short limb-abnormal calcification type",
            "description": ""
        },
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "SMED short limb-hand type",
            "description": ""
        },
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "SMED type 2",
            "description": ""
        },
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "SMED, type II",
            "description": ""
        },
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "SMED-SL",
            "description": ""
        },
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "SMED-SL/AC",
            "description": ""
        },
        {
            "id": "DOID:0112196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "name": "spondylometaepiphyseal dysplasia short limb-hand type",
            "description": ""
        },
        {
            "id": "MONDO:0010077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "name": "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome",
            "description": "A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal."
        },
        {
            "id": "MONDO:0010077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "name": "SMED short limb-hand type",
            "description": ""
        },
        {
            "id": "MONDO:0010077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "name": "SMED type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "name": "Smed short limb-abnormal calcification type",
            "description": ""
        },
        {
            "id": "MONDO:0010077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "name": "spondyloepimetaphyseal dysplasia - short limb - abnormal calcification",
            "description": ""
        },
        {
            "id": "MONDO:0010077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "name": "spondylometaepiphyseal dysplasia short limb-abnormal calcification type",
            "description": ""
        },
        {
            "id": "MONDO:0010077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "name": "spondylometaepiphyseal dysplasia short limb-hand type",
            "description": ""
        },
        {
            "id": "MIM:271665",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271665",
            "name": "Spondyloepimetaphyseal dysplasia, short limb-hand type",
            "description": "Spondyloepimetaphyseal dysplasia, short limb-hand type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112196"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112196",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112196",
            "categories": []
        },
        {
            "id": "MONDO:0010077",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010077",
            "categories": []
        },
        {
            "id": "MIM:271665",
            "database": "MIM",
            "url": "https://www.omim.org/entry/271665",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FFT8-1",
            "uniprot_ac": "E7FFT8",
            "uniprot_id": "E7FFT8_DANRE",
            "refseq_ac": "XP_073761977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Discoidin domain-containing receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CD167 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 3",
                    "type": "synonym"
                },
                {
                    "name": "Receptor protein-tyrosine kinase TKT",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase TYRO10",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain-containing receptor 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ddr2a",
                    "type": "recommended"
                },
                {
                    "name": "ddr2a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FFT8-1",
            "evidence": [
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6Z131-1",
            "uniprot_ac": "A0A8M6Z131",
            "uniprot_id": "A0A8M6Z131_DANRE",
            "refseq_ac": "XP_017206819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Discoidin domain-containing receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CD167 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 3",
                    "type": "synonym"
                },
                {
                    "name": "Receptor protein-tyrosine kinase TKT",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase TYRO10",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain-containing receptor 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ddr2b",
                    "type": "recommended"
                },
                {
                    "name": "ddr2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z131-1",
            "evidence": [
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62371-1",
            "uniprot_ac": "Q62371",
            "uniprot_id": "DDR2_MOUSE",
            "refseq_ac": "NP_072075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Discoidin domain-containing receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CD167 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Discoidin domain receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 3",
                    "type": "synonym"
                },
                {
                    "name": "Receptor protein-tyrosine kinase TKT",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase TYRO10",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain-containing receptor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain-containing receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase, receptor-related 3",
                    "type": "synonym"
                },
                {
                    "name": "receptor protein-tyrosine kinase TKT",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase TYRO10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddr2",
                    "type": "recommended"
                },
                {
                    "name": "Ddr2",
                    "type": "synonym"
                },
                {
                    "name": "Ntrkr3",
                    "type": "synonym"
                },
                {
                    "name": "Tkt",
                    "type": "synonym"
                },
                {
                    "name": "Tyro10",
                    "type": "synonym"
                },
                {
                    "name": "tyro10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62371-1",
            "evidence": [
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16832-1",
            "uniprot_ac": "Q16832",
            "uniprot_id": "DDR2_HUMAN",
            "refseq_ac": "NP_001014796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Discoidin domain-containing receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CD167 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Discoidin domain receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Discoidin domain-containing receptor tyrosine kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 3",
                    "type": "synonym"
                },
                {
                    "name": "Receptor protein-tyrosine kinase TKT",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase TYRO10",
                    "type": "synonym"
                },
                {
                    "name": "cell migration-inducing protein 20",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain receptor family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain-containing receptor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain-containing receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain-containing receptor tyrosine kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyaryl-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "migration-inducing gene 16 protein",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase receptor related 3",
                    "type": "synonym"
                },
                {
                    "name": "receptor protein-tyrosine kinase TKT",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase TYRO10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDR2",
                    "type": "recommended"
                },
                {
                    "name": "DDR2-N",
                    "type": "synonym"
                },
                {
                    "name": "DDR2",
                    "type": "synonym"
                },
                {
                    "name": "MIG20a",
                    "type": "synonym"
                },
                {
                    "name": "NTRKR3",
                    "type": "synonym"
                },
                {
                    "name": "TKT",
                    "type": "synonym"
                },
                {
                    "name": "TYRO10",
                    "type": "synonym"
                },
                {
                    "name": "WRCN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16832-1",
            "evidence": [
                {
                    "id": "271665",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/271665"
                },
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WC09-1",
            "uniprot_ac": "B1WC09",
            "uniprot_id": "B1WC09_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": "Discoidin domain-containing receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CD167 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 3",
                    "type": "synonym"
                },
                {
                    "name": "Receptor protein-tyrosine kinase TKT",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase TYRO10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddr2",
                    "type": "recommended"
                }
            ],
            "record_id": "B1WC09-1",
            "evidence": [
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63003-1",
            "uniprot_ac": "P63003",
            "uniprot_id": "TLE5_RAT",
            "refseq_ac": "NP_062093",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TLE family member 5",
                    "type": "recommended"
                },
                {
                    "name": "Amino enhancer of split",
                    "type": "synonym"
                },
                {
                    "name": "Amino-terminal enhancer of split",
                    "type": "synonym"
                },
                {
                    "name": "Grg-5",
                    "type": "synonym"
                },
                {
                    "name": "Groucho-related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein ESP1",
                    "type": "synonym"
                },
                {
                    "name": "Protein GRG",
                    "type": "synonym"
                },
                {
                    "name": "R-esp1",
                    "type": "synonym"
                },
                {
                    "name": "TLE family member 5",
                    "type": "synonym"
                },
                {
                    "name": "amino enhancer of split",
                    "type": "synonym"
                },
                {
                    "name": "amino-terminal enhancer of split",
                    "type": "synonym"
                },
                {
                    "name": "groucho-related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "related to Drosophila groucho",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tle5",
                    "type": "recommended"
                },
                {
                    "name": "Aes",
                    "type": "synonym"
                },
                {
                    "name": "Esp1",
                    "type": "synonym"
                },
                {
                    "name": "Grg-5",
                    "type": "synonym"
                },
                {
                    "name": "Grg5",
                    "type": "synonym"
                },
                {
                    "name": "Grg",
                    "type": "synonym"
                },
                {
                    "name": "Tle5",
                    "type": "synonym"
                }
            ],
            "record_id": "P63003-1",
            "evidence": [
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "R9PY37-1",
            "uniprot_ac": "R9PY37",
            "uniprot_id": "R9PY37_DROME",
            "refseq_ac": "NP_723165",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34380-PD",
                    "type": "synonym"
                },
                {
                    "name": "Smoke alarm, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "smal-PD",
                    "type": "synonym"
                },
                {
                    "name": "smoke alarm, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smal",
                    "type": "recommended"
                },
                {
                    "name": "CG13986",
                    "type": "synonym"
                },
                {
                    "name": "CG13987",
                    "type": "synonym"
                },
                {
                    "name": "CG13988",
                    "type": "synonym"
                },
                {
                    "name": "CG15813",
                    "type": "synonym"
                },
                {
                    "name": "CG31640",
                    "type": "synonym"
                },
                {
                    "name": "CG34380",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34380",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34380",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0073329.6",
                    "type": "synonym"
                },
                {
                    "name": "smal",
                    "type": "synonym"
                }
            ],
            "record_id": "R9PY37-1",
            "evidence": [
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q59DZ7-1",
            "uniprot_ac": "Q59DZ7",
            "uniprot_id": "Q59DZ7_DROME",
            "refseq_ac": "NP_001014474",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33531-PG",
                    "type": "synonym"
                },
                {
                    "name": "Ddr-PG",
                    "type": "synonym"
                },
                {
                    "name": "Discoidin domain receptor, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Discoidin domain receptor, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "discoidin domain receptor, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddr",
                    "type": "recommended"
                },
                {
                    "name": "CG11573",
                    "type": "synonym"
                },
                {
                    "name": "CG13985",
                    "type": "synonym"
                },
                {
                    "name": "CG33531",
                    "type": "synonym"
                },
                {
                    "name": "CG9488",
                    "type": "synonym"
                },
                {
                    "name": "CG9490",
                    "type": "synonym"
                },
                {
                    "name": "CT33540",
                    "type": "synonym"
                },
                {
                    "name": "DDR",
                    "type": "synonym"
                },
                {
                    "name": "Ddr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33531",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33531",
                    "type": "synonym"
                },
                {
                    "name": "ddr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q59DZ7-1",
            "evidence": [
                {
                    "id": "0112196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112196"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112196"
}