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"end": 46364460, "strand": "-", "slug": "slc35h1" }, { "symbol": "ELMO2", "ensemblId": "ENSG00000062598", "biotype": "protein_coding", "start": 46366045, "end": 46432985, "strand": "-", "slug": "elmo2" }, { "symbol": "ZNF840P", "ensemblId": "ENSG00000184617", "biotype": "protein_coding", "start": 46459441, "end": 46495558, "strand": "+", "slug": "znf840p" }, { "symbol": "ZNF334", "ensemblId": "ENSG00000198185", "biotype": "protein_coding", "start": 46499630, "end": 46513596, "strand": "-", "slug": "znf334" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-morphology-of-ulna", "name": "Abnormal morphology of ulna", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna" }, { "slug": "abnormal-epiphysis-morphology", "name": "Abnormal shape of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology" }, { "slug": "abnormal-ulnar-metaphysis-morphology", "name": "Abnormal ulnar metaphysis morphology", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-ulnar-metaphysis-morphology" }, { "slug": "abnormality-of-the-lower-limb", "name": "Abnormality of the lower limb", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-lower-limb" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "aplasia-hypoplasia-of-the-radius", "name": "Aplasia/Hypoplasia of the radius", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-radius" }, { "slug": "bowing-of-the-legs", "name": "Bowed legs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-legs" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "metaphyseal-widening", "name": "Broad wide portion of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/metaphyseal-widening" }, { "slug": "metaphyseal-irregularity", "name": "Irregular wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/metaphyseal-irregularity" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "genu-varum", "name": "Outward bow-leggedness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/genu-varum" }, { "slug": "short-femoral-neck", "name": "Short neck of thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-femoral-neck" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }