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caracterizadas por um aumento da densidade óssea nas radiografias.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/osteopetrosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "dense-metaphyseal-bands", "name": "Dense metaphyseal bands", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dense-metaphyseal-bands" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": 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"frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "metaphyseal-dysplasia", "name": "Metaphyseal dysplasia", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metaphyseal-dysplasia" }, { "slug": "sclerotic-vertebral-endplates", "name": "Sclerotic vertebral endplates", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sclerotic-vertebral-endplates" } ], "related": [ { "slug": "amer1", "symbol": "AMER1", "name": "APC membrane recruitment protein 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/amer1" }, { "slug": "ca2", "symbol": "CA2", "name": "carbonic anhydrase 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/ca2" }, { "slug": "clcn7", "symbol": "CLCN7", "name": "Cl-/H+ antiporter 7", "shared": 1, "url": "https://dantelabs.com/pt/genes/clcn7" }, { "slug": "ctsk", "symbol": "CTSK", "name": "cathepsin K", "shared": 1, "url": "https://dantelabs.com/pt/genes/ctsk" }, { "slug": "fermt3", "symbol": "FERMT3", "name": "FERM domain containing kindlin 3", "shared": 1, "url": "https://dantelabs.com/pt/genes/fermt3" }, { "slug": "lrp5", "symbol": "LRP5", "name": "LDL receptor related protein 5", "shared": 1, "url": "https://dantelabs.com/pt/genes/lrp5" }, { "slug": "ostm1", "symbol": "OSTM1", "name": "osteoclastogenesis associated transmembrane protein 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/ostm1" }, { "slug": "plekhm1", "symbol": "PLEKHM1", "name": "pleckstrin homology and RUN domain containing M1", "shared": 1, "url": "https://dantelabs.com/pt/genes/plekhm1" }, { "slug": "rasgrp2", "symbol": "RASGRP2", "name": "RAS guanyl releasing protein 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/rasgrp2" }, { "slug": "snx10", "symbol": "SNX10", "name": "sorting nexin 10", "shared": 1, "url": "https://dantelabs.com/pt/genes/snx10" }, { "slug": "tcirg1", "symbol": "TCIRG1", "name": "T cell immune regulator 1, ATPase H+ transporting V0 subunit a3", "shared": 1, "url": "https://dantelabs.com/pt/genes/tcirg1" }, { "slug": "tnfrsf11a", "symbol": "TNFRSF11A", "name": "TNF receptor superfamily member 11a", "shared": 1, "url": "https://dantelabs.com/pt/genes/tnfrsf11a" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }