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"start": 137550424, "end": 137552555, "strand": "+", "slug": "mrpl41" }, { "symbol": "DPH7", "ensemblId": "ENSG00000148399", "biotype": "protein_coding", "start": 137554436, "end": 137578936, "strand": "-", "slug": "dph7" }, { "symbol": "ZMYND19", "ensemblId": "ENSG00000165724", "biotype": "protein_coding", "start": 137582066, "end": 137590520, "strand": "-", "slug": "zmynd19" }, { "symbol": "ARRDC1", "ensemblId": "ENSG00000197070", "biotype": "protein_coding", "start": 137605619, "end": 137617859, "strand": "+", "slug": "arrdc1" }, { "symbol": "EHMT1", "ensemblId": "ENSG00000181090", "biotype": "protein_coding", "start": 137618901, "end": 137870016, "strand": "+", "slug": "ehmt1" } ], "truncated": false }, "reports": [ { "slug": "hereditary-rickets", "name": "Ärftlig rakit (hypofosfatemisk och D-vitaminberoende)", "diseases": [ { "mondoId": "MONDO:0000044", "name": "Ärftlig hypofosfatemisk rakit (inklusive X-kopplad hypofosfatemi)", "genes": 5, "inheritance": null, "description": "Ärftliga störningar i hanteringen av fosfat, oftast orsakade av varianter i PHEX (X-kopplad hypofosfatemi) och mer sällan av FGF23, DMP1, ENPP1 eller SLC34A3, som leder till lågt fosfat i blodet och rakit.", "management": "Behandling med fosfat och aktivt D-vitamin via munnen, eller med antikroppen mot FGF23 burosumab, kan förbättra benhälsan och tillväxten.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/hereditary-rickets" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "renal-tubular-dysfunction", "name": "Abnormal function of filtrating structures in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-tubular-dysfunction" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "bone-pain", "name": "Bone pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bone-pain" }, { "slug": "fibular-bowing", "name": "Bowed calf bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/fibular-bowing" }, { "slug": "bowing-of-the-legs", "name": "Bowed legs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowing-of-the-legs" }, { "slug": "tibial-bowing", "name": "Bowed shankbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/tibial-bowing" }, { "slug": "femoral-bowing", "name": "Bowed thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/femoral-bowing" }, { "slug": "bulging-epiphyses", "name": "Bulging end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/bulging-epiphyses" }, { "slug": "bulging-of-the-costochondral-junction", "name": "Bulging of the costochondral junction", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/bulging-of-the-costochondral-junction" }, { "slug": "calcium-nephrolithiasis", "name": "Calcium kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/calcium-nephrolithiasis" }, { "slug": "decreased-circulating-parathyroid-hormone-level", "name": "Decreased circulating parathyroid hormone level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-circulating-parathyroid-hormone-level" }, { "slug": "deformed-rib-cage", "name": "Deformed rib cage", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/deformed-rib-cage" }, { "slug": "delayed-epiphyseal-ossification", "name": "Delayed maturation of end part of long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification" }, { "slug": "difficulty-standing", "name": "Difficulty in standing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/difficulty-standing" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "elevated-alkaline-phosphatase-of-bone-origin", "name": "Elevated alkaline phosphatase of bone origin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-alkaline-phosphatase-of-bone-origin" }, { "slug": "elevated-circulating-beta-ctx-concentration", "name": "Elevated circulating beta-CTX concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-beta-ctx-concentration" }, { "slug": "elevated-circulating-calcitriol-concentration", "name": "Elevated circulating calcitriol concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-calcitriol-concentration" }, { "slug": "hypercalciuria", "name": "Elevated urine calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypercalciuria" }, { "slug": "enlargement-of-the-ankles", "name": "Enlargement of the ankles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/enlargement-of-the-ankles" }, { "slug": "enlargement-of-the-costochondral-junction", "name": "Enlargement of the costochondral junction", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/enlargement-of-the-costochondral-junction" }, { "slug": "enlargement-of-the-wrists", "name": "Enlargement of the wrists", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/enlargement-of-the-wrists" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "flat-occiput", "name": "Flat back of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flat-occiput" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hyperphosphaturia", "name": "High urine phosphate levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperphosphaturia" }, { "slug": "hypophosphatemic-rickets", "name": "Hypophosphatemic rickets", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypophosphatemic-rickets" }, { "slug": "increased-circulating-osteocalcin-level", "name": "Increased circulating osteocalcin level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-osteocalcin-level" }, { "slug": "metaphyseal-irregularity", "name": "Irregular wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metaphyseal-irregularity" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "hypophosphatemia", "name": "Low blood phosphate level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypophosphatemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "medullary-nephrocalcinosis", "name": "Medullary nephrocalcinosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/medullary-nephrocalcinosis" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "rachitic-rosary", "name": "Rachitic rosary", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rachitic-rosary" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "renal-phosphate-wasting", "name": "Renal phosphate wasting", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-phosphate-wasting" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "osteomalacia", "name": "Softening of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteomalacia" }, { "slug": "sparse-bone-trabeculae", "name": "Sparse bone trabeculae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/sparse-bone-trabeculae" }, { "slug": "pathologic-fracture", "name": "Spontaneous fracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pathologic-fracture" }, { "slug": "thin-bony-cortex", "name": "Thin bony cortex", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/thin-bony-cortex" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "rickets", "name": "Weak and soft bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rickets" }, { "slug": "widely-patent-fontanelles-and-sutures", "name": "Widely patent fontanelles and sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/widely-patent-fontanelles-and-sutures" } ], "related": [ { "slug": "dmp1", "symbol": "DMP1", "name": "dentin matrix acidic phosphoprotein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/dmp1" }, { "slug": "enpp1", "symbol": "ENPP1", "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/enpp1" }, { "slug": "fgf23", "symbol": "FGF23", "name": "fibroblast growth factor 23", "shared": 1, "url": "https://dantelabs.com/sv/genes/fgf23" }, { "slug": "phex", "symbol": "PHEX", "name": "phosphate regulating endopeptidase X-linked", "shared": 1, "url": "https://dantelabs.com/sv/genes/phex" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }