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"acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/it/conditions/familial-intrahepatic-cholestasis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "fibro-obliterative-bile-duct-lesion", "name": "Fibro-obliterative bile-duct lesion", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": 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"name": "Malformation of the hepatic ductal plate", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malformation-of-the-hepatic-ductal-plate" }, { "slug": "micronodular-cirrhosis", "name": "Micronodular cirrhosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micronodular-cirrhosis" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/portal-hypertension" } ], "related": [ { "slug": "abcb11", "symbol": "ABCB11", "name": "ATP binding cassette subfamily B member 11", "shared": 1, "url": "https://dantelabs.com/it/genes/abcb11" }, { "slug": "abcb4", "symbol": "ABCB4", "name": "ATP binding cassette subfamily B member 4", "shared": 1, "url": "https://dantelabs.com/it/genes/abcb4" }, { "slug": "atp8b1", "symbol": "ATP8B1", "name": "ATPase phospholipid transporting 8B1", "shared": 1, "url": "https://dantelabs.com/it/genes/atp8b1" }, { "slug": "kif12", "symbol": "KIF12", "name": "kinesin family member 12", "shared": 1, "url": "https://dantelabs.com/it/genes/kif12" }, { "slug": "myo5b", "symbol": "MYO5B", "name": "myosin VB", "shared": 1, "url": "https://dantelabs.com/it/genes/myo5b" }, { "slug": "nr1h4", "symbol": "NR1H4", "name": "nuclear receptor subfamily 1 group H member 4", "shared": 1, "url": "https://dantelabs.com/it/genes/nr1h4" }, { "slug": "pskh1", "symbol": "PSKH1", "name": "protein serine kinase H1", "shared": 1, "url": "https://dantelabs.com/it/genes/pskh1" }, { "slug": "tjp2", "symbol": "TJP2", "name": "tight junction protein 2", "shared": 1, "url": "https://dantelabs.com/it/genes/tjp2" }, { "slug": "usp53", "symbol": "USP53", "name": "ubiquitin specific peptidase 53", "shared": 1, "url": "https://dantelabs.com/it/genes/usp53" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }