{ "url": "https://dantelabs.com/hu/genes/pah", "gene": { "slug": "pah", "symbol": "PAH", "name": "phenylalanine hydroxylase", "hgnc": "HGNC:8582", "summary": null, "location": "12q23.2", "locusType": "gene with protein product", "aliases": [ "PH" ], "previousSymbols": [], "ensemblId": "ENSG00000171759", "entrezId": 5053, "omim": [ "612349" ], "uniprot": [ "P00439" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 102836889, "end": 102917244, "strand": "-", "ensemblTranscript": "ENST00000553106.6", "refseqTranscript": "NM_000277.3", "ensemblProtein": "ENSP00000448059.1", "refseqProtein": "NP_000268.1", "exons": [ { "start": 102836889, "end": 102839218 }, { "start": 102840400, "end": 102840515 }, { "start": 102843646, "end": 102843779 }, { "start": 102844336, "end": 102844431 }, { "start": 102846895, "end": 102846951 }, { "start": 102851687, "end": 102851756 }, { "start": 102852815, "end": 102852950 }, { "start": 102855136, "end": 102855332 }, { "start": 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"abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-calcification" }, { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormal-heart-morphology", "name": "Abnormality of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-heart-morphology" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "abnormal-renal-morphology", "name": "Abnormally shaped kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-renal-morphology" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "esophageal-atresia", "name": "Birth defect in which part of esophagus did not develop", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/esophageal-atresia" }, { "slug": "bladder-exstrophy", "name": "Bladder exstrophy", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bladder-exstrophy" }, { "slug": "blue-irides", "name": "Blue eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/blue-irides" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/cataract" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/depression" }, { "slug": "deviated-nasal-septum", "name": "Deviated nasal septum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/deviated-nasal-septum" }, { "slug": "double-outlet-right-ventricle", "name": "Double outlet right ventricle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/double-outlet-right-ventricle" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "elevated-urinary-gamma-glutamylphenylalanine-level", "name": "Elevated urinary gamma-glutamylphenylalanine level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-urinary-gamma-glutamylphenylalanine-level" }, { "slug": "elevated-urinary-phenylpyruvic-acid-level", "name": "Elevated urinary phenylpyruvic acid level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/elevated-urinary-phenylpyruvic-acid-level" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "fair-hair", "name": "Fair hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/fair-hair" }, { "slug": "generalized-hypopigmentation", "name": "Fair skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/generalized-hypopigmentation" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "hyperphenylalaninemia", "name": "Hyperphenylalaninemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperphenylalaninemia" }, { "slug": "hypoplastic-helices", "name": "Hypoplastic helices", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoplastic-helices" }, { "slug": "increased-level-of-hippuric-acid-in-urine", "name": "Increased level of hippuric acid in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-level-of-hippuric-acid-in-urine" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/irritability" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ 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