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  "url": "https://dantelabs.com/fr/genes/lama3",
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        "slug": "epidermolysis-bullosa",
        "name": "Épidermolyse bulleuse",
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            "name": "Épidermolyse bulleuse jonctionnelle 2a, intermédiaire",
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          {
            "mondoId": "MONDO:0030747",
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            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
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              "acmgSf": false,
              "inheritance": [
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            "sameAsReport": false,
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          {
            "mondoId": "MONDO:0019276",
            "name": "Épidermolyse bulleuse héréditaire",
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            "inheritance": null,
            "description": "Toutes les formes héréditaires de fragilité cutanée avec formation de cloques, notamment l'épidermolyse bulleuse simple, jonctionnelle et dystrophique, ainsi que le syndrome de Kindler.",
            "management": "Les formes dystrophiques récessives nécessitent une surveillance régulière pour le cancer de la peau, et une thérapie cicatrisante basée sur les gènes est désormais disponible pour l'épidermolyse bulleuse dystrophique.",
            "evidence": {
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              "inheritance": [
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            "sameAsReport": false,
            "broad": false
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        ],
        "url": "https://dantelabs.com/fr/conditions/epidermolysis-bullosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-cornea-morphology",
        "name": "Abnormal cornea morphology",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cornea-morphology"
      },
      {
        "slug": "abnormal-periungual-morphology",
        "name": "Abnormal periungual morphology",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-periungual-morphology"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "abnormal-oral-mucosa-morphology",
        "name": "Abnormality of lining of mouth",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-oral-mucosa-morphology"
      },
      {
        "slug": "abnormality-of-the-bladder",
        "name": "Abnormality of the bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-bladder"
      },
      {
        "slug": "abnormal-fingertip-morphology",
        "name": "Abnormality of the fingertips",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-fingertip-morphology"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "abnormality-of-the-upper-respiratory-tract",
        "name": "Abnormality of the upper respiratory tract",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-respiratory-tract"
      },
      {
        "slug": "abnormal-vocal-cord-morphology",
        "name": "Abnormality of the vocal cords",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vocal-cord-morphology"
      },
      {
        "slug": "aplasia-cutis-congenita",
        "name": "Absence of part of skin at birth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita"
      },
      {
        "slug": "anonychia",
        "name": "Absent nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anonychia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-bladder",
        "name": "Absent/small bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-bladder"
      },
      {
        "slug": "amelogenesis-imperfecta",
        "name": "Amelogenesis imperfecta",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/amelogenesis-imperfecta"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "congenital-localized-absence-of-skin",
        "name": "Congenital localized absence of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/congenital-localized-absence-of-skin"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "duplicated-collecting-system",
        "name": "Duplicated collecting system",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/duplicated-collecting-system"
      },
      {
        "slug": "abnormal-circulating-electrolyte-concentration",
        "name": "Electrolyte disorders",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-electrolyte-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "erosion-of-oral-mucosa",
        "name": "Erosion of oral mucosa",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erosion-of-oral-mucosa"
      },
      {
        "slug": "exuberant-granulation-tissue",
        "name": "Exuberant granulation tissue",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exuberant-granulation-tissue"
      },
      {
        "slug": "symblepharon",
        "name": "Eyelid stuck to eyeball",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/symblepharon"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "fragile-skin",
        "name": "Fragile skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fragile-skin"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "gastrointestinal-inflammation",
        "name": "Gastrointestinal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-inflammation"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "hoarse-cry",
        "name": "Hoarse cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hoarse-cry"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hypochromic-microcytic-anemia",
        "name": "Hypochromic microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia"
      },
      {
        "slug": "hypoplastic-dermoepidermal-hemidesmosomes",
        "name": "Hypoplastic dermoepidermal hemidesmosomes",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplastic-dermoepidermal-hemidesmosomes"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "inspiratory-stridor",
        "name": "Inspiratory stridor",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inspiratory-stridor"
      },
      {
        "slug": "lamina-lucida-cleavage",
        "name": "Lamina lucida cleavage",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lamina-lucida-cleavage"
      },
      {
        "slug": "laryngeal-stenosis",
        "name": "Laryngeal stenosis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/laryngeal-stenosis"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "malnutrition",
        "name": "Malnutrition",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malnutrition"
      },
      {
        "slug": "milia",
        "name": "Milk spot",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/milia"
      },
      {
        "slug": "mitten-deformity",
        "name": "Mitten deformity",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitten-deformity"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "esophageal-stricture",
        "name": "Narrowing of esophagus due to inflammation and scar tissue",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-stricture"
      },
      {
        "slug": "stridor",
        "name": "Noisy breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stridor"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "oral-mucosal-blisters",
        "name": "Oral mucosal blisters",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oral-mucosal-blisters"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "paronychia",
        "name": "Paronychia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paronychia"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "pyoderma",
        "name": "Pus-filled lesion",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pyoderma"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "recurrent-loss-of-toenails-and-fingernails",
        "name": "Recurrent loss of toenails and fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/recurrent-loss-of-toenails-and-fingernails"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "renal-tubular-epithelial-necrosis",
        "name": "Renal tubular epithelial necrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-tubular-epithelial-necrosis"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "skin-erosion",
        "name": "Skin erosion",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-erosion"
      },
      {
        "slug": "skin-plaque",
        "name": "Skin plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-plaque"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "squamous-cell-carcinoma",
        "name": "Squamous cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/squamous-cell-carcinoma"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "subepidermal-blistering",
        "name": "Subepidermal blistering",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subepidermal-blistering"
      },
      {
        "slug": "subglottic-stenosis",
        "name": "Subglottic stenosis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subglottic-stenosis"
      },
      {
        "slug": "atrophic-scars",
        "name": "Sunken or indented skin due to damage",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atrophic-scars"
      },
      {
        "slug": "corneal-pterygium",
        "name": "Surfer's eye",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-pterygium"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "unexplained-fevers",
        "name": "Unexplained fevers",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unexplained-fevers"
      },
      {
        "slug": "ureteral-obstruction",
        "name": "Ureteral obstruction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureteral-obstruction"
      },
      {
        "slug": "ureterocele",
        "name": "Ureterocele",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureterocele"
      },
      {
        "slug": "urethral-stricture",
        "name": "Urethral stricture",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urethral-stricture"
      },
      {
        "slug": "urinary-retention",
        "name": "Urinary retention",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-retention"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/weak-cry"
      }
    ],
    "related": [
      {
        "slug": "cd151",
        "symbol": "CD151",
        "name": "CD151 molecule (Raph blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cd151"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/col17a1"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "name": "collagen type VII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/col7a1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dsp"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dst"
      },
      {
        "slug": "exph5",
        "symbol": "EXPH5",
        "name": "exophilin 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/exph5"
      },
      {
        "slug": "fermt1",
        "symbol": "FERMT1",
        "name": "FERM domain containing kindlin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fermt1"
      },
      {
        "slug": "itga3",
        "symbol": "ITGA3",
        "name": "integrin subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/itga3"
      },
      {
        "slug": "itga6",
        "symbol": "ITGA6",
        "name": "integrin subunit alpha 6",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/itga6"
      },
      {
        "slug": "itgb4",
        "symbol": "ITGB4",
        "name": "integrin subunit beta 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/itgb4"
      },
      {
        "slug": "jup",
        "symbol": "JUP",
        "name": "junction plakoglobin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/jup"
      },
      {
        "slug": "klhl24",
        "symbol": "KLHL24",
        "name": "kelch like family member 24",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/klhl24"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}