{
  "url": "https://dantelabs.com/el/genes/trip11",
  "gene": {
    "slug": "trip11",
    "symbol": "TRIP11",
    "name": "thyroid hormone receptor interactor 11",
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    "uniprot": [
      "Q15643"
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    },
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    },
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        {
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          "ensemblId": "ENSG00000100796",
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        {
          "symbol": "CATSPERB",
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          "biotype": "protein_coding",
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          "end": 91780707,
          "strand": "-",
          "slug": "catsperb"
        },
        {
          "symbol": "TC2N",
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        {
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        {
          "symbol": "ATXN3",
          "ensemblId": "ENSG00000066427",
          "biotype": "protein_coding",
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        {
          "symbol": "NDUFB1",
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        {
          "symbol": "CPSF2",
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          "biotype": "protein_coding",
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        {
          "symbol": "SLC24A4",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "slc24a4"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "achondrogenesis-panel",
        "name": "Πάνελ Αχονδρογένεσης",
        "diseases": [
          {
            "mondoId": "MONDO:0019648",
            "name": "Αχονδρογένεση",
            "genes": 4,
            "inheritance": null,
            "description": "Η αχονδρογένεση περιγράφει μια σπάνια ομάδα θανατηφόρων σκελετικών δυσπλασιών, που χαρακτηρίζονται από έλλειψη ενδοχονδρικής οστεοποίησης η οποία οδηγεί σε νανισμό με ακραία μικρομελία, μικρό θώρακα, εξέχουσα κοιλιά, ανασάρκα και πολυϋδράμνιο. Υπάρχουν τρεις τύποι αχονδρογένεσης, οι οποίοι διαφέρουν κλινικά, ακτινολογικά, ιστολογικά και γενετικά: αχονδρογένεση τύπου 1α, τύπου 1β και τύπου 2.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/achondrogenesis-panel"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-enchondral-ossification",
        "name": "Abnormal enchondral ossification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-enchondral-ossification"
      },
      {
        "slug": "abnormal-foot-bone-ossification",
        "name": "Abnormal foot bone ossification",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-foot-bone-ossification"
      },
      {
        "slug": "abnormal-ischium-ossification",
        "name": "Abnormal ischium ossification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-ischium-ossification"
      },
      {
        "slug": "abnormal-hand-bone-ossification",
        "name": "Abnormal maturation of the hand bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-hand-bone-ossification"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "abnormal-femoral-metaphysis-morphology",
        "name": "Abnormality of the wide portion of the femoral bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-femoral-metaphysis-morphology"
      },
      {
        "slug": "absence-of-stomach-bubble-on-fetal-sonography",
        "name": "Absence of stomach bubble on fetal sonography",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absence-of-stomach-bubble-on-fetal-sonography"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-lungs",
        "name": "Absent/small lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-lungs"
      },
      {
        "slug": "genu-recurvatum",
        "name": "Back knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/genu-recurvatum"
      },
      {
        "slug": "barrel-shaped-chest",
        "name": "Barrel-shaped chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/barrel-shaped-chest"
      },
      {
        "slug": "bell-shaped-thorax",
        "name": "Bell-shaped thorax",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bell-shaped-thorax"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "biconvex-vertebral-bodies",
        "name": "Biconvex vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/biconvex-vertebral-bodies"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "bowing-of-the-arm",
        "name": "Bowing of the arm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-the-arm"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "broad-clavicle",
        "name": "Broad collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-clavicle"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "cone-shaped-epiphysis",
        "name": "Cone-shaped end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cone-shaped-epiphysis"
      },
      {
        "slug": "cone-shaped-epiphyses-of-the-phalanges-of-the-hand",
        "name": "Cone-shaped end part of finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cone-shaped-epiphyses-of-the-phalanges-of-the-hand"
      },
      {
        "slug": "coronal-cleft-vertebrae",
        "name": "Coronal cleft vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/coronal-cleft-vertebrae"
      },
      {
        "slug": "coxa-valga",
        "name": "Coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coxa-valga"
      },
      {
        "slug": "crescent-shaped-iliac-bone",
        "name": "Crescent-shaped iliac bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/crescent-shaped-iliac-bone"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "decreased-skull-ossification",
        "name": "Decreased bone formation of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-skull-ossification"
      },
      {
        "slug": "hypoplastic-nasal-bridge",
        "name": "Decreased size of nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplastic-nasal-bridge"
      },
      {
        "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": "delayed-ossification-of-carpal-bones",
        "name": "Delayed maturation of wrist bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-ossification-of-carpal-bones"
      },
      {
        "slug": "dentinogenesis-imperfecta",
        "name": "Dentinogenesis imperfecta",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dentinogenesis-imperfecta"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "disproportionate-short-trunk-short-stature",
        "name": "Disproportionate short-trunked short stature",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/disproportionate-short-trunk-short-stature"
      },
      {
        "slug": "mesomelia",
        "name": "Disproportionately short middle portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mesomelia"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "femoral-hernia",
        "name": "Femoral hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/femoral-hernia"
      },
      {
        "slug": "flared-iliac-wing",
        "name": "Flared iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flared-iliac-wing"
      },
      {
        "slug": "flaring-of-rib-cage",
        "name": "Flaring of rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flaring-of-rib-cage"
      },
      {
        "slug": "flat-acetabular-roof",
        "name": "Flat acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flat-acetabular-roof"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "hypoplastic-ischia",
        "name": "Hypoplastic ischia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ischia"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "slug": "irregular-epiphyses",
        "name": "Irregular end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-epiphyses"
      },
      {
        "slug": "lethal-skeletal-dysplasia",
        "name": "Lethal skeletal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethal-skeletal-dysplasia"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mesomelic-short-stature",
        "name": "Mesomelic short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/mesomelic-short-stature"
      },
      {
        "slug": "metaphyseal-cupping",
        "name": "Metaphyseal cupping",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-cupping"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-rib-fractures",
        "name": "Multiple rib fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multiple-rib-fractures"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "narrow-face",
        "name": "Narrow face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-face"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "polycystic-kidney-dysplasia",
        "name": "Polycystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "protruding-tongue",
        "name": "Protruding tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/protruding-tongue"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "relative-macrocephaly",
        "name": "Relatively large head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/relative-macrocephaly"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-limb-shortening",
        "name": "Severe limb shortening",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-limb-shortening"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "short-clavicles",
        "name": "Short collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-clavicles"
      },
      {
        "slug": "short-phalanx-of-finger",
        "name": "Short finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-phalanx-of-finger"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-palm",
        "name": "Short palm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-palm"
      },
      {
        "slug": "short-ribs",
        "name": "Short ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-metacarpal",
        "name": "Shortened long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "hypoplastic-sacrum",
        "name": "Small sacrum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplastic-sacrum"
      },
      {
        "slug": "hypoplastic-scapulae",
        "name": "Small shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-scapulae"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "spondylometaphyseal-dysplasia",
        "name": "Spondylometaphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spondylometaphyseal-dysplasia"
      },
      {
        "slug": "square-pelvis-bone",
        "name": "Square pelvis bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/square-pelvis-bone"
      },
      {
        "slug": "turricephaly",
        "name": "Tall shaped head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/turricephaly"
      },
      {
        "slug": "thickened-nuchal-skin-fold",
        "name": "Thickened skin folds of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypoplasia-of-the-radius",
        "name": "Underdeveloped outer large forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-radius"
      },
      {
        "slug": "unossified-vertebral-bodies",
        "name": "Unossified vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/unossified-vertebral-bodies"
      }
    ],
    "related": [
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "name": "collagen type II alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col2a1"
      },
      {
        "slug": "gdf5",
        "symbol": "GDF5",
        "name": "growth differentiation factor 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gdf5"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "name": "solute carrier family 26 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/slc26a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}