{
  "url": "https://dantelabs.com/sv/genes/arsl",
  "gene": {
    "slug": "arsl",
    "symbol": "ARSL",
    "name": "arylsulfatase L",
    "hgnc": "HGNC:719",
    "summary": null,
    "location": "Xp22.33",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "CDPX",
      "CDPX1",
      "ARSE"
    ],
    "ensemblId": "ENSG00000157399",
    "entrezId": 415,
    "omim": [
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    ],
    "uniprot": [
      "P51690"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 2934521,
      "end": 2964341,
      "strand": "-",
      "ensemblTranscript": "ENST00000381134.9",
      "refseqTranscript": "NM_000047.3",
      "ensemblProtein": "ENSP00000370526.3",
      "refseqProtein": "NP_000038.2",
      "exons": [
        {
          "start": 2934521,
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        {
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      ],
      "cds": {
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        "end": 2960400
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 2852699,
      "end": 2886286,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 3449430,
      "genes": [
        {
          "symbol": "DHRSX",
          "ensemblId": "ENSG00000169084",
          "biotype": "protein_coding",
          "start": 2217548,
          "end": 2502805,
          "strand": "-",
          "slug": "dhrsx"
        },
        {
          "symbol": "ZBED1",
          "ensemblId": "ENSG00000214717",
          "biotype": "protein_coding",
          "start": 2486169,
          "end": 2502862,
          "strand": "-",
          "slug": "zbed1"
        },
        {
          "symbol": "CD99",
          "ensemblId": "ENSG00000002586",
          "biotype": "protein_coding",
          "start": 2690988,
          "end": 2741312,
          "strand": "+",
          "slug": "cd99"
        },
        {
          "symbol": "XG",
          "ensemblId": "ENSG00000124343",
          "biotype": "protein_coding",
          "start": 2751798,
          "end": 2816500,
          "strand": "+",
          "slug": "xg"
        },
        {
          "symbol": "GYG2",
          "ensemblId": "ENSG00000056998",
          "biotype": "protein_coding",
          "start": 2828571,
          "end": 2911025,
          "strand": "+",
          "slug": "gyg2"
        },
        {
          "symbol": "ARSD",
          "ensemblId": "ENSG00000006756",
          "biotype": "protein_coding",
          "start": 2903972,
          "end": 2929405,
          "strand": "-",
          "slug": "arsd"
        },
        {
          "symbol": "ARSH",
          "ensemblId": "ENSG00000205667",
          "biotype": "protein_coding",
          "start": 3006546,
          "end": 3034111,
          "strand": "+",
          "slug": "arsh"
        },
        {
          "symbol": "ARSF",
          "ensemblId": "ENSG00000062096",
          "biotype": "protein_coding",
          "start": 3040235,
          "end": 3112822,
          "strand": "+",
          "slug": "arsf"
        },
        {
          "symbol": "MXRA5",
          "ensemblId": "ENSG00000101825",
          "biotype": "protein_coding",
          "start": 3308228,
          "end": 3347100,
          "strand": "-",
          "slug": "mxra5"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-bronchus-morphology",
        "name": "Abnormal bronchus morphology",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-bronchus-morphology"
      },
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "abnormal-hyoid-bone-morphology",
        "name": "Abnormal hyoid bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-hyoid-bone-morphology"
      },
      {
        "slug": "abnormal-ossification-involving-the-femoral-head-and-neck",
        "name": "Abnormal maturation of thigh bone head and neck",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-ossification-involving-the-femoral-head-and-neck"
      },
      {
        "slug": "abnormality-of-the-costochondral-junction",
        "name": "Abnormality of the costochondral junction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-costochondral-junction"
      },
      {
        "slug": "abnormality-of-the-vertebral-column",
        "name": "Abnormality of the vertebral column",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-column"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "atlantoaxial-instability",
        "name": "Atlantoaxial instability",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atlantoaxial-instability"
      },
      {
        "slug": "nasal-congestion",
        "name": "Blockage of nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nasal-congestion"
      },
      {
        "slug": "broad-nasal-tip",
        "name": "Broad nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-nasal-tip"
      },
      {
        "slug": "butterfly-vertebrae",
        "name": "Butterfly vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/butterfly-vertebrae"
      },
      {
        "slug": "c1-c2-subluxation",
        "name": "C1-C2 subluxation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/c1-c2-subluxation"
      },
      {
        "slug": "calcaneal-epiphyseal-stippling",
        "name": "Calcaneal epiphyseal stippling",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/calcaneal-epiphyseal-stippling"
      },
      {
        "slug": "central-apnea",
        "name": "Central apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-apnea"
      },
      {
        "slug": "cervical-cord-compression",
        "name": "Cervical cord compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervical-cord-compression"
      },
      {
        "slug": "cervical-spinal-canal-stenosis",
        "name": "Cervical spinal canal stenosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervical-spinal-canal-stenosis"
      },
      {
        "slug": "cervical-spine-instability",
        "name": "Cervical spine instability",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervical-spine-instability"
      },
      {
        "slug": "cervical-vertebral-dysplasia",
        "name": "Cervical vertebral dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervical-vertebral-dysplasia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coronal-cleft-vertebrae",
        "name": "Coronal cleft vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coronal-cleft-vertebrae"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hypoplasia-of-the-anterior-nasal-spine",
        "name": "Hypoplasia of the anterior nasal spine",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-anterior-nasal-spine"
      },
      {
        "slug": "hypoplastic-cervical-vertebrae",
        "name": "Hypoplastic cervical vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-cervical-vertebrae"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "laryngeal-calcification",
        "name": "Laryngeal calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/laryngeal-calcification"
      },
      {
        "slug": "anosmia",
        "name": "Lost smell",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/anosmia"
      },
      {
        "slug": "mixed-hearing-impairment",
        "name": "Mixed hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mixed-hearing-impairment"
      },
      {
        "slug": "spinal-canal-stenosis",
        "name": "Narrow spinal canal",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spinal-canal-stenosis"
      },
      {
        "slug": "pulmonary-artery-stenosis",
        "name": "Narrowing of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis"
      },
      {
        "slug": "tracheal-stenosis",
        "name": "Narrowing of windpipe",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheal-stenosis"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "optic-disc-hypoplasia",
        "name": "Optic disc hypoplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-disc-hypoplasia"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "proportionate-short-stature",
        "name": "Proportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proportionate-short-stature"
      },
      {
        "slug": "punctate-vertebral-calcifications",
        "name": "Punctate vertebral calcifications",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/punctate-vertebral-calcifications"
      },
      {
        "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": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "cervical-kyphosis",
        "name": "Rounded neck",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervical-kyphosis"
      },
      {
        "slug": "short-columella",
        "name": "Short columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-columella"
      },
      {
        "slug": "short-nasal-septum",
        "name": "Short nasal septum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-nasal-septum"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-distal-phalanx-of-toe",
        "name": "Short outermost bone of toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-toe"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "epiphyseal-stippling",
        "name": "Speckled calcifications in end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epiphyseal-stippling"
      },
      {
        "slug": "epiphyseal-stippling-of-toe-phalanges",
        "name": "Speckled calcifications in long toe bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epiphyseal-stippling-of-toe-phalanges"
      },
      {
        "slug": "stippling-of-the-epiphyses-of-the-distal-phalanges-of-the-hand",
        "name": "Speckled calcifications in the end part of the outermost hand bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stippling-of-the-epiphyses-of-the-distal-phalanges-of-the-hand"
      },
      {
        "slug": "thick-nasal-alae",
        "name": "Thick nasal alae",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thick-nasal-alae"
      },
      {
        "slug": "tracheal-calcification",
        "name": "Tracheal calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheal-calcification"
      },
      {
        "slug": "vertebral-hypoplasia",
        "name": "Underdeveloped vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertebral-hypoplasia"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}