{
  "url": "https://dantelabs.com/nl/genes/haao",
  "gene": {
    "slug": "haao",
    "symbol": "HAAO",
    "name": "3-hydroxyanthranilate 3,4-dioxygenase",
    "hgnc": "HGNC:4796",
    "summary": null,
    "location": "2p21",
    "locusType": "gene with protein product",
    "aliases": [
      "3-HAO",
      "HAO"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000162882",
    "entrezId": 23498,
    "omim": [
      "604521"
    ],
    "uniprot": [
      "P46952"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 42767089,
      "end": 42792583,
      "strand": "-",
      "ensemblTranscript": "ENST00000294973.11",
      "refseqTranscript": "NM_012205.3",
      "ensemblProtein": "ENSP00000294973.6",
      "refseqProtein": "NP_036337.2",
      "exons": [
        {
          "start": 42767089,
          "end": 42767515
        },
        {
          "start": 42767595,
          "end": 42767677
        },
        {
          "start": 42767860,
          "end": 42767928
        },
        {
          "start": 42769713,
          "end": 42769858
        },
        {
          "start": 42770143,
          "end": 42770186
        },
        {
          "start": 42770493,
          "end": 42770582
        },
        {
          "start": 42783314,
          "end": 42783420
        },
        {
          "start": 42783784,
          "end": 42783867
        },
        {
          "start": 42788529,
          "end": 42788607
        },
        {
          "start": 42792457,
          "end": 42792583
        }
      ],
      "cds": {
        "start": 42767437,
        "end": 42792536
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 42994229,
      "end": 43019733,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42279836,
      "end": 43279835,
      "genes": [
        {
          "symbol": "EML4",
          "ensemblId": "ENSG00000143924",
          "biotype": "protein_coding",
          "start": 42169312,
          "end": 42332548,
          "strand": "+",
          "slug": "eml4"
        },
        {
          "symbol": "COX7A2L",
          "ensemblId": "ENSG00000115944",
          "biotype": "protein_coding",
          "start": 42328021,
          "end": 42425088,
          "strand": "-",
          "slug": "cox7a2l"
        },
        {
          "symbol": "KCNG3",
          "ensemblId": "ENSG00000171126",
          "biotype": "protein_coding",
          "start": 42442017,
          "end": 42494916,
          "strand": "-",
          "slug": "kcng3"
        },
        {
          "symbol": "MTA3",
          "ensemblId": "ENSG00000057935",
          "biotype": "protein_coding",
          "start": 42494569,
          "end": 42756950,
          "strand": "+",
          "slug": "mta3"
        },
        {
          "symbol": "OXER1",
          "ensemblId": "ENSG00000162881",
          "biotype": "protein_coding",
          "start": 42762499,
          "end": 42764135,
          "strand": "-",
          "slug": "oxer1"
        },
        {
          "symbol": "ZFP36L2",
          "ensemblId": "ENSG00000152518",
          "biotype": "protein_coding",
          "start": 43221825,
          "end": 43226612,
          "strand": "-",
          "slug": "zfp36l2"
        },
        {
          "symbol": "THADA",
          "ensemblId": "ENSG00000115970",
          "biotype": "protein_coding",
          "start": 43230126,
          "end": 43596070,
          "strand": "-",
          "slug": "thada"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absence-of-the-sacrum",
        "name": "Absence of the sacrum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absence-of-the-sacrum"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "butterfly-vertebrae",
        "name": "Butterfly vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/butterfly-vertebrae"
      },
      {
        "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": "incomplete-partition-of-the-cochlea-type-ii",
        "name": "Incomplete partition of the cochlea type II",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/incomplete-partition-of-the-cochlea-type-ii"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "laryngeal-web",
        "name": "Laryngeal web",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/laryngeal-web"
      },
      {
        "slug": "mitral-stenosis",
        "name": "Mitral stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/mitral-stenosis"
      },
      {
        "slug": "aortic-valve-stenosis",
        "name": "Narrowing of aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/aortic-valve-stenosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "laryngomalacia",
        "name": "Softening of voice box tissue",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/laryngomalacia"
      },
      {
        "slug": "spinal-dysraphism",
        "name": "Spinal dysraphism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-dysraphism"
      },
      {
        "slug": "submucous-cleft-hard-palate",
        "name": "Submucous cleft hard palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate"
      },
      {
        "slug": "talipes",
        "name": "Talipes",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes"
      },
      {
        "slug": "tethered-cord",
        "name": "Tethered cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tethered-cord"
      },
      {
        "slug": "hypoplastic-left-ventricle",
        "name": "Underdeveloped left heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-left-ventricle"
      },
      {
        "slug": "unilateral-vocal-cord-paresis",
        "name": "Unilateral vocal cord paresis",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unilateral-vocal-cord-paresis"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}