{
  "url": "https://dantelabs.com/nl/genes/pthlh",
  "gene": {
    "slug": "pthlh",
    "symbol": "PTHLH",
    "name": "parathyroid hormone like hormone",
    "hgnc": "HGNC:9607",
    "summary": null,
    "location": "12p11.22",
    "locusType": "gene with protein product",
    "aliases": [
      "PTHRP",
      "HHM",
      "PLP",
      "PTHR"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000087494",
    "entrezId": 5744,
    "omim": [
      "168470"
    ],
    "uniprot": [
      "P12272"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 27958084,
      "end": 27972733,
      "strand": "-",
      "ensemblTranscript": "ENST00000545234.6",
      "refseqTranscript": "NM_198965.2",
      "ensemblProtein": "ENSP00000441765.1",
      "refseqProtein": "NP_945316.1",
      "exons": [
        {
          "start": 27958084,
          "end": 27958568
        },
        {
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          "end": 27963770
        },
        {
          "start": 27969394,
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        },
        {
          "start": 27970025,
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        },
        {
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        {
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        }
      ],
      "cds": {
        "start": 27958559,
        "end": 27969494
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 28111017,
      "end": 28125638,
      "strand": "-"
    },
    "neighbourhood": {
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      "end": 28465408,
      "genes": [
        {
          "symbol": "SMCO2",
          "ensemblId": "ENSG00000165935",
          "biotype": "protein_coding",
          "start": 27446736,
          "end": 27502873,
          "strand": "+",
          "slug": "smco2"
        },
        {
          "symbol": "PPFIBP1",
          "ensemblId": "ENSG00000110841",
          "biotype": "protein_coding",
          "start": 27523431,
          "end": 27696302,
          "strand": "+",
          "slug": "ppfibp1"
        },
        {
          "symbol": "REP15",
          "ensemblId": "ENSG00000174236",
          "biotype": "protein_coding",
          "start": 27696447,
          "end": 27697596,
          "strand": "+",
          "slug": "rep15"
        },
        {
          "symbol": "MRPS35",
          "ensemblId": "ENSG00000061794",
          "biotype": "protein_coding",
          "start": 27710796,
          "end": 27756301,
          "strand": "+",
          "slug": "mrps35"
        },
        {
          "symbol": "MANSC4",
          "ensemblId": "ENSG00000205693",
          "biotype": "protein_coding",
          "start": 27762291,
          "end": 27780236,
          "strand": "-",
          "slug": "mansc4"
        },
        {
          "symbol": "KLHL42",
          "ensemblId": "ENSG00000087448",
          "biotype": "protein_coding",
          "start": 27779415,
          "end": 27803040,
          "strand": "+",
          "slug": "klhl42"
        },
        {
          "symbol": "CCDC91",
          "ensemblId": "ENSG00000123106",
          "biotype": "protein_coding",
          "start": 28133249,
          "end": 28581511,
          "strand": "+",
          "slug": "ccdc91"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aplasia-hypoplasia-of-the-distal-phalanx-of-the-hallux",
        "name": "Absent/small outermost big toe bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-distal-phalanx-of-the-hallux"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-metatarsal",
        "name": "Short long bone of foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-metatarsal"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "type-e-brachydactyly",
        "name": "Type E brachydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/type-e-brachydactyly"
      },
      {
        "slug": "upper-limb-asymmetry",
        "name": "Unequal size of arms",
        "systems": [
          "abnormality-of-limbs",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upper-limb-asymmetry"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}