{
  "url": "https://dantelabs.com/traits/achalasia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "achalasia",
    "id": "HP:0002571",
    "name": "Achalasia",
    "definition": "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.",
    "synonyms": [
      "Achalasia of the esophagus",
      "Achalasia of the oesophagus"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-digestive-system",
        "name": "Abnormality of the digestive system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-digestive-system"
      }
    ],
    "broader": [
      {
        "slug": "ineffective-esophageal-peristalsis",
        "name": "Ineffective esophageal peristalsis",
        "url": "https://dantelabs.com/traits/ineffective-esophageal-peristalsis"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "aaas",
        "symbol": "AAAS",
        "hgnc": "HGNC:13666",
        "name": "aladin WD repeat nucleoporin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aaas"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "bud13",
        "symbol": "BUD13",
        "hgnc": "HGNC:28199",
        "name": "BUD13 spliceosome associated protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud13"
      },
      {
        "slug": "gucy1a1",
        "symbol": "GUCY1A1",
        "hgnc": "HGNC:4685",
        "name": "guanylate cyclase 1 soluble subunit alpha 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gucy1a1"
      },
      {
        "slug": "meis2",
        "symbol": "MEIS2",
        "hgnc": "HGNC:7001",
        "name": "Meis homeobox 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meis2"
      },
      {
        "slug": "myo1h",
        "symbol": "MYO1H",
        "hgnc": "HGNC:13879",
        "name": "myosin IH",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo1h"
      },
      {
        "slug": "gmppa",
        "symbol": "GMPPA",
        "hgnc": "HGNC:22923",
        "name": "GDP-mannose pyrophosphorylase A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gmppa"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "trappc11",
        "symbol": "TRAPPC11",
        "hgnc": "HGNC:25751",
        "name": "trafficking protein particle complex subunit 11",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trappc11"
      },
      {
        "slug": "col4a5",
        "symbol": "COL4A5",
        "hgnc": "HGNC:2207",
        "name": "collagen type IV alpha 5 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a5"
      },
      {
        "slug": "col4a6",
        "symbol": "COL4A6",
        "hgnc": "HGNC:2208",
        "name": "collagen type IV alpha 6 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a6"
      },
      {
        "slug": "mrap",
        "symbol": "MRAP",
        "hgnc": "HGNC:1304",
        "name": "melanocortin 2 receptor accessory protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mrap"
      },
      {
        "slug": "ndc1",
        "symbol": "NDC1",
        "hgnc": "HGNC:25525",
        "name": "NDC1 transmembrane nucleoporin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndc1"
      },
      {
        "slug": "gla",
        "symbol": "GLA",
        "hgnc": "HGNC:4296",
        "name": "galactosidase alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gla"
      },
      {
        "slug": "samd9",
        "symbol": "SAMD9",
        "hgnc": "HGNC:1348",
        "name": "sterile alpha motif domain containing 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samd9"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "hgnc": "HGNC:11364",
        "name": "signal transducer and activator of transcription 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat3"
      },
      {
        "slug": "flvcr1",
        "symbol": "FLVCR1",
        "hgnc": "HGNC:24682",
        "name": "FLVCR choline and heme transporter 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr1"
      },
      {
        "slug": "ivns1abp",
        "symbol": "IVNS1ABP",
        "hgnc": "HGNC:16951",
        "name": "influenza virus NS1A binding protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ivns1abp"
      }
    ]
  }
}