{
  "url": "https://dantelabs.com/traits/aganglionic-megacolon",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "aganglionic-megacolon",
    "id": "HP:0002251",
    "name": "Enlarged colon lacking nerve cells",
    "label": "Aganglionic megacolon",
    "definition": "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.",
    "synonyms": [
      "Hirschsprung megacolon"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-digestive-system",
        "name": "Abnormality of the digestive system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-digestive-system"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-enteric-ganglion-morphology",
        "name": "Abnormal enteric ganglion morphology",
        "url": "https://dantelabs.com/traits/abnormal-enteric-ganglion-morphology"
      },
      {
        "slug": "megacolon",
        "name": "Megacolon",
        "url": "https://dantelabs.com/traits/megacolon"
      }
    ],
    "narrower": [
      {
        "slug": "long-segment-aganglionic-megacolon",
        "name": "Long-segment aganglionic megacolon",
        "genes": 2,
        "url": "https://dantelabs.com/traits/long-segment-aganglionic-megacolon"
      },
      {
        "slug": "short-segment-aganglionic-megacolon",
        "name": "Short-segment aganglionic megacolon",
        "genes": 2,
        "url": "https://dantelabs.com/traits/short-segment-aganglionic-megacolon"
      },
      {
        "slug": "total-colonic-aganglionosis",
        "name": "Total colonic aganglionosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/total-colonic-aganglionosis"
      }
    ],
    "genes": [
      {
        "slug": "ece1",
        "symbol": "ECE1",
        "hgnc": "HGNC:3146",
        "name": "endothelin converting enzyme 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ece1"
      },
      {
        "slug": "edn3",
        "symbol": "EDN3",
        "hgnc": "HGNC:3178",
        "name": "endothelin 3",
        "frequency": "obligate",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/edn3"
      },
      {
        "slug": "ednrb",
        "symbol": "EDNRB",
        "hgnc": "HGNC:3180",
        "name": "endothelin receptor type B",
        "frequency": "obligate",
        "diseases": 6,
        "url": "https://dantelabs.com/genes/ednrb"
      },
      {
        "slug": "erbb3",
        "symbol": "ERBB3",
        "hgnc": "HGNC:3431",
        "name": "erb-b2 receptor tyrosine kinase 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/erbb3"
      },
      {
        "slug": "gdnf",
        "symbol": "GDNF",
        "hgnc": "HGNC:4232",
        "name": "glial cell derived neurotrophic factor",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/gdnf"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "hgnc": "HGNC:61",
        "name": "ATP binding cassette subfamily D member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcd1"
      },
      {
        "slug": "ascl1",
        "symbol": "ASCL1",
        "hgnc": "HGNC:738",
        "name": "achaete-scute family bHLH transcription factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ascl1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "erbb2",
        "symbol": "ERBB2",
        "hgnc": "HGNC:3430",
        "name": "erb-b2 receptor tyrosine kinase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erbb2"
      },
      {
        "slug": "kifbp",
        "symbol": "KIFBP",
        "hgnc": "HGNC:23419",
        "name": "kinesin family binding protein",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kifbp"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "nrtn",
        "symbol": "NRTN",
        "hgnc": "HGNC:8007",
        "name": "neurturin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrtn"
      },
      {
        "slug": "phox2b",
        "symbol": "PHOX2B",
        "hgnc": "HGNC:9143",
        "name": "paired like homeobox 2B",
        "frequency": "very-frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/phox2b"
      },
      {
        "slug": "ret",
        "symbol": "RET",
        "hgnc": "HGNC:9967",
        "name": "ret proto-oncogene",
        "frequency": "very-frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/ret"
      },
      {
        "slug": "sema3c",
        "symbol": "SEMA3C",
        "hgnc": "HGNC:10725",
        "name": "semaphorin 3C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3c"
      },
      {
        "slug": "sema3d",
        "symbol": "SEMA3D",
        "hgnc": "HGNC:10726",
        "name": "semaphorin 3D",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3d"
      },
      {
        "slug": "smo",
        "symbol": "SMO",
        "hgnc": "HGNC:11119",
        "name": "smoothened, frizzled class receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smo"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "hgnc": "HGNC:11190",
        "name": "SRY-box transcription factor 10",
        "frequency": "very-frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/sox10"
      },
      {
        "slug": "srebf1",
        "symbol": "SREBF1",
        "hgnc": "HGNC:11289",
        "name": "sterol regulatory element binding transcription factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srebf1"
      },
      {
        "slug": "ddx3x",
        "symbol": "DDX3X",
        "hgnc": "HGNC:2745",
        "name": "DEAD-box helicase 3 X-linked",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddx3x"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "l1cam",
        "symbol": "L1CAM",
        "hgnc": "HGNC:6470",
        "name": "L1 cell adhesion molecule",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/l1cam"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "pgap2",
        "symbol": "PGAP2",
        "hgnc": "HGNC:17893",
        "name": "post-GPI attachment to proteins 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pgap2"
      },
      {
        "slug": "pigo",
        "symbol": "PIGO",
        "hgnc": "HGNC:23215",
        "name": "phosphatidylinositol glycan anchor biosynthesis class O",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pigo"
      },
      {
        "slug": "sh2b1",
        "symbol": "SH2B1",
        "hgnc": "HGNC:30417",
        "name": "SH2B adaptor protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh2b1"
      },
      {
        "slug": "slc6a8",
        "symbol": "SLC6A8",
        "hgnc": "HGNC:11055",
        "name": "solute carrier family 6 member 8",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc6a8"
      },
      {
        "slug": "zeb2",
        "symbol": "ZEB2",
        "hgnc": "HGNC:14881",
        "name": "zinc finger E-box binding homeobox 2",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/zeb2"
      },
      {
        "slug": "actg2",
        "symbol": "ACTG2",
        "hgnc": "HGNC:145",
        "name": "actin gamma 2, smooth muscle",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actg2"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "hgnc": "HGNC:21575",
        "name": "Abelson helper integration site 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ahi1"
      },
      {
        "slug": "arl13b",
        "symbol": "ARL13B",
        "hgnc": "HGNC:25419",
        "name": "ARF like GTPase 13B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arl13b"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "hgnc": "HGNC:694",
        "name": "ARF like GTPase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "hgnc": "HGNC:13210",
        "name": "ARF like GTPase 6",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arl6"
      },
      {
        "slug": "armc9",
        "symbol": "ARMC9",
        "hgnc": "HGNC:20730",
        "name": "armadillo repeat containing 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/armc9"
      },
      {
        "slug": "arvcf",
        "symbol": "ARVCF",
        "hgnc": "HGNC:728",
        "name": "ARVCF delta catenin family member",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arvcf"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "hgnc": "HGNC:886",
        "name": "ATRX chromatin remodeler",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atrx"
      },
      {
        "slug": "b9d1",
        "symbol": "B9D1",
        "hgnc": "HGNC:24123",
        "name": "B9 domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b9d1"
      },
      {
        "slug": "b9d2",
        "symbol": "B9D2",
        "hgnc": "HGNC:28636",
        "name": "B9 domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b9d2"
      },
      {
        "slug": "bbs1",
        "symbol": "BBS1",
        "hgnc": "HGNC:966",
        "name": "Bardet-Biedl syndrome 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bbs1"
      },
      {
        "slug": "bdnf",
        "symbol": "BDNF",
        "hgnc": "HGNC:1033",
        "name": "brain derived neurotrophic factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bdnf"
      },
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "hgnc": "HGNC:1100",
        "name": "BRCA1 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "hgnc": "HGNC:20473",
        "name": "BRCA1 interacting DNA helicase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brip1"
      },
      {
        "slug": "cby1",
        "symbol": "CBY1",
        "hgnc": "HGNC:1307",
        "name": "chibby 1, beta catenin antagonist",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cby1"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "hgnc": "HGNC:29253",
        "name": "coiled-coil and C2 domain containing 2A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cc2d2a"
      },
      {
        "slug": "ccdc28b",
        "symbol": "CCDC28B",
        "hgnc": "HGNC:28163",
        "name": "coiled-coil domain containing 28B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccdc28b"
      },
      {
        "slug": "cep104",
        "symbol": "CEP104",
        "hgnc": "HGNC:24866",
        "name": "centrosomal protein 104",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep104"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "hgnc": "HGNC:12370",
        "name": "centrosomal protein 41",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep41"
      },
      {
        "slug": "comt",
        "symbol": "COMT",
        "hgnc": "HGNC:2228",
        "name": "catechol-O-methyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comt"
      },
      {
        "slug": "cplane1",
        "symbol": "CPLANE1",
        "hgnc": "HGNC:25801",
        "name": "ciliogenesis and planar polarity effector complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplane1"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "hgnc": "HGNC:26193",
        "name": "centrosome and spindle pole associated protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cspp1"
      },
      {
        "slug": "ddx59",
        "symbol": "DDX59",
        "hgnc": "HGNC:25360",
        "name": "DEAD-box helicase 59",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ddx59"
      },
      {
        "slug": "dhcr7",
        "symbol": "DHCR7",
        "hgnc": "HGNC:2860",
        "name": "7-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dhcr7"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "hgnc": "HGNC:3582",
        "name": "FA complementation group A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanca"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "hgnc": "HGNC:3584",
        "name": "FA complementation group C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancc"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "hgnc": "HGNC:3585",
        "name": "FA complementation group D2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancd2"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "hgnc": "HGNC:3586",
        "name": "FA complementation group E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fance"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "hgnc": "HGNC:3587",
        "name": "FA complementation group F",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancf"
      },
      {
        "slug": "fancg",
        "symbol": "FANCG",
        "hgnc": "HGNC:3588",
        "name": "FA complementation group G",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancg"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "fancl",
        "symbol": "FANCL",
        "hgnc": "HGNC:20748",
        "name": "FA complementation group L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancl"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "hgnc": "HGNC:23168",
        "name": "FA complementation group M",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancm"
      },
      {
        "slug": "foxf1",
        "symbol": "FOXF1",
        "hgnc": "HGNC:3809",
        "name": "forkhead box F1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxf1"
      },
      {
        "slug": "gp1bb",
        "symbol": "GP1BB",
        "hgnc": "HGNC:4440",
        "name": "glycoprotein Ib platelet subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp1bb"
      },
      {
        "slug": "hira",
        "symbol": "HIRA",
        "hgnc": "HGNC:4916",
        "name": "histone cell cycle regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hira"
      },
      {
        "slug": "hyls1",
        "symbol": "HYLS1",
        "hgnc": "HGNC:26558",
        "name": "HYLS1 centriolar and ciliogenesis associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hyls1"
      },
      {
        "slug": "ift74",
        "symbol": "IFT74",
        "hgnc": "HGNC:21424",
        "name": "intraflagellar transport 74",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift74"
      },
      {
        "slug": "inpp5e",
        "symbol": "INPP5E",
        "hgnc": "HGNC:21474",
        "name": "inositol polyphosphate-5-phosphatase E",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/inpp5e"
      },
      {
        "slug": "jmjd1c",
        "symbol": "JMJD1C",
        "hgnc": "HGNC:12313",
        "name": "jumonji domain containing 1C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jmjd1c"
      },
      {
        "slug": "katnip",
        "symbol": "KATNIP",
        "hgnc": "HGNC:29068",
        "name": "katanin interacting protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/katnip"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "hgnc": "HGNC:19960",
        "name": "KIAA0586",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0586"
      },
      {
        "slug": "kiaa0753",
        "symbol": "KIAA0753",
        "hgnc": "HGNC:29110",
        "name": "KIAA0753",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0753"
      },
      {
        "slug": "kit",
        "symbol": "KIT",
        "hgnc": "HGNC:6342",
        "name": "KIT proto-oncogene, receptor tyrosine kinase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kit"
      },
      {
        "slug": "kitlg",
        "symbol": "KITLG",
        "hgnc": "HGNC:6343",
        "name": "KIT ligand",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kitlg"
      },
      {
        "slug": "lbx1",
        "symbol": "LBX1",
        "hgnc": "HGNC:16960",
        "name": "ladybird homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lbx1"
      },
      {
        "slug": "mad2l2",
        "symbol": "MAD2L2",
        "hgnc": "HGNC:6764",
        "name": "mitotic arrest deficient 2 like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mad2l2"
      },
      {
        "slug": "mkks",
        "symbol": "MKKS",
        "hgnc": "HGNC:7108",
        "name": "MKKS centrosomal shuttling protein",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/mkks"
      },
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "hgnc": "HGNC:7121",
        "name": "MKS transition zone complex subunit 1",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/mks1"
      },
      {
        "slug": "myo1h",
        "symbol": "MYO1H",
        "hgnc": "HGNC:13879",
        "name": "myosin IH",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo1h"
      },
      {
        "slug": "nphp1",
        "symbol": "NPHP1",
        "hgnc": "HGNC:7905",
        "name": "nephrocystin 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nphp1"
      },
      {
        "slug": "ofd1",
        "symbol": "OFD1",
        "hgnc": "HGNC:2567",
        "name": "OFD1 centriole and centriolar satellite protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ofd1"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "hgnc": "HGNC:8617",
        "name": "paired box 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pax3"
      },
      {
        "slug": "pde6d",
        "symbol": "PDE6D",
        "hgnc": "HGNC:8788",
        "name": "phosphodiesterase 6D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde6d"
      },
      {
        "slug": "pgap3",
        "symbol": "PGAP3",
        "hgnc": "HGNC:23719",
        "name": "post-GPI attachment to proteins phospholipase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgap3"
      },
      {
        "slug": "pibf1",
        "symbol": "PIBF1",
        "hgnc": "HGNC:23352",
        "name": "progesterone immunomodulatory binding factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pibf1"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "hgnc": "HGNC:8966",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigl"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "hgnc": "HGNC:8967",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pign"
      },
      {
        "slug": "pigv",
        "symbol": "PIGV",
        "hgnc": "HGNC:26031",
        "name": "phosphatidylinositol glycan anchor biosynthesis class V",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pigv"
      },
      {
        "slug": "pigw",
        "symbol": "PIGW",
        "hgnc": "HGNC:23213",
        "name": "phosphatidylinositol glycan anchor biosynthesis class W",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigw"
      },
      {
        "slug": "pigy",
        "symbol": "PIGY",
        "hgnc": "HGNC:28213",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Y",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigy"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "hgnc": "HGNC:29168",
        "name": "RPGRIP1 like",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1l"
      },
      {
        "slug": "rreb1",
        "symbol": "RREB1",
        "hgnc": "HGNC:10449",
        "name": "ras responsive element binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rreb1"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "sec24c",
        "symbol": "SEC24C",
        "hgnc": "HGNC:10705",
        "name": "SEC24 homolog C, COPII component",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sec24c"
      },
      {
        "slug": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "slx4",
        "symbol": "SLX4",
        "hgnc": "HGNC:23845",
        "name": "SLX4 structure-specific endonuclease subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slx4"
      },
      {
        "slug": "snai2",
        "symbol": "SNAI2",
        "hgnc": "HGNC:11094",
        "name": "snail family transcriptional repressor 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/snai2"
      },
      {
        "slug": "sufu",
        "symbol": "SUFU",
        "hgnc": "HGNC:16466",
        "name": "SUFU negative regulator of hedgehog signaling",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sufu"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "tctn1",
        "symbol": "TCTN1",
        "hgnc": "HGNC:26113",
        "name": "tectonic family member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn1"
      },
      {
        "slug": "tctn2",
        "symbol": "TCTN2",
        "hgnc": "HGNC:25774",
        "name": "tectonic family member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn2"
      },
      {
        "slug": "tctn3",
        "symbol": "TCTN3",
        "hgnc": "HGNC:24519",
        "name": "tectonic family member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn3"
      },
      {
        "slug": "tmem138",
        "symbol": "TMEM138",
        "hgnc": "HGNC:26944",
        "name": "transmembrane protein 138",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem138"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "tmem218",
        "symbol": "TMEM218",
        "hgnc": "HGNC:27344",
        "name": "transmembrane protein 218",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem218"
      },
      {
        "slug": "tmem231",
        "symbol": "TMEM231",
        "hgnc": "HGNC:37234",
        "name": "transmembrane protein 231",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem231"
      },
      {
        "slug": "tmem237",
        "symbol": "TMEM237",
        "hgnc": "HGNC:14432",
        "name": "transmembrane protein 237",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tmem237"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "togaram1",
        "symbol": "TOGARAM1",
        "hgnc": "HGNC:19959",
        "name": "TOG array regulator of axonemal microtubules 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/togaram1"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyr"
      },
      {
        "slug": "ube2t",
        "symbol": "UBE2T",
        "hgnc": "HGNC:25009",
        "name": "ubiquitin conjugating enzyme E2 T",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube2t"
      },
      {
        "slug": "ufd1",
        "symbol": "UFD1",
        "hgnc": "HGNC:12520",
        "name": "ubiquitin recognition factor in ER associated degradation 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufd1"
      },
      {
        "slug": "xrcc2",
        "symbol": "XRCC2",
        "hgnc": "HGNC:12829",
        "name": "X-ray repair cross complementing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc2"
      },
      {
        "slug": "znf423",
        "symbol": "ZNF423",
        "hgnc": "HGNC:16762",
        "name": "zinc finger protein 423",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf423"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "hgnc": "HGNC:24036",
        "name": "APC regulator of Wnt signaling pathway 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apc2"
      },
      {
        "slug": "bbip1",
        "symbol": "BBIP1",
        "hgnc": "HGNC:28093",
        "name": "BBSome interacting protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbip1"
      },
      {
        "slug": "bbs10",
        "symbol": "BBS10",
        "hgnc": "HGNC:26291",
        "name": "Bardet-Biedl syndrome 10",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs10"
      },
      {
        "slug": "bbs12",
        "symbol": "BBS12",
        "hgnc": "HGNC:26648",
        "name": "Bardet-Biedl syndrome 12",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs12"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "hgnc": "HGNC:967",
        "name": "Bardet-Biedl syndrome 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs2"
      },
      {
        "slug": "bbs4",
        "symbol": "BBS4",
        "hgnc": "HGNC:969",
        "name": "Bardet-Biedl syndrome 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs4"
      },
      {
        "slug": "bbs5",
        "symbol": "BBS5",
        "hgnc": "HGNC:970",
        "name": "Bardet-Biedl syndrome 5",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs5"
      },
      {
        "slug": "bbs7",
        "symbol": "BBS7",
        "hgnc": "HGNC:18758",
        "name": "Bardet-Biedl syndrome 7",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs7"
      },
      {
        "slug": "bbs9",
        "symbol": "BBS9",
        "hgnc": "HGNC:30000",
        "name": "Bardet-Biedl syndrome 9",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bbs9"
      },
      {
        "slug": "cep19",
        "symbol": "CEP19",
        "hgnc": "HGNC:28209",
        "name": "centrosomal protein 19",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep19"
      },
      {
        "slug": "cfap418",
        "symbol": "CFAP418",
        "hgnc": "HGNC:27232",
        "name": "cilia and flagella associated protein 418",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap418"
      },
      {
        "slug": "ift172",
        "symbol": "IFT172",
        "hgnc": "HGNC:30391",
        "name": "intraflagellar transport 172",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift172"
      },
      {
        "slug": "ift27",
        "symbol": "IFT27",
        "hgnc": "HGNC:18626",
        "name": "intraflagellar transport 27",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift27"
      },
      {
        "slug": "lztfl1",
        "symbol": "LZTFL1",
        "hgnc": "HGNC:6741",
        "name": "leucine zipper transcription factor like 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lztfl1"
      },
      {
        "slug": "nsd1",
        "symbol": "NSD1",
        "hgnc": "HGNC:14234",
        "name": "nuclear receptor binding SET domain protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd1"
      },
      {
        "slug": "scaper",
        "symbol": "SCAPER",
        "hgnc": "HGNC:13081",
        "name": "S-phase cyclin A associated protein in the ER",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scaper"
      },
      {
        "slug": "sclt1",
        "symbol": "SCLT1",
        "hgnc": "HGNC:26406",
        "name": "sodium channel and clathrin linker 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sclt1"
      },
      {
        "slug": "sdccag8",
        "symbol": "SDCCAG8",
        "hgnc": "HGNC:10671",
        "name": "SHH signaling and ciliogenesis regulator SDCCAG8",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdccag8"
      },
      {
        "slug": "tcf4",
        "symbol": "TCF4",
        "hgnc": "HGNC:11634",
        "name": "transcription factor 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcf4"
      },
      {
        "slug": "trim32",
        "symbol": "TRIM32",
        "hgnc": "HGNC:16380",
        "name": "tripartite motif containing 32",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim32"
      },
      {
        "slug": "ttc8",
        "symbol": "TTC8",
        "hgnc": "HGNC:20087",
        "name": "tetratricopeptide repeat domain 8",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttc8"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "wdpcp",
        "symbol": "WDPCP",
        "hgnc": "HGNC:28027",
        "name": "WD repeat containing planar cell polarity effector",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdpcp"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "naa10",
        "symbol": "NAA10",
        "hgnc": "HGNC:18704",
        "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naa10"
      },
      {
        "slug": "sf3b4",
        "symbol": "SF3B4",
        "hgnc": "HGNC:10771",
        "name": "splicing factor 3b subunit 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sf3b4"
      }
    ]
  }
}