{
  "url": "https://dantelabs.com/traits/abnormal-intestine-morphology",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-intestine-morphology",
    "id": "HP:0002242",
    "name": "Abnormality of the intestine",
    "label": "Abnormal intestine morphology",
    "definition": "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.",
    "synonyms": [
      "Enteropathy"
    ],
    "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": "abnormal-gastrointestinal-tract-morphology",
        "name": "Abnormal shape of the digestive system",
        "url": "https://dantelabs.com/traits/abnormal-gastrointestinal-tract-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "genes": 152,
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "intestinal-obstruction",
        "name": "Intestinal obstruction",
        "genes": 50,
        "url": "https://dantelabs.com/traits/intestinal-obstruction"
      },
      {
        "slug": "intestinal-pseudo-obstruction",
        "name": "Intestinal pseudo-obstruction",
        "genes": 36,
        "url": "https://dantelabs.com/traits/intestinal-pseudo-obstruction"
      },
      {
        "slug": "volvulus",
        "name": "Volvulus",
        "genes": 21,
        "url": "https://dantelabs.com/traits/volvulus"
      },
      {
        "slug": "intestinal-hypoplasia",
        "name": "Underdeveloped instestine",
        "genes": 12,
        "url": "https://dantelabs.com/traits/intestinal-hypoplasia"
      },
      {
        "slug": "intestinal-atresia",
        "name": "Intestinal atresia",
        "genes": 10,
        "url": "https://dantelabs.com/traits/intestinal-atresia"
      },
      {
        "slug": "intussusception",
        "name": "Intussusception",
        "genes": 10,
        "url": "https://dantelabs.com/traits/intussusception"
      },
      {
        "slug": "intestinal-bleeding",
        "name": "Intestinal bleeding",
        "genes": 6,
        "url": "https://dantelabs.com/traits/intestinal-bleeding"
      },
      {
        "slug": "intestinal-perforation",
        "name": "Intestinal perforation",
        "genes": 6,
        "url": "https://dantelabs.com/traits/intestinal-perforation"
      },
      {
        "slug": "intestinal-lymphangiectasia",
        "name": "Intestinal lymphangiectasia",
        "genes": 5,
        "url": "https://dantelabs.com/traits/intestinal-lymphangiectasia"
      },
      {
        "slug": "abnormal-large-intestine-morphology",
        "name": "Abnormality of the large intestine",
        "genes": 3,
        "url": "https://dantelabs.com/traits/abnormal-large-intestine-morphology"
      },
      {
        "slug": "intestinal-fistula",
        "name": "Intestinal fistula",
        "genes": 3,
        "url": "https://dantelabs.com/traits/intestinal-fistula"
      },
      {
        "slug": "intestinal-polyp",
        "name": "Intestinal polyp",
        "genes": 3,
        "url": "https://dantelabs.com/traits/intestinal-polyp"
      },
      {
        "slug": "abnormal-small-intestine-morphology",
        "name": "Abnormal small intestine morphology",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-small-intestine-morphology"
      },
      {
        "slug": "bowel-diverticulosis",
        "name": "Bowel diverticulosis",
        "genes": 2,
        "url": "https://dantelabs.com/traits/bowel-diverticulosis"
      },
      {
        "slug": "intestinal-edema",
        "name": "Intestinal edema",
        "genes": 2,
        "url": "https://dantelabs.com/traits/intestinal-edema"
      },
      {
        "slug": "intestinal-lymphoid-nodular-hyperplasia",
        "name": "Intestinal lymphoid nodular hyperplasia",
        "genes": 2,
        "url": "https://dantelabs.com/traits/intestinal-lymphoid-nodular-hyperplasia"
      },
      {
        "slug": "abnormal-enteric-nervous-system-morphology",
        "name": "Abnormal enteric nervous system morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-enteric-nervous-system-morphology"
      },
      {
        "slug": "enteric-anendocrinosis",
        "name": "Enteric anendocrinosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/enteric-anendocrinosis"
      },
      {
        "slug": "multiple-intestinal-neurofibromatosis",
        "name": "Multiple intestinal neurofibromatosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/multiple-intestinal-neurofibromatosis"
      },
      {
        "slug": "abnormal-intestinal-smooth-muscle-morphology",
        "name": "Abnormal intestinal smooth muscle morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-intestinal-smooth-muscle-morphology"
      }
    ],
    "genes": [
      {
        "slug": "itpr3",
        "symbol": "ITPR3",
        "hgnc": "HGNC:6182",
        "name": "inositol 1,4,5-trisphosphate receptor type 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itpr3"
      },
      {
        "slug": "spink5",
        "symbol": "SPINK5",
        "hgnc": "HGNC:15464",
        "name": "serine peptidase inhibitor Kazal type 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spink5"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "hgnc": "HGNC:554",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1b1"
      },
      {
        "slug": "ap1s1",
        "symbol": "AP1S1",
        "hgnc": "HGNC:559",
        "name": "adaptor related protein complex 1 subunit sigma 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1s1"
      },
      {
        "slug": "edn3",
        "symbol": "EDN3",
        "hgnc": "HGNC:3178",
        "name": "endothelin 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/edn3"
      },
      {
        "slug": "ednrb",
        "symbol": "EDNRB",
        "hgnc": "HGNC:3180",
        "name": "endothelin receptor type B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ednrb"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "hgnc": "HGNC:11190",
        "name": "SRY-box transcription factor 10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox10"
      },
      {
        "slug": "stat1",
        "symbol": "STAT1",
        "hgnc": "HGNC:11362",
        "name": "signal transducer and activator of transcription 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat1"
      },
      {
        "slug": "fgf20",
        "symbol": "FGF20",
        "hgnc": "HGNC:3677",
        "name": "fibroblast growth factor 20",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf20"
      },
      {
        "slug": "foxp3",
        "symbol": "FOXP3",
        "hgnc": "HGNC:6106",
        "name": "forkhead box P3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxp3"
      },
      {
        "slug": "gfra1",
        "symbol": "GFRA1",
        "hgnc": "HGNC:4243",
        "name": "GDNF family receptor alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfra1"
      },
      {
        "slug": "greb1l",
        "symbol": "GREB1L",
        "hgnc": "HGNC:31042",
        "name": "GREB1 like retinoic acid receptor coactivator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/greb1l"
      },
      {
        "slug": "itga8",
        "symbol": "ITGA8",
        "hgnc": "HGNC:6144",
        "name": "integrin subunit alpha 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itga8"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "ret",
        "symbol": "RET",
        "hgnc": "HGNC:9967",
        "name": "ret proto-oncogene",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ret"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "hgnc": "HGNC:11364",
        "name": "signal transducer and activator of transcription 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat3"
      },
      {
        "slug": "wnt9b",
        "symbol": "WNT9B",
        "hgnc": "HGNC:12779",
        "name": "Wnt family member 9B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt9b"
      },
      {
        "slug": "casz1",
        "symbol": "CASZ1",
        "hgnc": "HGNC:26002",
        "name": "castor zinc finger 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casz1"
      },
      {
        "slug": "cd3g",
        "symbol": "CD3G",
        "hgnc": "HGNC:1675",
        "name": "CD3 gamma subunit of T-cell receptor complex",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd3g"
      },
      {
        "slug": "gabrd",
        "symbol": "GABRD",
        "hgnc": "HGNC:4084",
        "name": "gamma-aminobutyric acid type A receptor subunit delta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrd"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "itch",
        "symbol": "ITCH",
        "hgnc": "HGNC:13890",
        "name": "itchy E3 ubiquitin protein ligase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itch"
      },
      {
        "slug": "kcnab2",
        "symbol": "KCNAB2",
        "hgnc": "HGNC:6229",
        "name": "potassium voltage-gated channel subfamily A regulatory beta subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnab2"
      },
      {
        "slug": "luzp1",
        "symbol": "LUZP1",
        "hgnc": "HGNC:14985",
        "name": "leucine zipper protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/luzp1"
      },
      {
        "slug": "mmp23b",
        "symbol": "MMP23B",
        "hgnc": "HGNC:7171",
        "name": "matrix metallopeptidase 23B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp23b"
      },
      {
        "slug": "mnx1",
        "symbol": "MNX1",
        "hgnc": "HGNC:4979",
        "name": "motor neuron and pancreas homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mnx1"
      },
      {
        "slug": "pdpn",
        "symbol": "PDPN",
        "hgnc": "HGNC:29602",
        "name": "podoplanin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdpn"
      },
      {
        "slug": "prdm16",
        "symbol": "PRDM16",
        "hgnc": "HGNC:14000",
        "name": "PR/SET domain 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdm16"
      },
      {
        "slug": "prkcz",
        "symbol": "PRKCZ",
        "hgnc": "HGNC:9412",
        "name": "protein kinase C zeta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkcz"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "spen",
        "symbol": "SPEN",
        "hgnc": "HGNC:17575",
        "name": "spen family transcriptional repressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spen"
      },
      {
        "slug": "ube4b",
        "symbol": "UBE4B",
        "hgnc": "HGNC:12500",
        "name": "ubiquitination factor E4B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube4b"
      },
      {
        "slug": "smarcal1",
        "symbol": "SMARCAL1",
        "hgnc": "HGNC:11102",
        "name": "SNF2 related chromatin remodeling annealing helicase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcal1"
      },
      {
        "slug": "cd55",
        "symbol": "CD55",
        "hgnc": "HGNC:2665",
        "name": "CD55 molecule (Cromer blood group)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd55"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "hgnc": "HGNC:7603",
        "name": "myosin VB",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo5b"
      }
    ]
  }
}