{
  "url": "https://dantelabs.com/traits/abnormal-internal-genitalia",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-internal-genitalia",
    "id": "HP:0000812",
    "name": "Abnormal internal genitalia",
    "definition": "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-reproductive-system-morphology",
        "name": "Abnormal reproductive system morphology",
        "url": "https://dantelabs.com/traits/abnormal-reproductive-system-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "abnormal-morphology-of-female-internal-genitalia",
        "name": "Abnormal morphology of female internal genitalia",
        "genes": 66,
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia"
      },
      {
        "slug": "gonadal-dysgenesis",
        "name": "Gonadal dysgenesis",
        "genes": 39,
        "url": "https://dantelabs.com/traits/gonadal-dysgenesis"
      },
      {
        "slug": "gonadoblastoma",
        "name": "Gonadoblastoma",
        "genes": 17,
        "url": "https://dantelabs.com/traits/gonadoblastoma"
      },
      {
        "slug": "abnormal-male-internal-genitalia-morphology",
        "name": "Abnormal male internal genitalia morphology",
        "genes": 4,
        "url": "https://dantelabs.com/traits/abnormal-male-internal-genitalia-morphology"
      },
      {
        "slug": "agonadism",
        "name": "Agonadism",
        "genes": 2,
        "url": "https://dantelabs.com/traits/agonadism"
      },
      {
        "slug": "gonadal-calcification",
        "name": "Gonadal calcification",
        "genes": 1,
        "url": "https://dantelabs.com/traits/gonadal-calcification"
      },
      {
        "slug": "gonadal-hypoplasia",
        "name": "Underdeveloped gonad",
        "genes": 1,
        "url": "https://dantelabs.com/traits/gonadal-hypoplasia"
      }
    ],
    "genes": [
      {
        "slug": "dhx37",
        "symbol": "DHX37",
        "hgnc": "HGNC:17210",
        "name": "DEAH-box helicase 37",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dhx37"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "hgnc": "HGNC:4173",
        "name": "GATA binding protein 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata4"
      },
      {
        "slug": "map3k1",
        "symbol": "MAP3K1",
        "hgnc": "HGNC:6848",
        "name": "mitogen-activated protein kinase kinase kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k1"
      },
      {
        "slug": "nr0b1",
        "symbol": "NR0B1",
        "hgnc": "HGNC:7960",
        "name": "nuclear receptor subfamily 0 group B member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr0b1"
      },
      {
        "slug": "nr5a1",
        "symbol": "NR5A1",
        "hgnc": "HGNC:7983",
        "name": "nuclear receptor subfamily 5 group A member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr5a1"
      },
      {
        "slug": "sox9",
        "symbol": "SOX9",
        "hgnc": "HGNC:11204",
        "name": "SRY-box transcription factor 9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox9"
      },
      {
        "slug": "sry",
        "symbol": "SRY",
        "hgnc": "HGNC:11311",
        "name": "sex determining region Y",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sry"
      },
      {
        "slug": "vamp7",
        "symbol": "VAMP7",
        "hgnc": "HGNC:11486",
        "name": "vesicle associated membrane protein 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vamp7"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "hgnc": "HGNC:12796",
        "name": "WT1 transcription factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wt1"
      },
      {
        "slug": "wwox",
        "symbol": "WWOX",
        "hgnc": "HGNC:12799",
        "name": "WW domain containing oxidoreductase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wwox"
      },
      {
        "slug": "zfpm2",
        "symbol": "ZFPM2",
        "hgnc": "HGNC:16700",
        "name": "zinc finger protein, FOG family member 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zfpm2"
      },
      {
        "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"
      }
    ]
  }
}