{
  "url": "https://dantelabs.com/traits/aplastic-anemia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "aplastic-anemia",
    "id": "HP:0001915",
    "name": "Aplastic anemia",
    "definition": "Aplastic anemia is defined as pancytopenia with a hypocellular marrow.",
    "synonyms": [
      "Aplastic anaemia"
    ],
    "systems": [
      {
        "slug": "abnormality-of-blood-and-blood-forming-tissues",
        "name": "Abnormality of blood and blood-forming tissues",
        "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues"
      }
    ],
    "broader": [
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "url": "https://dantelabs.com/traits/pancytopenia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ifng",
        "symbol": "IFNG",
        "hgnc": "HGNC:5438",
        "name": "interferon gamma",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifng"
      },
      {
        "slug": "nbn",
        "symbol": "NBN",
        "hgnc": "HGNC:7652",
        "name": "nibrin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nbn"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "prf1",
        "symbol": "PRF1",
        "hgnc": "HGNC:9360",
        "name": "perforin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prf1"
      },
      {
        "slug": "sbds",
        "symbol": "SBDS",
        "hgnc": "HGNC:19440",
        "name": "SBDS ribosome maturation factor",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sbds"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "thpo",
        "symbol": "THPO",
        "hgnc": "HGNC:11795",
        "name": "thrombopoietin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thpo"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "hgnc": "HGNC:11824",
        "name": "TERF1 interacting nuclear factor 2",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/tinf2"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "acd",
        "symbol": "ACD",
        "hgnc": "HGNC:25070",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acd"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "nhp2",
        "symbol": "NHP2",
        "hgnc": "HGNC:14377",
        "name": "NHP2 ribonucleoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhp2"
      },
      {
        "slug": "nop10",
        "symbol": "NOP10",
        "hgnc": "HGNC:14378",
        "name": "NOP10 ribonucleoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nop10"
      },
      {
        "slug": "cd27",
        "symbol": "CD27",
        "hgnc": "HGNC:11922",
        "name": "CD27 molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd27"
      },
      {
        "slug": "clpb",
        "symbol": "CLPB",
        "hgnc": "HGNC:30664",
        "name": "ClpB family mitochondrial disaggregase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clpb"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "hgnc": "HGNC:27030",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dnajc21"
      },
      {
        "slug": "efl1",
        "symbol": "EFL1",
        "hgnc": "HGNC:25789",
        "name": "elongation factor like GTPase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efl1"
      },
      {
        "slug": "elane",
        "symbol": "ELANE",
        "hgnc": "HGNC:3309",
        "name": "elastase, neutrophil expressed",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elane"
      },
      {
        "slug": "gata2",
        "symbol": "GATA2",
        "hgnc": "HGNC:4171",
        "name": "GATA binding protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata2"
      },
      {
        "slug": "gfi1",
        "symbol": "GFI1",
        "hgnc": "HGNC:4237",
        "name": "growth factor independent 1 transcriptional repressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfi1"
      },
      {
        "slug": "srp19",
        "symbol": "SRP19",
        "hgnc": "HGNC:11300",
        "name": "signal recognition particle 19",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srp19"
      },
      {
        "slug": "srp72",
        "symbol": "SRP72",
        "hgnc": "HGNC:11303",
        "name": "signal recognition particle 72",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srp72"
      },
      {
        "slug": "tcirg1",
        "symbol": "TCIRG1",
        "hgnc": "HGNC:11647",
        "name": "T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcirg1"
      },
      {
        "slug": "anapc1",
        "symbol": "ANAPC1",
        "hgnc": "HGNC:19988",
        "name": "anaphase promoting complex subunit 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anapc1"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "sh2d1a",
        "symbol": "SH2D1A",
        "hgnc": "HGNC:10820",
        "name": "SH2 domain containing 1A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh2d1a"
      },
      {
        "slug": "xiap",
        "symbol": "XIAP",
        "hgnc": "HGNC:592",
        "name": "X-linked inhibitor of apoptosis",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xiap"
      },
      {
        "slug": "hoxa11",
        "symbol": "HOXA11",
        "hgnc": "HGNC:5101",
        "name": "homeobox A11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hoxa11"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "hgnc": "HGNC:11727",
        "name": "telomerase RNA component",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/terc"
      }
    ]
  }
}