{
  "url": "https://dantelabs.com/traits/cyanosis",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "cyanosis",
    "id": "HP:0000961",
    "name": "Blue discoloration of the skin",
    "label": "Cyanosis",
    "definition": "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "dermatological-manifestations-of-systemic-disorders",
        "name": "Dermatological manifestations of systemic disorders",
        "url": "https://dantelabs.com/traits/dermatological-manifestations-of-systemic-disorders"
      }
    ],
    "narrower": [
      {
        "slug": "cyanotic-episode",
        "name": "Cyanotic episode",
        "genes": 9,
        "url": "https://dantelabs.com/traits/cyanotic-episode"
      },
      {
        "slug": "central-cyanosis",
        "name": "Central cyanosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/central-cyanosis"
      },
      {
        "slug": "peripheral-cyanosis",
        "name": "Peripheral cyanosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/peripheral-cyanosis"
      }
    ],
    "genes": [
      {
        "slug": "capns1",
        "symbol": "CAPNS1",
        "hgnc": "HGNC:1481",
        "name": "calpain small subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/capns1"
      },
      {
        "slug": "ciroz",
        "symbol": "CIROZ",
        "hgnc": "HGNC:26730",
        "name": "ciliated left-right organizer protein containing ZP-N domains",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ciroz"
      },
      {
        "slug": "cyb5r3",
        "symbol": "CYB5R3",
        "hgnc": "HGNC:2873",
        "name": "cytochrome b5 reductase 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyb5r3"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "hgnc": "HGNC:2973",
        "name": "dynamin 1L",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1l"
      },
      {
        "slug": "gcsh",
        "symbol": "GCSH",
        "hgnc": "HGNC:4208",
        "name": "glycine cleavage system protein H",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gcsh"
      },
      {
        "slug": "hbg2",
        "symbol": "HBG2",
        "hgnc": "HGNC:4832",
        "name": "hemoglobin subunit gamma 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hbg2"
      },
      {
        "slug": "jkamp",
        "symbol": "JKAMP",
        "hgnc": "HGNC:20184",
        "name": "JNK1/MAPK8 associated membrane protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jkamp"
      },
      {
        "slug": "ndufs4",
        "symbol": "NDUFS4",
        "hgnc": "HGNC:7711",
        "name": "NADH:ubiquinone oxidoreductase subunit S4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs4"
      },
      {
        "slug": "nsd1",
        "symbol": "NSD1",
        "hgnc": "HGNC:14234",
        "name": "nuclear receptor binding SET domain protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd1"
      },
      {
        "slug": "rfc4",
        "symbol": "RFC4",
        "hgnc": "HGNC:9972",
        "name": "replication factor C subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc4"
      },
      {
        "slug": "scn4a",
        "symbol": "SCN4A",
        "hgnc": "HGNC:10591",
        "name": "sodium voltage-gated channel alpha subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn4a"
      },
      {
        "slug": "sftpc",
        "symbol": "SFTPC",
        "hgnc": "HGNC:10802",
        "name": "surfactant protein C",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sftpc"
      },
      {
        "slug": "sox17",
        "symbol": "SOX17",
        "hgnc": "HGNC:18122",
        "name": "SRY-box transcription factor 17",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox17"
      },
      {
        "slug": "uggt1",
        "symbol": "UGGT1",
        "hgnc": "HGNC:15663",
        "name": "UDP-glucose glycoprotein glucosyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uggt1"
      },
      {
        "slug": "cyb5a",
        "symbol": "CYB5A",
        "hgnc": "HGNC:2570",
        "name": "cytochrome b5 type A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyb5a"
      },
      {
        "slug": "plxnd1",
        "symbol": "PLXND1",
        "hgnc": "HGNC:9107",
        "name": "plexin D1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plxnd1"
      },
      {
        "slug": "abca3",
        "symbol": "ABCA3",
        "hgnc": "HGNC:33",
        "name": "ATP binding cassette subfamily A member 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/abca3"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "eif2ak4",
        "symbol": "EIF2AK4",
        "hgnc": "HGNC:19687",
        "name": "eukaryotic translation initiation factor 2 alpha kinase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif2ak4"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "hgnc": "HGNC:7577",
        "name": "myosin heavy chain 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh7"
      },
      {
        "slug": "nup214",
        "symbol": "NUP214",
        "hgnc": "HGNC:8064",
        "name": "nucleoporin 214",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup214"
      },
      {
        "slug": "pld1",
        "symbol": "PLD1",
        "hgnc": "HGNC:9067",
        "name": "phospholipase D1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pld1"
      },
      {
        "slug": "rbm10",
        "symbol": "RBM10",
        "hgnc": "HGNC:9896",
        "name": "RNA binding motif protein 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm10"
      },
      {
        "slug": "sftpb",
        "symbol": "SFTPB",
        "hgnc": "HGNC:10801",
        "name": "surfactant protein B",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sftpb"
      },
      {
        "slug": "slc18a3",
        "symbol": "SLC18A3",
        "hgnc": "HGNC:10936",
        "name": "solute carrier family 18 member A3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc18a3"
      },
      {
        "slug": "slc25a3",
        "symbol": "SLC25A3",
        "hgnc": "HGNC:10989",
        "name": "solute carrier family 25 member 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc25a3"
      },
      {
        "slug": "slc2a1",
        "symbol": "SLC2A1",
        "hgnc": "HGNC:11005",
        "name": "solute carrier family 2 member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a1"
      },
      {
        "slug": "tmem260",
        "symbol": "TMEM260",
        "hgnc": "HGNC:20185",
        "name": "transmembrane protein 260",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem260"
      },
      {
        "slug": "fbxo22",
        "symbol": "FBXO22",
        "hgnc": "HGNC:13593",
        "name": "F-box protein 22",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo22"
      },
      {
        "slug": "grik2",
        "symbol": "GRIK2",
        "hgnc": "HGNC:4580",
        "name": "glutamate ionotropic receptor kainate type subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grik2"
      },
      {
        "slug": "gtpbp3",
        "symbol": "GTPBP3",
        "hgnc": "HGNC:14880",
        "name": "GTP binding protein 3, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp3"
      },
      {
        "slug": "hsd17b10",
        "symbol": "HSD17B10",
        "hgnc": "HGNC:4800",
        "name": "hydroxysteroid 17-beta dehydrogenase 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hsd17b10"
      },
      {
        "slug": "kcnq2",
        "symbol": "KCNQ2",
        "hgnc": "HGNC:6296",
        "name": "potassium voltage-gated channel subfamily Q member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq2"
      },
      {
        "slug": "kcnq3",
        "symbol": "KCNQ3",
        "hgnc": "HGNC:6297",
        "name": "potassium voltage-gated channel subfamily Q member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq3"
      },
      {
        "slug": "klhl7",
        "symbol": "KLHL7",
        "hgnc": "HGNC:15646",
        "name": "kelch like family member 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl7"
      },
      {
        "slug": "mt-cyb",
        "symbol": "MT-CYB",
        "hgnc": "HGNC:7427",
        "name": "mitochondrially encoded cytochrome b",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-cyb"
      },
      {
        "slug": "prrt2",
        "symbol": "PRRT2",
        "hgnc": "HGNC:30500",
        "name": "proline rich transmembrane protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prrt2"
      },
      {
        "slug": "pus3",
        "symbol": "PUS3",
        "hgnc": "HGNC:25461",
        "name": "pseudouridine synthase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pus3"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "slug": "slc25a20",
        "symbol": "SLC25A20",
        "hgnc": "HGNC:1421",
        "name": "solute carrier family 25 member 20",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a20"
      },
      {
        "slug": "slc34a2",
        "symbol": "SLC34A2",
        "hgnc": "HGNC:11020",
        "name": "solute carrier family 34 member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc34a2"
      },
      {
        "slug": "sox9",
        "symbol": "SOX9",
        "hgnc": "HGNC:11204",
        "name": "SRY-box transcription factor 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox9"
      },
      {
        "slug": "spout1",
        "symbol": "SPOUT1",
        "hgnc": "HGNC:26933",
        "name": "SPOUT domain containing methyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spout1"
      },
      {
        "slug": "tll1",
        "symbol": "TLL1",
        "hgnc": "HGNC:11843",
        "name": "tolloid like 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tll1"
      },
      {
        "slug": "txndc15",
        "symbol": "TXNDC15",
        "hgnc": "HGNC:20652",
        "name": "thioredoxin domain containing 15",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/txndc15"
      },
      {
        "slug": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "hgnc": "HGNC:143",
        "name": "actin alpha cardiac muscle 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actc1"
      },
      {
        "slug": "cited2",
        "symbol": "CITED2",
        "hgnc": "HGNC:1987",
        "name": "Cbp/p300 interacting transactivator with ED-rich tail 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cited2"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "hgnc": "HGNC:4173",
        "name": "GATA binding protein 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "hgnc": "HGNC:4174",
        "name": "GATA binding protein 6",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata6"
      },
      {
        "slug": "myh6",
        "symbol": "MYH6",
        "hgnc": "HGNC:7576",
        "name": "myosin heavy chain 6",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh6"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "hgnc": "HGNC:2488",
        "name": "NK2 homeobox 5",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkx2-5"
      },
      {
        "slug": "tbx20",
        "symbol": "TBX20",
        "hgnc": "HGNC:11598",
        "name": "T-box transcription factor 20",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx20"
      },
      {
        "slug": "acvrl1",
        "symbol": "ACVRL1",
        "hgnc": "HGNC:175",
        "name": "activin A receptor like type 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acvrl1"
      },
      {
        "slug": "eng",
        "symbol": "ENG",
        "hgnc": "HGNC:3349",
        "name": "endoglin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eng"
      },
      {
        "slug": "hba1",
        "symbol": "HBA1",
        "hgnc": "HGNC:4823",
        "name": "hemoglobin subunit alpha 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hba1"
      },
      {
        "slug": "hbb",
        "symbol": "HBB",
        "hgnc": "HGNC:4827",
        "name": "hemoglobin subunit beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hbb"
      },
      {
        "slug": "mmp21",
        "symbol": "MMP21",
        "hgnc": "HGNC:14357",
        "name": "matrix metallopeptidase 21",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp21"
      },
      {
        "slug": "pck1",
        "symbol": "PCK1",
        "hgnc": "HGNC:8724",
        "name": "phosphoenolpyruvate carboxykinase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pck1"
      },
      {
        "slug": "prkag2",
        "symbol": "PRKAG2",
        "hgnc": "HGNC:9386",
        "name": "protein kinase AMP-activated non-catalytic subunit gamma 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkag2"
      },
      {
        "slug": "zic3",
        "symbol": "ZIC3",
        "hgnc": "HGNC:12874",
        "name": "Zic family zinc finger 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic3"
      }
    ]
  }
}