{
  "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "restrictive-ventilatory-defect",
    "id": "HP:0002091",
    "name": "Stiff lung or chest wall causing decreased lung volume",
    "label": "Restrictive ventilatory defect",
    "definition": "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.",
    "synonyms": [
      "Restrictive deficit on pulmonary function testing",
      "Restrictive deficit on pulmonary function tests",
      "Restrictive respiratory disease",
      "Restrictive respiratory insufficiency",
      "Restrictive respiratory syndrome",
      "Spirometric restriction"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-on-pulmonary-function-testing",
        "name": "Abnormality on pulmonary function testing",
        "url": "https://dantelabs.com/traits/abnormality-on-pulmonary-function-testing"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "borcs8",
        "symbol": "BORCS8",
        "hgnc": "HGNC:37247",
        "name": "BLOC-1 related complex subunit 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/borcs8"
      },
      {
        "slug": "copa",
        "symbol": "COPA",
        "hgnc": "HGNC:2230",
        "name": "coat protein complex I subunit alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/copa"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "hgnc": "HGNC:2928",
        "name": "dystrophin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmd"
      },
      {
        "slug": "dock11",
        "symbol": "DOCK11",
        "hgnc": "HGNC:23483",
        "name": "dedicator of cytokinesis 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dock11"
      },
      {
        "slug": "fam111b",
        "symbol": "FAM111B",
        "hgnc": "HGNC:24200",
        "name": "FAM111 trypsin like peptidase B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam111b"
      },
      {
        "slug": "farsa",
        "symbol": "FARSA",
        "hgnc": "HGNC:3592",
        "name": "phenylalanyl-tRNA synthetase subunit alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/farsa"
      },
      {
        "slug": "flvcr1",
        "symbol": "FLVCR1",
        "hgnc": "HGNC:24682",
        "name": "FLVCR choline and heme transporter 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr1"
      },
      {
        "slug": "hck",
        "symbol": "HCK",
        "hgnc": "HGNC:4840",
        "name": "HCK proto-oncogene, Src family tyrosine kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hck"
      },
      {
        "slug": "hes7",
        "symbol": "HES7",
        "hgnc": "HGNC:15977",
        "name": "hes family bHLH transcription factor 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hes7"
      },
      {
        "slug": "piezo2",
        "symbol": "PIEZO2",
        "hgnc": "HGNC:26270",
        "name": "piezo type mechanosensitive ion channel component 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piezo2"
      },
      {
        "slug": "sgcg",
        "symbol": "SGCG",
        "hgnc": "HGNC:10809",
        "name": "sarcoglycan gamma",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgcg"
      },
      {
        "slug": "snupn",
        "symbol": "SNUPN",
        "hgnc": "HGNC:14245",
        "name": "snurportin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snupn"
      },
      {
        "slug": "tor1a",
        "symbol": "TOR1A",
        "hgnc": "HGNC:3098",
        "name": "torsin family 1 member A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tor1a"
      },
      {
        "slug": "unc13a",
        "symbol": "UNC13A",
        "hgnc": "HGNC:23150",
        "name": "unc-13 homolog A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13a"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "hgnc": "HGNC:18340",
        "name": "WD repeat domain 19",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr19"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc2"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "alms1",
        "symbol": "ALMS1",
        "hgnc": "HGNC:428",
        "name": "ALMS1 centrosome and basal body associated protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alms1"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "hgnc": "HGNC:714",
        "name": "arylsulfatase B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsb"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "hgnc": "HGNC:939",
        "name": "BAG cochaperone 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bag3"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "hgnc": "HGNC:15559",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chchd10"
      },
      {
        "slug": "csf2ra",
        "symbol": "CSF2RA",
        "hgnc": "HGNC:2435",
        "name": "colony stimulating factor 2 receptor subunit alpha",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/csf2ra"
      },
      {
        "slug": "csf2rb",
        "symbol": "CSF2RB",
        "hgnc": "HGNC:2436",
        "name": "colony stimulating factor 2 receptor subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/csf2rb"
      },
      {
        "slug": "dnah11",
        "symbol": "DNAH11",
        "hgnc": "HGNC:2942",
        "name": "dynein axonemal heavy chain 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnah11"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "hgnc": "HGNC:2979",
        "name": "DNA methyltransferase 3 beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnmt3b"
      },
      {
        "slug": "dux4",
        "symbol": "DUX4",
        "hgnc": "HGNC:50800",
        "name": "double homeobox 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dux4"
      },
      {
        "slug": "dux4l1",
        "symbol": "DUX4L1",
        "hgnc": "HGNC:3082",
        "name": "double homeobox 4 like 1 (pseudogene)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dux4l1"
      },
      {
        "slug": "frg1",
        "symbol": "FRG1",
        "hgnc": "HGNC:3954",
        "name": "FSHD region gene 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/frg1"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "hgnc": "HGNC:15844",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps4"
      },
      {
        "slug": "mesp2",
        "symbol": "MESP2",
        "hgnc": "HGNC:29659",
        "name": "mesoderm posterior bHLH transcription factor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mesp2"
      },
      {
        "slug": "mt-tl1",
        "symbol": "MT-TL1",
        "hgnc": "HGNC:7490",
        "name": "mitochondrially encoded tRNA-Leu (UUA/G) 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tl1"
      },
      {
        "slug": "mt-tl2",
        "symbol": "MT-TL2",
        "hgnc": "HGNC:7491",
        "name": "mitochondrially encoded tRNA-Leu (CUN) 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tl2"
      },
      {
        "slug": "mt-tn",
        "symbol": "MT-TN",
        "hgnc": "HGNC:7493",
        "name": "mitochondrially encoded tRNA-Asn (AAU/C)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tn"
      },
      {
        "slug": "mt-ts1",
        "symbol": "MT-TS1",
        "hgnc": "HGNC:7497",
        "name": "mitochondrially encoded tRNA-Ser (UCN) 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-ts1"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "hgnc": "HGNC:7577",
        "name": "myosin heavy chain 7",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/myh7"
      },
      {
        "slug": "myo1h",
        "symbol": "MYO1H",
        "hgnc": "HGNC:13879",
        "name": "myosin IH",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo1h"
      },
      {
        "slug": "nkx2-1",
        "symbol": "NKX2-1",
        "hgnc": "HGNC:11825",
        "name": "NK2 homeobox 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkx2-1"
      },
      {
        "slug": "poglut1",
        "symbol": "POGLUT1",
        "hgnc": "HGNC:22954",
        "name": "protein O-glucosyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/poglut1"
      },
      {
        "slug": "pus1",
        "symbol": "PUS1",
        "hgnc": "HGNC:15508",
        "name": "pseudouridine synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pus1"
      },
      {
        "slug": "rfc4",
        "symbol": "RFC4",
        "hgnc": "HGNC:9972",
        "name": "replication factor C subunit 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc4"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "hgnc": "HGNC:15999",
        "name": "selenoprotein N",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/selenon"
      },
      {
        "slug": "sftpa1",
        "symbol": "SFTPA1",
        "hgnc": "HGNC:10798",
        "name": "surfactant protein A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sftpa1"
      },
      {
        "slug": "slc34a2",
        "symbol": "SLC34A2",
        "hgnc": "HGNC:11020",
        "name": "solute carrier family 34 member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc34a2"
      },
      {
        "slug": "smchd1",
        "symbol": "SMCHD1",
        "hgnc": "HGNC:29090",
        "name": "structural maintenance of chromosomes flexible hinge domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smchd1"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "ttn",
        "symbol": "TTN",
        "hgnc": "HGNC:12403",
        "name": "titin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ttn"
      },
      {
        "slug": "abcd3",
        "symbol": "ABCD3",
        "hgnc": "HGNC:67",
        "name": "ATP binding cassette subfamily D member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcd3"
      },
      {
        "slug": "adamtsl2",
        "symbol": "ADAMTSL2",
        "hgnc": "HGNC:14631",
        "name": "ADAMTS like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamtsl2"
      },
      {
        "slug": "b3galt6",
        "symbol": "B3GALT6",
        "hgnc": "HGNC:17978",
        "name": "beta-1,3-galactosyltransferase 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galt6"
      },
      {
        "slug": "bicd2",
        "symbol": "BICD2",
        "hgnc": "HGNC:17208",
        "name": "BICD cargo adaptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bicd2"
      },
      {
        "slug": "cfap410",
        "symbol": "CFAP410",
        "hgnc": "HGNC:1260",
        "name": "cilia and flagella associated protein 410",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap410"
      },
      {
        "slug": "ctla4",
        "symbol": "CTLA4",
        "hgnc": "HGNC:2505",
        "name": "cytotoxic T-lymphocyte associated protein 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctla4"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "dnase1l3",
        "symbol": "DNASE1L3",
        "hgnc": "HGNC:2959",
        "name": "deoxyribonuclease 1L3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnase1l3"
      },
      {
        "slug": "eng",
        "symbol": "ENG",
        "hgnc": "HGNC:3349",
        "name": "endoglin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eng"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "gdap1",
        "symbol": "GDAP1",
        "hgnc": "HGNC:15968",
        "name": "ganglioside induced differentiation associated protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdap1"
      },
      {
        "slug": "gipc1",
        "symbol": "GIPC1",
        "hgnc": "HGNC:1226",
        "name": "GIPC PDZ domain containing family member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gipc1"
      },
      {
        "slug": "hla-b",
        "symbol": "HLA-B",
        "hgnc": "HGNC:4932",
        "name": "major histocompatibility complex, class I, B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-b"
      },
      {
        "slug": "hla-dpa1",
        "symbol": "HLA-DPA1",
        "hgnc": "HGNC:4938",
        "name": "major histocompatibility complex, class II, DP alpha 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dpa1"
      },
      {
        "slug": "hla-dpb1",
        "symbol": "HLA-DPB1",
        "hgnc": "HGNC:4940",
        "name": "major histocompatibility complex, class II, DP beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dpb1"
      },
      {
        "slug": "ikzf1",
        "symbol": "IKZF1",
        "hgnc": "HGNC:13176",
        "name": "IKAROS family zinc finger 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ikzf1"
      },
      {
        "slug": "lrp12",
        "symbol": "LRP12",
        "hgnc": "HGNC:31708",
        "name": "LDL receptor related protein 12",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp12"
      },
      {
        "slug": "ltbp3",
        "symbol": "LTBP3",
        "hgnc": "HGNC:6716",
        "name": "latent transforming growth factor beta binding protein 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp3"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "slug": "naa10",
        "symbol": "NAA10",
        "hgnc": "HGNC:18704",
        "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naa10"
      },
      {
        "slug": "nlrp3",
        "symbol": "NLRP3",
        "hgnc": "HGNC:16400",
        "name": "NLR family pyrin domain containing 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nlrp3"
      },
      {
        "slug": "notch2nlc",
        "symbol": "NOTCH2NLC",
        "hgnc": "HGNC:53924",
        "name": "notch 2 N-terminal like C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2nlc"
      },
      {
        "slug": "nutm2b-as1",
        "symbol": "NUTM2B-AS1",
        "hgnc": "HGNC:51204",
        "name": "NUTM2B antisense RNA 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nutm2b-as1"
      },
      {
        "slug": "prtn3",
        "symbol": "PRTN3",
        "hgnc": "HGNC:9495",
        "name": "proteinase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prtn3"
      },
      {
        "slug": "ptpn22",
        "symbol": "PTPN22",
        "hgnc": "HGNC:9652",
        "name": "protein tyrosine phosphatase non-receptor type 22",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn22"
      },
      {
        "slug": "pyroxd1",
        "symbol": "PYROXD1",
        "hgnc": "HGNC:26162",
        "name": "pyridine nucleotide-disulphide oxidoreductase domain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pyroxd1"
      },
      {
        "slug": "rilpl1",
        "symbol": "RILPL1",
        "hgnc": "HGNC:26814",
        "name": "Rab interacting lysosomal protein like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rilpl1"
      },
      {
        "slug": "rnf168",
        "symbol": "RNF168",
        "hgnc": "HGNC:26661",
        "name": "ring finger protein 168",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf168"
      },
      {
        "slug": "rpa1",
        "symbol": "RPA1",
        "hgnc": "HGNC:10289",
        "name": "replication protein A1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpa1"
      },
      {
        "slug": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtl1"
      },
      {
        "slug": "trappc11",
        "symbol": "TRAPPC11",
        "hgnc": "HGNC:25751",
        "name": "trafficking protein particle complex subunit 11",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trappc11"
      },
      {
        "slug": "plod1",
        "symbol": "PLOD1",
        "hgnc": "HGNC:9081",
        "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plod1"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "hgnc": "HGNC:124",
        "name": "acid phosphatase 5, tartrate resistant",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acp5"
      },
      {
        "slug": "btnl2",
        "symbol": "BTNL2",
        "hgnc": "HGNC:1142",
        "name": "butyrophilin like 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/btnl2"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "ddr2",
        "symbol": "DDR2",
        "hgnc": "HGNC:2731",
        "name": "discoidin domain receptor tyrosine kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddr2"
      },
      {
        "slug": "dkc1",
        "symbol": "DKC1",
        "hgnc": "HGNC:2890",
        "name": "dyskerin pseudouridine synthase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dkc1"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "galns",
        "symbol": "GALNS",
        "hgnc": "HGNC:4122",
        "name": "galactosamine (N-acetyl)-6-sulfatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/galns"
      },
      {
        "slug": "glb1",
        "symbol": "GLB1",
        "hgnc": "HGNC:4298",
        "name": "galactosidase beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glb1"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "hgnc": "HGNC:5163",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hps1"
      },
      {
        "slug": "megf10",
        "symbol": "MEGF10",
        "hgnc": "HGNC:29634",
        "name": "multiple EGF like domains 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/megf10"
      },
      {
        "slug": "slc12a6",
        "symbol": "SLC12A6",
        "hgnc": "HGNC:10914",
        "name": "solute carrier family 12 member 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc12a6"
      },
      {
        "slug": "stac3",
        "symbol": "STAC3",
        "hgnc": "HGNC:28423",
        "name": "SH3 and cysteine rich domain 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stac3"
      }
    ]
  }
}