{
  "url": "https://dantelabs.com/ro/genes/tcirg1",
  "gene": {
    "slug": "tcirg1",
    "symbol": "TCIRG1",
    "name": "T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
    "hgnc": "HGNC:11647",
    "summary": null,
    "location": "11q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "TIRC7",
      "OC-116",
      "OC116",
      "ATP6N1C",
      "Atp6i",
      "a3",
      "ATP6V0A3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000110719",
    "entrezId": 10312,
    "omim": [
      "604592"
    ],
    "uniprot": [
      "Q13488"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 68039025,
      "end": 68050895,
      "strand": "+",
      "ensemblTranscript": "ENST00000265686.8",
      "refseqTranscript": "NM_006019.4",
      "ensemblProtein": "ENSP00000265686.3",
      "refseqProtein": "NP_006010.2",
      "exons": [
        {
          "start": 68039025,
          "end": 68039119
        },
        {
          "start": 68041268,
          "end": 68041388
        },
        {
          "start": 68041753,
          "end": 68041831
        },
        {
          "start": 68042643,
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        },
        {
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          "end": 68043031
        },
        {
          "start": 68043371,
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        },
        {
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          "end": 68043653
        },
        {
          "start": 68043814,
          "end": 68043907
        },
        {
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        },
        {
          "start": 68044958,
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        },
        {
          "start": 68047433,
          "end": 68047572
        },
        {
          "start": 68047647,
          "end": 68047804
        },
        {
          "start": 68047882,
          "end": 68047972
        },
        {
          "start": 68048879,
          "end": 68048997
        },
        {
          "start": 68049081,
          "end": 68049294
        },
        {
          "start": 68049663,
          "end": 68049788
        },
        {
          "start": 68049962,
          "end": 68050066
        },
        {
          "start": 68050137,
          "end": 68050254
        },
        {
          "start": 68050487,
          "end": 68050664
        },
        {
          "start": 68050741,
          "end": 68050895
        }
      ],
      "cds": {
        "start": 68041272,
        "end": 68050819
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 67806483,
      "end": 67818362,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67544960,
      "end": 68544959,
      "genes": [
        {
          "symbol": "GSTP1",
          "ensemblId": "ENSG00000084207",
          "biotype": "protein_coding",
          "start": 67583523,
          "end": 67592110,
          "strand": "+",
          "slug": "gstp1"
        },
        {
          "symbol": "NDUFV1",
          "ensemblId": "ENSG00000167792",
          "biotype": "protein_coding",
          "start": 67605653,
          "end": 67612554,
          "strand": "+",
          "slug": "ndufv1"
        },
        {
          "symbol": "NUDT8",
          "ensemblId": "ENSG00000167799",
          "biotype": "protein_coding",
          "start": 67627937,
          "end": 67630112,
          "strand": "-",
          "slug": "nudt8"
        },
        {
          "symbol": "TBX10",
          "ensemblId": "ENSG00000167800",
          "biotype": "protein_coding",
          "start": 67631303,
          "end": 67639767,
          "strand": "-",
          "slug": "tbx10"
        },
        {
          "symbol": "ACY3",
          "ensemblId": "ENSG00000132744",
          "biotype": "protein_coding",
          "start": 67642551,
          "end": 67650900,
          "strand": "-",
          "slug": "acy3"
        },
        {
          "symbol": "ALDH3B2",
          "ensemblId": "ENSG00000132746",
          "biotype": "protein_coding",
          "start": 67662155,
          "end": 67681224,
          "strand": "-",
          "slug": "aldh3b2"
        },
        {
          "symbol": "UNC93B1",
          "ensemblId": "ENSG00000110057",
          "biotype": "protein_coding",
          "start": 67991100,
          "end": 68004982,
          "strand": "-",
          "slug": "unc93b1"
        },
        {
          "symbol": "ALDH3B1",
          "ensemblId": "ENSG00000006534",
          "biotype": "protein_coding",
          "start": 68008543,
          "end": 68029282,
          "strand": "+",
          "slug": "aldh3b1"
        },
        {
          "symbol": "NDUFS8",
          "ensemblId": "ENSG00000110717",
          "biotype": "protein_coding",
          "start": 68030617,
          "end": 68036649,
          "strand": "+",
          "slug": "ndufs8"
        },
        {
          "symbol": "CHKA",
          "ensemblId": "ENSG00000110721",
          "biotype": "protein_coding",
          "start": 68052848,
          "end": 68121449,
          "strand": "-",
          "slug": "chka"
        },
        {
          "symbol": "KMT5B",
          "ensemblId": "ENSG00000110066",
          "biotype": "protein_coding",
          "start": 68154863,
          "end": 68214134,
          "strand": "-",
          "slug": "kmt5b"
        },
        {
          "symbol": "C11orf24",
          "ensemblId": "ENSG00000171067",
          "biotype": "protein_coding",
          "start": 68261335,
          "end": 68272001,
          "strand": "-",
          "slug": "c11orf24"
        },
        {
          "symbol": "LRP5",
          "ensemblId": "ENSG00000162337",
          "biotype": "protein_coding",
          "start": 68312430,
          "end": 68449275,
          "strand": "+",
          "slug": "lrp5"
        },
        {
          "symbol": "PPP6R3",
          "ensemblId": "ENSG00000110075",
          "biotype": "protein_coding",
          "start": 68460475,
          "end": 68615343,
          "strand": "+",
          "slug": "ppp6r3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "osteopetrosis",
        "name": "Osteopetroză",
        "diseases": [
          {
            "mondoId": "MONDO:0017198",
            "name": "Osteopetroză",
            "genes": 14,
            "inheritance": null,
            "description": "Osteopetroza, cunoscută și sub denumirea de boala oaselor de marmură, este un termen descriptiv care desemnează un grup de tulburări rare, ereditare, ale scheletului, caracterizate prin densitate osoasă crescută la radiografii.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/osteopetrosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-cranial-nerve-morphology",
        "name": "Abnormal cranial nerve morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cranial-nerve-morphology"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "abnormal-pulmonary-valve-morphology",
        "name": "Abnormal pulmonary valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-valve-morphology"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "abnormal-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      },
      {
        "slug": "abnormality-of-bone-mineral-density",
        "name": "Abnormality of bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-bone-mineral-density"
      },
      {
        "slug": "abnormal-dental-morphology",
        "name": "Abnormality of dental shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-dental-morphology"
      },
      {
        "slug": "abnormality-of-hair-texture",
        "name": "Abnormality of hair texture",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-hair-texture"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-temperature-regulation",
        "name": "Abnormality of temperature regulation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-temperature-regulation"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-skin",
        "name": "Absent/small skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-skin"
      },
      {
        "slug": "acute-lymphoblastic-leukemia",
        "name": "Acute lymphoblastic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-lymphoblastic-leukemia"
      },
      {
        "slug": "acute-myeloid-leukemia",
        "name": "Acute myeloid leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-myeloid-leukemia"
      },
      {
        "slug": "antineutrophil-antibody-positivity",
        "name": "Antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/antineutrophil-antibody-positivity"
      },
      {
        "slug": "aplastic-anemia",
        "name": "Aplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplastic-anemia"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "calvarial-osteosclerosis",
        "name": "Calvarial osteosclerosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/calvarial-osteosclerosis"
      },
      {
        "slug": "chronic-infection",
        "name": "Chronic infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-infection"
      },
      {
        "slug": "chronic-rhinitis",
        "name": "Chronic rhinitis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-rhinitis"
      },
      {
        "slug": "coarse-metaphyseal-trabecularization",
        "name": "Coarse metaphyseal trabecularization",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-metaphyseal-trabecularization"
      },
      {
        "slug": "cortical-sclerosis",
        "name": "Cortical sclerosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cortical-sclerosis"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "cranial-nerve-compression",
        "name": "Cranial nerve compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cranial-nerve-compression"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "premature-loss-of-primary-teeth",
        "name": "Early loss of baby teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/premature-loss-of-primary-teeth"
      },
      {
        "slug": "spontaneous-tooth-loss",
        "name": "Early tooth loss",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spontaneous-tooth-loss"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "craniofacial-hyperostosis",
        "name": "Enlargement of craniofacial bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/craniofacial-hyperostosis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "erlenmeyer-flask-deformity-of-the-femurs",
        "name": "Erlenmeyer flask shaped thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erlenmeyer-flask-deformity-of-the-femurs"
      },
      {
        "slug": "facial-paralysis",
        "name": "Facial paralysis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-paralysis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "femur-fracture",
        "name": "Femur fracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/femur-fracture"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "flared-metaphysis",
        "name": "Flared wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flared-metaphysis"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "periodontitis",
        "name": "Gum disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periodontitis"
      },
      {
        "slug": "osteopetrosis",
        "name": "Harder, denser, fracture-prone bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopetrosis"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "increased-total-monocyte-count",
        "name": "High blood monocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-monocyte-count"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "generalized-osteosclerosis",
        "name": "Increased bone density in skeletal bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-osteosclerosis"
      },
      {
        "slug": "increased-bone-mineral-density",
        "name": "Increased bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-bone-mineral-density"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "tetany",
        "name": "Intermittent involuntary muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tetany"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "otitis-media",
        "name": "Middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/otitis-media"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "pulmonary-artery-stenosis",
        "name": "Narrowing of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis"
      },
      {
        "slug": "rhinitis",
        "name": "Nasal inflammation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rhinitis"
      },
      {
        "slug": "opsoclonus",
        "name": "Opsoclonus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/opsoclonus"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-atrophy-from-cranial-nerve-compression",
        "name": "Optic atrophy from cranial nerve compression",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-atrophy-from-cranial-nerve-compression"
      },
      {
        "slug": "optic-nerve-compression",
        "name": "Optic nerve compression",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-compression"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteosclerosis-of-the-base-of-the-skull",
        "name": "Osteosclerosis of the base of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteosclerosis-of-the-base-of-the-skull"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "pharyngitis",
        "name": "Pharyngitis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pharyngitis"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "pyoderma-gangrenosum",
        "name": "Pyoderma gangrenosum",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyoderma-gangrenosum"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-aphthous-stomatitis",
        "name": "Recurrent canker sores",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis"
      },
      {
        "slug": "recurrent-ear-infections",
        "name": "Recurrent ear infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-ear-infections"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-infection-of-the-gastrointestinal-tract",
        "name": "Recurrent infection of the gastrointestinal tract",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infection-of-the-gastrointestinal-tract"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-sinopulmonary-infections",
        "name": "Recurrent sinus and lung infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "sandwich-appearance-of-vertebral-bodies",
        "name": "Sandwich appearance of vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sandwich-appearance-of-vertebral-bodies"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "hemangioma",
        "name": "Strawberry mark",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemangioma"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypoplastic-vertebral-bodies",
        "name": "Underdeveloped back bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-vertebral-bodies"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "amer1",
        "symbol": "AMER1",
        "name": "APC membrane recruitment protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/amer1"
      },
      {
        "slug": "ca2",
        "symbol": "CA2",
        "name": "carbonic anhydrase 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ca2"
      },
      {
        "slug": "clcn7",
        "symbol": "CLCN7",
        "name": "Cl-/H+ antiporter 7",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/clcn7"
      },
      {
        "slug": "ctsk",
        "symbol": "CTSK",
        "name": "cathepsin K",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ctsk"
      },
      {
        "slug": "fermt3",
        "symbol": "FERMT3",
        "name": "FERM domain containing kindlin 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/fermt3"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "name": "LDL receptor related protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/lrp5"
      },
      {
        "slug": "lrrk1",
        "symbol": "LRRK1",
        "name": "leucine rich repeat kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/lrrk1"
      },
      {
        "slug": "ostm1",
        "symbol": "OSTM1",
        "name": "osteoclastogenesis associated transmembrane protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ostm1"
      },
      {
        "slug": "plekhm1",
        "symbol": "PLEKHM1",
        "name": "pleckstrin homology and RUN domain containing M1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/plekhm1"
      },
      {
        "slug": "rasgrp2",
        "symbol": "RASGRP2",
        "name": "RAS guanyl releasing protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/rasgrp2"
      },
      {
        "slug": "snx10",
        "symbol": "SNX10",
        "name": "sorting nexin 10",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/snx10"
      },
      {
        "slug": "tnfrsf11a",
        "symbol": "TNFRSF11A",
        "name": "TNF receptor superfamily member 11a",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tnfrsf11a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}